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1.
J Assist Reprod Genet ; 41(5): 1233-1243, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38536595

RESUMO

AIM: Abnormalities in oocyte maturation, fertilization, and early embryonic development are major causes of primary infertility in women who are undergoing IVF/ICSI attempts. Although many genetic factors responsible for these abnormal phenotypes have been identified, there are more additional pathogenic genes and variants yet to be discovered. Previous studies confirmed that bi-allelic PATL2 deficiency is an important factor for female infertility. In this study, 935 infertile patients with IVF/ICSI failure were selected for whole-exome sequencing, and 18 probands carrying PATL2 variants with a recessive inheritance pattern were identified. METHODS: We estimated that the prevalence contributed by PATL2 was 1.93% (18/935) in our study cohort. RESULTS: 15 novel variants were found in those families, including c.1093C > T, c.1609dupA, c.1204C > T, c.643dupG, c.877-2A > G, c.1228C > G, c.925G > A, c.958G > A, c.4A > G, c.1258T > C, c.1337G > A, c.1264dupA, c.88G > T, c.1065-2A > G, and c.1271T > C. The amino acids altered by the corresponding variants were highly conserved in mammals, and in silico analysis and 3D molecular modeling suggested that the PATL2 mutants impaired the physiologic function of the resulting proteins. Diverse clinical phenotypes, including oocyte maturation defect, fertilization failure, and early embryonic arrest might result from different variants of PATL2. CONCLUSIONS: These results expand the spectrum of PATL2 variants and provide an important reference for genetic counseling for female infertility, and they increase our understanding of the mechanisms of oocyte maturation arrest caused by PATL2 deficiency.


Assuntos
Sequenciamento do Exoma , Fertilização in vitro , Infertilidade Feminina , Mutação , Proteínas Nucleares , Fenótipo , Proteínas de Ligação a RNA , Injeções de Esperma Intracitoplásmicas , Adulto , Feminino , Humanos , Gravidez , Infertilidade Feminina/genética , Infertilidade Feminina/patologia , Mutação/genética , Oócitos/crescimento & desenvolvimento , Oócitos/patologia , Linhagem , Proteínas Nucleares/genética , Proteínas de Ligação a RNA/genética
2.
Biol Reprod ; 109(6): 839-850, 2023 12 11.
Artigo em Inglês | MEDLINE | ID: mdl-37602666

RESUMO

Creatine metabolism likely contributes to energy homeostasis in the human uterus, but whether this organ synthesizes creatine and whether creatine metabolism is adjusted throughout the menstrual cycle and with pregnancy are largely unknown. This study determined endometrial protein expression of creatine-synthesizing enzymes arginine:glycine amidinotransferase (AGAT) and guanidinoacetate methyltransferase (GAMT), creatine kinase (CKBB), and the creatine transporter (SLC6A8) throughout the menstrual cycle in fertile and primary infertile women. It also characterized creatine metabolism at term pregnancy, measuring aspects of creatine metabolism in myometrial and decidual tissue. In endometrial samples, AGAT, GAMT, SLC6A8, and CKBB were expressed in glandular and luminal epithelial cells. Except for SLC6A8, the other proteins were also located in stromal cells. Irrespective of fertility, AGAT, GAMT, and SLC6A8 high-intensity immunohistochemical staining was greatest in the early secretory phase of the menstrual cycle. During the proliferative phase, staining for SLC6A8 protein was greater (P = 0.01) in the primary infertile compared with the fertile group. Both layers of the term pregnant uterus contained creatine, phosphocreatine, guanidinoacetic acid, arginine, glycine, and methionine; detectable gene and protein expression of AGAT, GAMT, CKBB, and ubiquitous mitochondrial CK (uMt-CK); and gene expression of SLC6A8. The proteins AGAT, GAMT, CKBB, and SLC6A8 were uniformly distributed in the myometrium and localized to the decidual glands. In conclusion, endometrial tissue has the capacity to produce creatine and its capacity is highest around the time of fertilization and implantation. Both layers of the term pregnant uterus also contained all the enzymatic machinery and substrates of creatine metabolism.


Assuntos
Creatina , Infertilidade Feminina , Gravidez , Feminino , Humanos , Creatina/genética , Creatina/metabolismo , Útero/metabolismo , Ciclo Menstrual , Arginina
3.
Mol Biol Rep ; 50(8): 6729-6737, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37382776

