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1.
Int Braz J Urol ; 50(5): 631-650, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39059016

RESUMO

PURPOSE: The continuous improvement and development of fertility care, internationally, requires ongoing monitoring of current delivery processes and outcomes in clinical practice. This descriptive and exploratory mixed-methods study was conducted in eight countries (Brazil, China, France, Germany, Italy, Mexico, Spain and the United Kingdom) to assess the unmet needs of fertility patients (male and female), and existing challenges, barriers and educational gaps of physicians and laboratory specialists involved in human fertility care during the COVID-19 pandemic. MATERIALS AND METHODS: The study was deployed sequentially in two phases: 1) in-depth 45-minute semi-structured interviews (n=76), transcribed, coded and thematically analysed using an inductive reasoning approach, 2) an online survey (n=303) informed by the findings of the qualitative interviews, face validated by experts in reproductive medicine, and analysed using descriptive and inferential statistical methods. RESULTS: The integrated results of both phases indicated numerous areas of challenges, including: 1) investigating male-related infertility; 2) deciding appropriate treatment for men and selective use of assisted reproductive technology; and 3) maintaining access to high-quality fertility care during a pandemic. CONCLUSIONS: The paper presents a reflective piece on knowledge and skills that warrant ongoing monitoring and improvement amongst reproductive medicine healthcare professionals amidst future pandemics and unanticipated health system disruptions. Moreover, these findings suggest that there is an additional need to better understand the required changes in policies and organizational processes that would facilitate access to andrology services for male infertility and specialized care, as needed.


Assuntos
COVID-19 , Pandemias , Humanos , COVID-19/epidemiologia , Masculino , Feminino , Técnicas de Reprodução Assistida , Avaliação das Necessidades , SARS-CoV-2 , Infertilidade/terapia , Necessidades e Demandas de Serviços de Saúde , Infertilidade Masculina/terapia
2.
Prev Vet Med ; 228: 106227, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38772120

RESUMO

Leptospirosis, caused by pathogenic spirochetes of the genus Leptospira spp., is a globally significant zoonotic disease that affects humans and animals. In cattle, leptospirosis is associated not only with overt clinical manifestations but also with reproductive diseases, including infertility. This study assesses the potential correlation between leptospirosis and infertility in Uruguayan beef cattle. A case-control study involved 31 beef herds with no prior history of Leptospira vaccination. In each herd, veterinarians identified 10 non-pregnant (cases) and 25 pregnant cows (controls) using ultrasound, and blood and urine samples were collected from each cow. Serological diagnosis was performed using the Microscopic Agglutination Test (MAT), and quantitative PCR (qPCR) was used to assess Leptospira excretion. Additionally, antibodies against bovine viral diarrhea virus (BVDV) and infectious bovine rhinotracheitis (IBR) were tested. The results demonstrated an association between seropositivity to the Sejroe serogroup (cut-off 1:200) and infertility in cattle (OR=1.31; p-value=0.06). Furthermore, the level of Leptospira excretion (qPCR) in urine was associated with increased infertility risk, with cows excreting over 100 copies per mL of urine having the highest odds of infertility (OR=2.34; p-value<0.01). This study suggests a potential association between leptospirosis and infertility in Uruguayan beef cattle, emphasizing the importance of both serological and molecular diagnostics for assessing reproductive health in cattle herds. Future research should explore the impact of Leptospira serogroups on other reproductive disorders in cattle.


Assuntos
Doenças dos Bovinos , Leptospira , Leptospirose , Animais , Leptospirose/veterinária , Leptospirose/epidemiologia , Bovinos , Doenças dos Bovinos/microbiologia , Doenças dos Bovinos/epidemiologia , Doenças dos Bovinos/virologia , Feminino , Estudos de Casos e Controles , Uruguai/epidemiologia , Leptospira/isolamento & purificação , Gravidez , Infertilidade/veterinária , Infertilidade/etiologia
5.
Int J Mol Sci ; 25(6)2024 Mar 09.
Artigo em Inglês | MEDLINE | ID: mdl-38542123