RESUMO

BACKGROUND: Unexplained infertility could arise from a defect in the cervix. However, the contribution of abnormal cervical fluid microenvironment to this problem still needs to be identified. Therefore, this study identifies the changes in the cervical fluid microenvironment, i.e., pH, electrolytes and osmolarity as well as expression of ion transporters in the cervix including ENaC, CFTR and AQP in fertile women and in women suffering from primary unexplained infertility. METHODS: Fertile women and women with unexplained infertility but having regular 28-day menstrual cycles were chosen in this study, Day-22 serum progesterone levels were determined. In the meantime, serum FSH and LH levels were determined on day 2 while, cervical flushing was performed at day 14 to analyse changes in the cervical fluid pH, osmolarity, Na+ and Cl- levels. Meanwhile, cells retrieved from cervical fluid were subjected to mRNA expression and protein distribution analysis for CFTR, AQP and ENaC by qPCR and immunofluorescence, respectively. RESULTS: No significant changes in serum progesterone, FSH and LH levels were observed between the two groups. However, cervical fluid pH, osmolarity, Na+ and Cl- levels were significantly lower in primary unexplained infertile group when compared to fertile group. Expression of CFTR and AQP (AQP 1, AQP 2, AQP 5 and AQP 7) in endocervical cells was lower and expression of ß-ENaC was higher in primary unexplained infertile women (p < 0.05 when compared to fertile group). CONCLUSIONS: Alterations in the cervical fluid microenvironment linked to the defective ion transporter expression in the cervix might contribute towards the unfavourable condition that accounts for unexplained infertility in women.


Assuntos
Colo do Útero , Infertilidade Feminina , Humanos , Feminino , Infertilidade Feminina/genética , Infertilidade Feminina/metabolismo , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Progesterona , Eletrólitos/metabolismo , Sódio/metabolismo , Hormônio Foliculoestimulante/metabolismo , Concentração de Íons de Hidrogênio
4.
Int J Hyperthermia ; 40(1): 2264547, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37903541

RESUMO

OBJECTIVE: To evaluate the therapeutic effect of high-intensity focused ultrasound (HIFU) treatment for adenomyotic patients with primary infertility and to explore the factors that affect the pregnancy outcomes. MATERIALS AND METHODS: Twenty-seven adenomyotic patients with primary infertility who underwent HIFU at HUNAN Provincial Maternal and Child Health Care Hospital, China, between July 2018 and December 2022 were retrospectively reviewed. We evaluated the pregnancy outcomes and analyzed the factors that may affect pregnancy outcomes including time to conception, pregnancy approach, gestational age, delivery mode, neonatal outcomes, and complications during pregnancy and delivery. RESULTS: Among the 27 adenomyotic patients with primary infertility, 10 patients had a total of 11 pregnancies after HIFU treatment. Of these, eight (72%) cases were natural pregnancies and three (23%) were in vitro fertilization (IVF) pregnancies. The median time to conception was 10 (range 4-25) months. There were eight (72%) successful deliveries. The rate of full-term deliveries was 90%. Of the eight live births, four (50%) were born vaginally and four (50%) by cesarean section. No severe complications occurred. The mean birth weight of newborns was 3.1 (range: 2.3-3.9) kg; all newborns developed well without complications during postpartum and breastfeeding. CONCLUSIONS: HIFU treatment for adenomyosis could improve fertility of patients with primary infertility. HIFU is a promising therapeutic approach for patients with adenomyosis and infertility who wish to achieve pregnancy and have live birth deliveries.


Assuntos
Adenomiose , Ablação por Ultrassom Focalizado de Alta Intensidade , Infertilidade , Recém-Nascido , Criança , Humanos , Gravidez , Feminino , Resultado da Gravidez , Adenomiose/complicações , Cesárea , Estudos Retrospectivos , Resultado do Tratamento , Infertilidade/terapia
5.
Arch Gynecol Obstet ; 307(2): 609-617, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36217037

RESUMO

OBJECTIVE: Septate uterus is the most common structural uterine anomaly, which is related to the adverse pregnancy outcomes in women of childbearing age. This article provides a retrospective review of hysteroscopic uterine septum resection performed in our hospital during recent years, focusing on the patients with recurrent miscarriage and primary infertility, and also to identify which patients are more likely to benefit from the surgery. METHODS: This is a single-center retrospective study. Cases of women who underwent hysteroscopic septum resection at West China Second Hospital of Sichuan University from January 2014 to December 2019, retrieved through the medical record system, were divided into three groups: Group A was the recurrent miscarriage group, Group B had a history of pregnancy with spontaneous abortion once at most, and Group C was the primary infertility group. Each patient was followed up by telephone about further pregnancy, miscarriage and live birth for at least 1 year. RESULTS: A total of 176 surgical patients were included in this study. Group A, B, and C include 42, 74, and 60 cases, respectively. The postoperative pregnancy rates of the three groups were 71.4, 82.4, and 75.0%; live births rates were 50.0, 74.3, and 71.7%; and spontaneous abortion rates were 21.4, 17.6, and 13.3%. 62 patients had a complete uterine septum and 114 had a partial uterine septum. For patients with complete septate uterus, the preoperative pregnancy rate was 54.84% and the pregnancy rate increased to 85.48% after surgery; and yet the preoperative and postoperative pregnancy rates in patients with partial septate uterus were close (from 71.9 to 72.8%). CONCLUSIONS: After uterine septum resection, the pregnancy rate and spontaneous abortion rate in RSA patients were not significantly different from the other two groups, but the live birth rate was still significantly lower. Patients with complete uterine septum may benefit more from surgery. The surgical indications should be carefully and strictly evaluated.


Assuntos
Aborto Habitual , Infertilidade Feminina , Útero Septado , Gravidez , Humanos , Feminino , Estudos Retrospectivos , População do Leste Asiático , Histeroscopia , Infertilidade Feminina/etiologia , Infertilidade Feminina/cirurgia , Útero/cirurgia , Útero/anormalidades , Aborto Habitual/epidemiologia , Aborto Habitual/cirurgia
6.
Medicina (Kaunas) ; 59(10)2023 Oct 10.
Artigo em Inglês | MEDLINE | ID: mdl-37893521

RESUMO

Background: Osseous tissue in the endometrium is a rare find, and it is most often discovered when the patient presents with infertility. It is frequently associated with dysmenorrhea and abnormal menstrual bleedings. Although its etiology remains unclear, in almost all described cases until now, the patient has an obstetrical history. Case report: In this report, we present a unique case of endometrial osseous metaplasia in a 27-year-old primary infertile patient. The transvaginal ultrasound revealed a 18/13/7 mm hyperechoic endometrial mass with posterior acoustic shadowing and no flow on color Doppler. A hysteroscopic examination found a polygonal calcification on the endometrial posterior face of the uterine cavity, in the corporeal isthmic region, which was extracted. The histopathological evaluation revealed microscopic elements compatible with endometrial calcification. The patient had a good postoperative course and the complex endocrinologic, immunologic and electrolytical investigation failed to prove any abnormality. Follow-up transvaginal ultrasound examinations revealed no modifications. Three years later, the patient conceived spontaneously, had an uneventful pregnancy and delivered a full-term fetus. Conclusion: We assumed that this entity can be a serious cause of infertility since the patient had a long history of (primary) infertility and its resection made the pregnancy's occurrence possible. Finally, since neither history of abortion or chronic inflammation nor any abnormal laboratory test were noticed, we concluded that the etiology of this entity remained unclear.


Assuntos
Calcinose , Infertilidade Feminina , Ossificação Heterotópica , Gravidez , Feminino , Humanos , Adulto , Infertilidade Feminina/etiologia , Histeroscopia/efeitos adversos , Ossificação Heterotópica/complicações , Ossificação Heterotópica/diagnóstico por imagem , Endométrio/patologia , Calcinose/complicações , Metaplasia/complicações , Metaplasia/patologia
7.
Reprod Health ; 19(1): 13, 2022 Jan 18.
Artigo em Inglês | MEDLINE | ID: mdl-35042514

RESUMO

BACKGROUND: There is growing interest in long-term outcomes following infertility and infertility treatment. However, there are few detailed longitudinal cohorts available for this work. This study aimed to assemble a historical cohort of women with primary infertility and age-matched controls to evaluate fertility trends, sequelae, and sociodemographic differences. Described here are cohort group characteristics and associated reproductive trends over time. METHODS: A population-based historical cohort was created using the Rochester Epidemiology Project (REP) record-linkage system (Olmsted County, MN). The cohort included women aged 18-50 with a diagnosis of primary infertility between January 1, 1980, and December 31, 1999. As part of a case-control study, we identified 1:1 age-matched female controls from the same community and era. RESULTS: A total of 1001 women with primary infertility and 1001 age-matched controls were identified. The women with primary infertility were significantly more likely to be married, college educated, use barrier contraception, and non-smokers compared to age-matched controls. The incidence of primary infertility increased from 14 to 20 per 10,000 person years from 1980-1985 to 1995-1999. Ovulatory dysfunction and unexplained infertility were the most common causes of primary infertility and clomiphene was the most widely used fertility medication. Rates of in vitro fertilization (IVF) increased from 1.8% during 1980-1985 to 26.0% during 1995-1999. CONCLUSION: Women with primary infertility were found to have unique sociodemographic characteristics compared to age-matched control women, which is consistent with previous research. The incidence of diagnosed primary infertility increased from 1980 to 1999, as did use of IVF.


This study aimed to assemble a historic cohort of women with primary infertility and age-matched control women. The cohort included 1001 women with primary infertility diagnosed between 1980 and 1999 and 1001 age-matched controls from the same community and era. This cohort demonstrated baseline differences between the primary infertility and control groups, including differences in marital status, education, use of barrier contraception and smoking status. Additionally, the cohort showed an increased incidence in diagnosis of primary infertility from 1980 to 1999. Creation of this cohort will enable future research focused on long-term outcomes following primary infertility diagnosis and treatment.