RESUMO

Cryptorchidism (CO) or undescended testes is defined as the failure of one or both testes to be positioned inside the scrotum. Typically, cryptorchidism is detected at birth or shortly thereafter, and in humans, it is considered to be part of the testicular dysgenesis syndrome (TDS), a complex pathology regarding the male reproductive system that apparently involves the interaction of both genetic and environmental harmful factors, mainly during embryonic development. Serotonin (5-HT) is an ancient molecule that participates in a broad range of body functions, and in recent years, its importance in reproduction has started to be elucidated. In male pathologies such as infertility, varicocele, erectile dysfunction, and primary carcinoid tumors, an increase in 5-HT concentration or its metabolites in the blood, semen, and urine has been directly related; nevertheless, the role of 5-HT in CO remains unknown. In the present work, our goal was to answer two important questions: (1) whether some serotonergic system components are present in adult male Oryctolagus cuniculus (chinchilla rabbit) and (2) if there are changes in their expression in an experimental model of CO. Using histological, molecular, and biochemical approaches, we found the presence of some serotonergic system components in the adult chinchilla rabbit, and we demonstrated that its expression is downregulated after CO was pharmacologically induced. Although we did not test the role of 5-HT in the etiology of CO, our results suggest that this indoleamine could be important for the regulation of steroidogenesis and spermatogenesis processes in the chinchilla rabbit during adulthood. Finally, in parallel experimental series, we found downregulation of kynurenine concentration in COI rabbits when compared to control ones, suggesting that CO could be affecting the kynurenine pathway and probably testicular immune privilege which in turn could lead to infertility/sterility conditions in this disorder.


Assuntos
Criptorquidismo , Infertilidade , Lagomorpha , Humanos , Adulto , Coelhos , Masculino , Animais , Regulação para Baixo , Cinurenina , Serotonina , Testículo/patologia , Infertilidade/patologia
6.
Rev Assoc Med Bras (1992) ; 70(2): e20230922, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38451578

RESUMO

OBJECTIVE: The aim of this study was to determine the effect of anxiety and depression on pregnancy outcome in couples receiving in vitro fertilization treatment. METHODS: A total of 102 couples (102 females and 102 males) with unexplained infertility were included in the study. Personal Information Form was used to collect data, Case Follow-up Form to record the treatment process, and Spielberger's State-Trait Anxiety Inventory and Beck Depression Inventory to measure the anxiety and depression levels of couples. Couples were measured twice: before treatment and on oocyte pickup day. RESULTS: There was no statistically significant difference between the anxiety and depression levels and oocyte count of women (p>0.05). There were statistically significant differences between State-Trait Anxiety Inventory level and sperm count and between BID level and sperm motility (p<0.05). There was no statistically significant difference between the anxiety and depression levels and pregnancy outcomes of women (p>0.05). CONCLUSION: Anxiety and depression had no effect on pregnancy outcome. More studies are needed to investigate the effect of anxiety and depression on pregnancy outcome in unexplained infertility.


Assuntos
Infertilidade , Resultado da Gravidez , Gravidez , Masculino , Feminino , Humanos , Depressão , Sêmen , Motilidade dos Espermatozoides , Ansiedade
7.
JBRA Assist Reprod ; 28(1): 59-65, 2024 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-38289200

RESUMO

OBJECTIVE: Patients face challenges accessing fertility treatment due to barriers such as financial burdens, delayed referral to Reproductive Endocrinologists (REI), low medical literacy, language barriers and numerous other health disparities. Medicaid in New York offers coverage for office visits, blood tests, hysterosalpingograms (HSGs), and pelvic ultrasounds for infertility. The aim of this study is to delineate the characteristics of this underserved population and determine their ability to complete the initial fertility workup. METHODS: This was a retrospective study of all patients seeking fertility care at a single resident/fellow REI clinic in New York from September 2020 - January 2022. RESULTS: During the study period, 87 patients (avg age = 35.2y) sought care at the resident/fellow clinic over 126 appointments. The majority of patients had Medicaid insurance and most primary languages spoken included English (70.1%), Spanish (21.8%), and Bengali (3.4%). Documented Race was comprised of mostly Other (46%), African American (21.8%), Asian (17.2%), and White (11.5%). The majority of patients completed a lab workup (70-80%). Fewer patients underwent a scheduled HSG (59.8%) and patients' partners completed a semen analysis (SA) (27.6%). Overall, there was a significant difference in the ability to complete the initial infertility workup (lab tests vs. HSG vs. SA) across all groups regardless of age, insurance type, primary language spoken, race and ethnicity (p<0.05). CONCLUSIONS: Completing the fertility workup, particularly the male partner workup and imaging studies, can present challenges for underserved patients with infertility. Understanding which patient characteristics and societal factors restrict access to fertility care requires further investigation to improve access to fertility care in underserved communities.