Assuntos
Infertilidade Feminina , Estudos de Casos e Controles , Estudos de Coortes , Feminino , Fertilidade , Fertilização in vitro , Humanos , Infertilidade Feminina/epidemiologia
8.
J Biosoc Sci ; 54(4): 682-697, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-34140048

RESUMO

This study assessed the rate of primary infertility and its associated factors among 402,807 currently married women aged 20-49 years in India using National Family Health Survey-4 data collected in 2015-2016. Dietary patterns and selected morbidities were included as independent variables, and socioeconomic variables were considered as covariates. Bivariate and multivariate analyses were done to estimate the prevalence of primary infertility and assess its association with the selected variables, respectively. The rate of primary infertility among currently married women in India in 2015-16 was 1.9% and this was significantly associated with younger age (<35 years), higher age at marriage (≥18 years), urban residence, higher secondary or above education and poverty. The consumption of dairy products (OR = 0.79, CI = 0.73-0.86), dark green leafy vegetables (OR = 0.57, CI = 0.39-0.81) and fruit (OR = 0.88, CI = 0.77-1.01) significantly reduced the odds of primary infertility. Daily consumption of fish and aerated drinks was related to 1.06-1.21 times higher odds of primary infertility. Overweight/obesity, high blood pressure and high blood glucose levels were associated with 1.08-1.21 times elevated odds of primary infertility. Thyroid disorder (OR = 1.38, CI = 1.21-1.60), heart disease (OR = 1.17, CI = 1.16-1.19) and severe anaemia (OR = 1.24, CI = 1.00-1.53) were associated with an increased likelihood of primary infertility among women (OR 1.17-1.39, CI 1.00-1.60). The findings provide compelling evidence that primary infertility among women is related to dietary patterns and morbidities. Interventions and programmes targeting the promotion of healthy diets and lifestyles could be beneficial in addressing the issue of primary infertility among women.


Assuntos
Infertilidade , Sobrepeso , Feminino , Humanos , Índia/epidemiologia , Obesidade/epidemiologia , Sobrepeso/epidemiologia , Prevalência
9.
BMC Psychiatry ; 21(1): 278, 2021 05 31.
Artigo em Inglês | MEDLINE | ID: mdl-34059016

RESUMO

BACKGROUND: Given the prevalence of infertility and consequences of stress, anxiety, and depression during pregnancy and after childbirth, this study aimed to determine the effect of group cognitive behavioral therapy (CBT)-based counseling on perceived stress (primary outcome), anxiety, depression, and quality of life (QoL) of pregnant women with a history of primary infertility. METHOD: This controlled randomized clinical trial was conducted on 56 pregnant women with a history of primary infertility referred to Infertility Clinic of Al-Zahra Teaching Hospital of Tabriz. The participants were divided into the intervention (n = 28) and control (n = 28) groups using block randomization. The intervention group received group CBT-based counseling after the 14th week of the pregnancy: six in-person sessions and two telephone sessions once per week. The control group received routine care. The Perceived Stress Scale (PSS), Edinburgh Postnatal Depression Scale (EPDS), Van den Bergh's Pregnancy-Related Anxiety Questionnaire (PRAQ), and Quality of Life in Pregnancy (Gravidarum) (QOL-GRAV) were completed through interviews before and 4 weeks after the intervention by the researcher. RESULTS: There was not any between-group difference in socio-demographic characteristics, except the gestational age and husband educational level (p > 0.05). Both of these variables were adjusted in ANCOVA. After the intervention, the mean scores of perceived stress (mean difference: - 7.3; confidence interval: 95%, from - 0.9 to - 5.6; p < 0.001) and anxiety (mean difference:-14.7; confidence interval: 95%. from - 20.6 to - 8.8; p < 0.001) were significantly lower in the intervention group. The mean depression score in the intervention group was lower than the control; however, this between-group difference was not significant (mean difference: - 1.95; confidence interval: 95% from - 3.9 to 0.2; p = 0.052). The mean score of quality of life in pregnancy was significantly higher in the intervention group than the control (mean difference: - 5.4; confidence interval: 95% from 3.4 to 7.4; p < 0.001). CONCLUSION: CBT counseling can affect the perceived stress, anxiety, and quality of life of pregnant women with a history of primary infertility. As a result, this counseling approach is recommended along with other counseling approaches to improve the mental health of pregnant women with a history of infertility. TRIAL REGISTRATION: IRCT Registration Number: IRCT20111219008459N12 , registered on 10/11/ 2018.


Assuntos
Terapia Cognitivo-Comportamental , Infertilidade , Aconselhamento , Feminino , Humanos , Gravidez , Gestantes , Qualidade de Vida , Estresse Psicológico/terapia
10.
Qatar Med J ; 2021(3): 47, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34650907

RESUMO

BACKGROUND/AIM: Infertility is defined as the inability of heterosexual couples to achieve a successful clinically recognizable pregnancy after 12 months or more of regular, unprotected sexual intercourse. Infertility estimations are very important to inform the healthcare policymakers and governments to implement appropriate social and economic policies. Thus, this study aimed to estimate the pooled prevalence of infertility (primary and secondary) and its etiologic factors in Sudan. METHODS: This study included all published and unpublished studies written in Arabic or English. Electronic sources (namely, PubMed, MEDLINE, Embase, Cochrane Central Register of Controlled Trials, and ClinicalTrials.gov) and nonelectronic sources (direct Google search, Google Scholar, OpenGrey, OATD, WorldCat log, and university websites) were used from their inception to May 16, 2021. A total of 1955 studies were reviewed, of which only 20 studies were eligible for the meta-analysis. Studies were eligible if they provided the prevalence of infertility in Sudan. The Joanna Briggs Institute Quality Assessment Tool was used to evaluate each study. Data synthesis and statistical analysis were conducted using Jeffrey's Amazing Statistics Program version 0.14.1.0. RESULTS: The pooled prevalence of overall infertility, primary infertility, and secondary infertility in Sudan were 13% (I2 = 96.45, p < 0.001), 65% (I2 = 98.5, p < 0.001), and 35% (I2 = 98.5, p < 0.001), respectively, and the prevalence of infertility factors were 41%, 27%, 16%, and 17% for female, male, combined factors, and unexplained factors, respectively. Women with infertility were mainly present because of ovulatory disorders (ovulatory factors, 36%; polycystic ovary syndrome, 38%). By contrast, spermatic disorders such as azoospermia (37%), oligozoospermia (30%), and asthenozoospermia (30%) were the main causes of male infertility. CONCLUSION: In Sudan, the prevalence of primary infertility is higher than that of secondary infertility. Female factors were the most common causes of infertility in Sudan, and this study found a high prevalence of unexplained factors. Polycystic ovary syndrome and azoospermia were the most common causes of female and male infertility in Sudan, respectively. The interpretation of these findings should take into consideration the presence of substantial heterogeneity between the included studies.

11.
Hum Genet ; 139(5): 605-613, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32172300

RESUMO

Infertility affects 10% of reproductive-age women and is extremely heterogeneous in etiology. The genetic contribution to female infertility is incompletely understood, and involves chromosomal and single-gene defects. Our aim in this study is to decipher single-gene causes in infertile women in whom endocrinological, anatomical, and chromosomal causes have been excluded. Our cohort comprises women with recurrent pregnancy loss and no offspring from spontaneous pregnancies (RPL, n = 61) and those who never achieved clinical pregnancy and were referred for in vitro fertilization [primary infertility (PI), n = 14]. Whole-exome sequencing revealed candidate variants in 14, which represents 43% of those with PI and 13% of those with RPL. These include variants in previously established female infertility-related genes (TLE6, NLRP7, FSHR, and ZP1) as well as genes with only tentative links in the literature (NLRP5). Candidate variants in genes linked to primary ciliary dyskinesia (DNAH11 and CCNO) were identified in individuals with and without systemic features of the disease. We also identified variants in genes not previously linked to female infertility. These include one homozygous variant each in CCDC68, CBX3, CENPH, PABPC1L, PIF1, PLK1, and REXO4, which we propose as candidate genes for infertility based on their established biology or compatible animal models. Our study expands the contribution of single genes to the etiology of PI and RPL, improves the precision of disease classification at the molecular level, and offers the potential for future treatment and development of human genetics-inspired fertility regulators.


Assuntos
Aborto Habitual/genética , Marcadores Genéticos , Genômica/métodos , Infertilidade Feminina/genética , Mutação , Aborto Habitual/patologia , Adulto , Feminino , Humanos , Infertilidade Feminina/patologia , Gravidez , Recidiva , Sequenciamento do Exoma
12.
BMC Pregnancy Childbirth ; 20(1): 460, 2020 Aug 12.
Artigo em Inglês | MEDLINE | ID: mdl-32787803

RESUMO

BACKGROUND: Early rescue intracytoplasmic sperm injection (ICSI) has been used in clinic as appropriate currently. While the outcomes of children born after this method were not well assessed. The purpose of this study was to evaluate the effect of early rescue ICSI on women with primary infertility. METHODS: Fresh embryo transfer cycles after rescue (n = 214) and conventional (n = 546) ICSI were retrospectively evaluated from women with primary infertility who underwent their first assisted reproductive technology cycles at our center in 2012-2017. The conventional ICSI group was subdivided into ICSI-1 (semen suitable for in vitro fertilization, IVF) and ICSI-2 (poor semen quality) to minimize bias from differences in semen quality. Pregnancy, delivery and neonatal outcomes were compared between groups. RESULTS: There was a higher rate of polyspermy and a lower rate of top-quality embryos (TQE) on day 3 for oocytes subject to rescue ICSI compared with conventional ICSI. This reduced the total number of TQE and the number of TQE transferred in the rescue ICSI group. There was no significant difference between groups in clinical pregnancy, ongoing pregnancy, early miscarriage and live birth. For pregnant women, gestational age, route of delivery, risk of preterm birth and gestational diabetes mellitus were also comparable. Neonatal outcomes including sex ratio, birth weight, neonatal intensive care unit admission and birth defects were also similar after rescue and conventional ICSI. Moreover, no differences were observed with the different ICSI subgroups. CONCLUSIONS: For women with primary infertility who have a high risk of IVF fertilization failure (FF), rescue ICSI provides a safe and efficient alternative to minimize FF after initial IVF, but results in fewer TQE on day 3.