Assuntos
Preservação da Fertilidade , Infertilidade , Estados Unidos , Humanos , Masculino , Adulto , Estudos Retrospectivos , Medicaid , Infertilidade/epidemiologia , Infertilidade/terapia , Fertilidade
9.
Proc Biol Sci ; 291(2014): 20232363, 2024 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-38196360

RESUMO

The size-complexity rule posits that the evolution of larger cooperative groups should favour more division of labour. Examples include more cell types in larger multicellular organisms, and more polymorphic castes in larger eusocial colonies. However, a correlation between division of labour and group size may reflect a shared response of both traits to resource availability and/or profitability. Here, this possibility was addressed by investigating the evolution of sterile caste number (worker and soldier morphotypes) in termites, a major clade of eusocial insects in which the drivers of caste polymorphism are poorly understood. A novel dataset on 90 termite species was compiled from the published literature. The analysis showed that sterile caste number did increase markedly with colony size. However, after controlling for resource adaptations and phylogeny, there was no evidence for this relationship. Rather, sterile caste number increased with increasing nest-food separation and decreased with soil-feeding, through changes in worker (but not soldier) morphotype number. Further, colony size increased with nest-food separation, thus driving the false correlation between sterile caste number and colony size. These findings support adaptation to higher energy acquisition as key to the rise of complex insect societies, with larger size being a by-product.


Assuntos
Infertilidade , Isópteros , Animais , Alimentos , Fenótipo , Filogenia
10.
Spinal Cord Ser Cases ; 10(1): 2, 2024 Jan 20.
Artigo em Inglês | MEDLINE | ID: mdl-38245514

RESUMO

Traumatic spinal cord injury (SCI) is a major cause of severe and permanent disability in young adults. Overweight and obesity are commonly observed among patients affected with SCI, with reports of a prevalence of over 60 and 30% respectively. Case report: A 34 year-old woman suffering from tetraplegia after sustaining a traumatic injury to C5-C6 at age 23 as a result of a motor vehicle accident was presented to our hospital's multidisciplinary bariatric team due to class II obesity. At the time of presentation to the team, eleven years after the accident, her BMI was calculated to be 39 Kg/m2 (weight 97 kg, height 1.57 meters). She was diagnosed with infertility while seeking pregnancy, and referred to our bariatric unit for weight loss. In addition, she had overcome the physical limitations of her injury, had a regular job and was engaged in regular physical activities such as swimming. In May 2017, she underwent laparoscopic sleeve gastrectomy (LSG) without complications and was discharged on postoperative day 2. 17 months following LSG, with a normal BMI, she became naturally pregnant. She had emergency cesarean at 35 weeks due to pneumonia but both patient and child recovered without sequelae. Currently, 4 years after surgery she maintains 37.11% total weight loss (weight 61 kg). She reports having a better quality of life with fewer medical intercurrencies. Conclusions: Patients with SCI and obesity, particularly women seeking to conceive, may be benefited by being referred to bariatric teams for assessment and treatment to improve results associated with sustained weight reduction.


Assuntos
Gastrectomia , Infertilidade , Adulto , Feminino , Humanos , Gastrectomia/métodos , Infertilidade/cirurgia , Laparoscopia/métodos , Obesidade/complicações , Obesidade/cirurgia , Quadriplegia/complicações , Quadriplegia/cirurgia , Qualidade de Vida , Redução de Peso
11.
Reprod Sci ; 31(3): 697-703, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37814199

RESUMO

Our main objective was to identify the male and female parameters associated with total fertilization failure (TFF) in IVF with nonmasculine indications. The present work, IRB equivalent INS 63209, is a case-control study that evaluated all cases with TFF after conventional IVF at the Center for Human Reproduction from January 2010 to December 2019 (n = 154). As a control group, we analyzed all patients who did not experience fertilization failure after conventional IVF in the same period (n = 475). We evaluated various parameters, both male and female, assessed during infertility treatment, and only cases without masculine etiology (normal seminal parameters) were included. Ages (female and male) were not different between the groups. Moreover, AMH (anti-Müllerian hormone), semen volume, preprocessing concentration and preprocessing motility were not significantly different (P > 0.05). However, the number of collected oocytes (study versus control groups, median [25-75 interquartile]: 2 [1-5] and 5 [3-8]); MII (2 [1-4] and 5 [2-7]); and postprocessing motility (85 [70-90] and 90 [80-95]) were significantly different between both groups (P < 0.05). Furthermore, a logistic regression analysis including all significant data demonstrated that the number of collected oocytes was significantly related to IVF failure. Patients with fewer than 5 oocytes had an OR of - 1.37 (- 0.938 to - 1.827) for TFF after conventional IVF. Our results showed that a lower follicular response to controlled ovarian stimulation, evidenced by a decreased number of collected oocytes, was the most important parameter associated with IVF failure in nonmasculine infertility.