Assuntos
Infertilidade Feminina , Injeções de Esperma Intracitoplásmicas , Adulto , Transferência Embrionária , Feminino , Humanos , Gravidez , Resultado da Gravidez , Estudos Retrospectivos
13.
Gynecol Endocrinol ; 35(12): 1037-1039, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31274036

RESUMO

Perrault syndrome is a rare autosomal recessive disorder that affects both males and females. The syndrome causes deafness in males, however females display gonadal dysgenesis along with sensorineural hearing loss. Herein, we present a 27-year-old female patient who is deaf and mute along with primary amenorrhea. Hormonal assays revealed hypergonadotropic hypogonadism and the karyotype was 46 XX. Pelvic ultrasound described a hypoplastic uterus and streak ovaries. MRI of the spine showed degenerative discs and Tarlov cysts. Whole exome sequencing identified a LARS2 mutation and the patient was diagnosed with Perrault syndrome type four (PRLTS4).


Assuntos
Disgenesia Gonadal 46 XX/diagnóstico , Perda Auditiva Neurossensorial/diagnóstico , Adulto , Amenorreia/genética , Aminoacil-tRNA Sintetases/genética , Surdez/genética , Feminino , Disgenesia Gonadal 46 XX/genética , Disgenesia Gonadal 46 XX/fisiopatologia , Perda Auditiva Neurossensorial/genética , Perda Auditiva Neurossensorial/fisiopatologia , Humanos , Hipogonadismo/genética , Infertilidade Feminina/genética , Degeneração do Disco Intervertebral/diagnóstico por imagem , Degeneração do Disco Intervertebral/genética , Imageamento por Ressonância Magnética , Cistos de Tarlov/diagnóstico por imagem , Cistos de Tarlov/genética , Ultrassonografia , Útero/diagnóstico por imagem
14.
J Clin Nurs ; 28(7-8): 1289-1299, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30550625

RESUMO

AIM AND OBJECTIVES: To develop and initially validate the Positive Sexuality Scale (PSS) to assess adult female-positive sexuality. BACKGROUND: While traditional approaches focus on negative sexual experiences and sexual dysfunctions, within the positive psychology framework positive sexuality is a subjective experience of happiness and fulfilment with one's sexual expression, which contributes to well-being. No measure exists that specifically measures adult female-positive sexuality and can be confidently used with women of any fertility/childlessness status. DESIGN: Two-stage cross-sectional study with a 4-week test-retest, which follows the STROBE guidelines. METHODS: Participants were 912 Italian women aged 18-45 (52.74% mothers, 23.79% voluntarily childless and 23.46% primary infertile), who completed the 5-item PSS and a self-report of psychological well-being. A subsample (n = 61) completed the 4-week test-retest. RESULTS: Factor analyses supported a one-factor model with measurement invariance across adulthood stage and fertility/childlessness status and good reliability. Younger and fertile women showed higher PSS scores, and moderate-to-high variability in infertile women's well-being was accounted for by PSS scores. CONCLUSION: The PSS is a brief self-report with initial evidence of validity and reliability that could be used in sex research, practice and education. RELEVANCE TO CLINICAL PRACTICE: The PSS could assist health professionals to identify a positive resource to which women can draw on to deal with sex-related issues. Implementing the assessment of female-positive sexuality in infertility protocols could help professionals to identify a potential resource within couples facing infertility and its treatment.


Assuntos
Infertilidade Feminina/psicologia , Sexualidade/psicologia , Adolescente , Adulto , Estudos Transversais , Análise Fatorial , Feminino , Humanos , Itália , Pessoa de Meia-Idade , Satisfação Pessoal , Reprodutibilidade dos Testes , Autorrelato , Adulto Jovem
15.
J Reprod Infant Psychol ; 35(4): 353-364, 2017 09.
Artigo em Inglês | MEDLINE | ID: mdl-29517374

RESUMO

OBJECTIVE: The study intended to see the impact of infertility on experience of emotional trauma, belief pattern and formation of psychopathology and also to explore the psychopathology with respect to degree of infertility related stress impact among male, female and unexplained factor infertility in couples suffering from primary infertility. DESIGN: This was a clinic-based, cross-sectional comparative study based on a consecutive sampling method. SUBJECTS: Sixty couples were studied of whom 10 couples had male-related infertility (MF), 10 had female-related infertility (FF) and 10 unexplained infertility (UF). Another 30 fertile couples were also included as comparative group (CG) after matching on certain sociodemographic variables with the clinical groups. MEASURES: Impact of Event Scale, Symptom Checklist-90 Revised and Irrational Belief Scale were used. RESULTS: The impact of emotional trauma and irrational belief was greatest in the male-related infertility couples, and somatisation in the unexplained group, whereas depression and interpersonal sensitivity were higher in the female-related infertility couples. An impact of moderate to severe infertility-related stress on depression and irrational beliefs was also observed. Gender difference was evident with respect to psychopathology and types of infertility. CONCLUSION: The impact of infertility is evident with respect to psychopathology with differential impact of various types of infertility groups among Indian couples.


Assuntos
Ansiedade/psicologia , Depressão/psicologia , Emoções , Infertilidade Feminina/psicologia , Infertilidade Masculina/psicologia , Autoimagem , Escalas de Graduação Psiquiátrica Breve , Estudos Transversais , Feminino , Humanos , Índia , Infertilidade Feminina/fisiopatologia , Infertilidade Masculina/fisiopatologia , Masculino , Fatores Sexuais , População Urbana
16.
Cell Tissue Res ; 364(1): 199-207, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26846113

RESUMO

Numerous investigations have focused on the detection of antisperm antibodies, which have a naturally occurring impact on male and female fertility. In this study, spermatogenic glyceraldehyde-3-phosphate dehydrogenase (GAPDHS) was considered to be a candidate biomarker of immune infertility. The concentrations of anti-GAPDHS antibodies in the sera of sterile individuals and fertile couples were measured by enzyme-linked immunosorbent assay. Sera were collected from immune infertile (n = 175) and fertile (n = 237) individuals and were screened by tray agglutination tests (TAT). Infertile sera were further divided into two groups according to the serum titers obtained by TAT (titers ≤ 1:8, n = 58; titers > 1:8, n = 117). The concentrations of anti-GAPDHS antibodies were significantly higher in the immune infertile group than in the fertile group and were much higher with regard to the increased degrees of sperm agglutination (titers > 1:8). Surprisingly, we found statistically significantly higher concentrations of antibodies in the sera of infertile men than in those of infertile women, and a similar statistical result was obtained in the sera when primary infertility was compared with secondary infertility. Thus, anti-GAPDHS antibodies seem to be a sensitive parameter in immune infertile detection and might be one of the main factors causing immune infertility. This factor might be valuable as an indicator in the clinical diagnosis and monitoring treatment of infertility.


Assuntos
Autoanticorpos , Gliceraldeído-3-Fosfato Desidrogenases/imunologia , Infertilidade Feminina , Infertilidade Masculina , Adulto , Autoanticorpos/sangue , Autoanticorpos/imunologia , Biomarcadores/sangue , Feminino , Humanos , Infertilidade Feminina/sangue , Infertilidade Feminina/imunologia , Infertilidade Masculina/sangue , Infertilidade Masculina/imunologia , Masculino , Pessoa de Meia-Idade
17.
Eur J Obstet Gynecol Reprod Biol ; 299: 208-212, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38889572

RESUMO

OBJECTIVE: This study aims to investigate the correlation between endometriosis (EMS) and adverse obstetric outcomes. METHODS: In this retrospective study 2,925 cesarean section cases were analyzed at the Women and Children's Hospital of Ningbo University, Department of Obstetrics, between May 2019 and December 2023. The study included 1,363 women diagnosed with endometriosis during pregnancy at the time of surgery (study group) and 1,562 women without such a diagnosis (control group). The comparative assessment covered the age of first-time mothers, number of pregnancies and births, gestational age at delivery, incidence rates of assisted reproductive technology (ART), spontaneous abortion, preterm birth, placenta previa, placental adhesion, and postpartum hemorrhage. RESULTS: The study group demonstrated a higher average age of first-time mothers, fewer pregnancies and births, and a significantly shorter gestational age at delivery (P < 0.05) compared to the control group. Incidences of primary infertility, spontaneous abortion, and ART utilization were higher in the study group. The occurrence of placenta previa, placental adhesion, and postpartum hemorrhage was also higher in the study group, indicating significant statistical differences (P < 0.05). No significant difference was observed in preterm birth rates between the groups (P > 0.05). CONCLUSION: Pregnancy in women with endometriosis is associated with a higher likelihood of adverse outcomes, therefore highlighting the need for increased clinical awareness.


Assuntos
Endometriose , Complicações na Gravidez , Resultado da Gravidez , Humanos , Feminino , Gravidez , Endometriose/epidemiologia , Endometriose/complicações , Adulto , Estudos Retrospectivos , Resultado da Gravidez/epidemiologia , Complicações na Gravidez/epidemiologia , Técnicas de Reprodução Assistida/estatística & dados numéricos , Cesárea/estatística & dados numéricos , Cesárea/efeitos adversos , Aborto Espontâneo/epidemiologia , Aborto Espontâneo/etiologia , China/epidemiologia
18.
Pan Afr Med J ; 48: 62, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39355712

RESUMO

Introduction: infertility is a significant public health concern in Africa and Hysterosalpingography (HSG) is an affordable option for initial treatment. This study aimed to provide information about the incidence of abnormal pathology and tubal findings in HSG of Sudanese women who experienced infertility. Methods: this prospective cross-sectional study included 100 infertile patients who were requested for HSG, including age, duration of infertility, body mass index (BMI), medical history, and HSG findings collected after performing the radiographic test, which was diagnosed by an experienced radiologist. Results: one hundred infertile women (46% and 54%) experienced primary and secondary infertility, respectively. Mean age was (31.1 ± 5.2, 27.5 ± 6.0) years, and BMI was (25.1 ± 3.3, 25.7 ± 2.9) Kg/cm2 for primary and secondary infertility respectively. Abnormal findings prevalence was (29/46, 63%) and (30/54, 56%). The incidence of fallopian tube abnormality was (52/100, 52% (25/46, 54.3%), and (27/56, 50%) for primary and secondary infertility, respectively. Forty-one percent of participants had normal hysterosalpingograms. Pelvic surgery was the highest risk factor in 24% of the participants. Age and medical history were significantly associated with the infertility type (P < 0.05). Conclusion: infertile patients who underwent hysterosalpingography (HSG) were predominantly older, with secondary infertility being slightly more common, underscoring the importance of early diagnostic evaluation and care. Fallopian tube abnormalities were the most common cause of infertility, with tube blockage affecting nearly half of the participants. Additionally, this study revealed that prior pelvic surgery significantly increased the risk of infertility.


Assuntos
Doenças das Tubas Uterinas , Histerossalpingografia , Infertilidade Feminina , Humanos , Feminino , Estudos Transversais , Histerossalpingografia/métodos , Infertilidade Feminina/epidemiologia , Infertilidade Feminina/etiologia , Sudão/epidemiologia , Adulto , Estudos Prospectivos , Doenças das Tubas Uterinas/diagnóstico por imagem , Doenças das Tubas Uterinas/epidemiologia , Adulto Jovem , Fatores de Risco , Incidência , Prevalência , Tubas Uterinas/diagnóstico por imagem , Tubas Uterinas/patologia , Índice de Massa Corporal
19.
Cureus ; 16(3): e56468, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38638734

RESUMO

Endometriosis and infertility are clinically associated. The therapeutic approaches for endometriosis, whether medical or surgical, yield distinct outcomes for a woman's potential for achieving conception, whether through natural means or with the aid of assisted reproductive technology (ART). In this case report, a 29-year-old female and her 32-year-old partner, married for the last five years, sought assistance at our fertility clinic after having one failed in vitro fertilization (IVF) cycle. The patient had a history of dysmenorrhea and deep dyspareunia, suggesting the presence of an ovarian cyst. Transabdominal ultrasound and laparoscopy confirmed the existence of ovaries with adhesions and a chocolate cyst measuring 8 cm × 6 cm in dimensions. Cystectomy of ovarian endometriomas enhances the rate of spontaneous conception and reduces pain. Moreover, it has the potential to enhance the outcome of IVF. The successful outcome achieved through ART, specifically the intracytoplasmic sperm injection cycle, underscores the importance of technological advancements in overcoming infertile barriers. This case report exemplifies the personalized and innovative approaches available to couples undergoing fertility treatment.

20.
Front Endocrinol (Lausanne) ; 15: 1396793, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38808116

RESUMO

Objective: To examine the impact of tobacco smoking on seminal parameters in men with both primary and secondary infertility. Methods: This cross-sectional study analyzed 1938 infertile men from China who were categorized as nonsmokers (n=1,067) and smokers (n=871), with the latter group further divided into moderate smokers (1-10 cigarettes per day) (n=568) and heavy smokers (>10 cigarettes per day) (n=303). We assessed semen volume, concentration, total sperm count, progressive motility, and normal morphology following World Health Organization (WHO 2010) guidelines. A logistic regression model was used to analyze the relationships between smoking and seminal parameters while also controlling for lifestyle factors. Results: The analysis demonstrated a statistically significant correlation between smoking and adverse seminal parameters in both primary and secondary infertility patients. Specifically, primary infertile men who smoked had a lower semen concentration, with heavy smokers showing a median sperm concentration of 59.2×10^6/ml compared to 68.6×10^6/ml in nonsmokers (P=0.01). The secondary infertile men who smoked exhibited reduced forward sperm motility, with heavy smokers demonstrating a median progressive motility of 44.7%, which was significantly lower than the 48.1% observed in nonsmokers (P=0.04). Conclusion: Smoking is significantly associated with detrimental effects on seminal parameters in infertile men, thus highlighting the need for cessation programs as part of fertility treatment protocols. Encouraging smoking cessation could substantially improve semen quality and fertility outcomes in this population.


Assuntos
Infertilidade Masculina , Análise do Sêmen , Sêmen , Contagem de Espermatozoides , Motilidade dos Espermatozoides , Humanos , Masculino , Estudos Transversais , Infertilidade Masculina/etiologia , Infertilidade Masculina/epidemiologia , Adulto , China/epidemiologia , Fumar/efeitos adversos
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