Assuntos
Fertilização in vitro , Infertilidade , Humanos , Masculino , Feminino , Gravidez , Injeções de Esperma Intracitoplásmicas , Estudos de Casos e Controles , Infertilidade/terapia , Oócitos , Hormônio Antimülleriano , Fertilização/fisiologia , Taxa de Gravidez
12.
JBRA Assist Reprod ; 28(1): 9-12, 2024 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-37962946

RESUMO

OBJECTIVE: Postponing assisted reproductive technology treatment can cause pronounced mental health problems. The aim of this study was to examine the level of depression, anxiety, stress, and overall infertility-related distress experienced by infertile couples during the pandemic, as well as the differences between men and women in the examined variables and the correlations between them. METHODS: A total of 131 participants were included in the study, 65 men and 66 women. They were selected based on their responses in the Fertility Problems Inventory (FPI); the Depression, Anxiety, and Stress Scale-21 (DASS-21); and a general data questionnaire provided to them at the time of IVF. RESULTS: The levels of depression, anxiety, and stress in women and men resided within the normal range. Depression (p<0.05), anxiety (p<0.01), stress (p<0.01), and social concern (p<0.05) were more pronounced among women. Significant correlations were found between depression, anxiety, stress, and global stress and its three dimensions: social concern, sexual concern, and relationship concern. CONCLUSIONS: During the pandemic, women undergoing assisted reproductive technology treatment experienced significantly higher levels of depression, anxiety, stress, and overall infertility-related stress than men. Furthermore, depression, anxiety, and stress were apparently correlated with overall infertility-related stress.


Assuntos
COVID-19 , Infertilidade , Masculino , Humanos , Feminino , Pandemias , Depressão/epidemiologia , Depressão/psicologia , COVID-19/epidemiologia , Estresse Psicológico/epidemiologia , Estresse Psicológico/psicologia , Infertilidade/epidemiologia , Ansiedade/epidemiologia , Ansiedade/etiologia , Ansiedade/psicologia
13.
G3 (Bethesda) ; 14(3)2024 03 06.
Artigo em Inglês | MEDLINE | ID: mdl-38156703

RESUMO

Odysseus (OdsH) was the first speciation gene described in Drosophila related to hybrid sterility in offspring of mating between Drosophila mauritiana and Drosophila simulans. Its origin is attributed to the duplication of the gene unc-4 in the subgenus Sophophora. By using a much larger sample of Drosophilidae species, we showed that contrary to what has been previously proposed, OdsH origin occurred 62 MYA. Evolutionary rates, expression, and transcription factor-binding sites of OdsH evidence that it may have rapidly experienced neofunctionalization in male sexual functions. Furthermore, the analysis of the OdsH peptide allowed the identification of mutations of D. mauritiana that could result in incompatibility in hybrids. In order to find if OdsH could be related to hybrid sterility, beyond Sophophora, we explored the expression of OdsH in Drosophila arizonae and Drosophila mojavensis, a pair of sister species with incomplete reproductive isolation. Our data indicated that OdsH expression is not atypical in their male-sterile hybrids. In conclusion, we have proposed that the origin of OdsH occurred earlier than previously proposed, followed by neofunctionalization. Our results also suggested that its role as a speciation gene might be restricted to D. mauritiana and D. simulans.


Assuntos
Proteínas de Drosophila , Infertilidade , Animais , Masculino , Evolução Biológica , Drosophila/genética , Proteínas de Drosophila/genética , Hibridização Genética
14.
Braz. j. biol ; 84: e256923, 2024. tab, ilus
Artigo em Inglês | LILACS, VETINDEX | ID: biblio-1360219

RESUMO

Naturally occurring mutations in morphogenetic protein 15 (BMP15) are associated with decreased ovulation rate (OR), litter size (LS), and sterility. It is of a great interest to elucidate BMP15 gene in Cholistani sheep breed to uplift socio-economic status and the knowledge of Cholistani sheep breeding in Southern Punjab, Pakistan. In our study, a total of 50 infertile Cholistani sheep aged between 2-6 years and having no blood relation were screened for BMP15 mutations. For this purpose, a high-quality DNA was extracted from the blood of sheep followed by primer designing, Polymerase Chain Reaction (PCR) amplification, DNA sequencing, and in silico analyses. Out of total 50 samples, 9 samples including case 1 (T3), case 2 (T8), case 3 (T17), case 4 (T22), case 5 (T25), case 6 (T33), case 7 (T40), case 8 (T44), and case 9 (T47) were found positive for a variety of already reported and novel BMP15 mutations. Further in silico analyses of the observed mutations have shown the functional impact of these mutations on different characteristics (molecular weight, theoretical PI, estimated half-life, instability index, sub-cellular localization, and 3D confirmation) of the encoded proteins, possibly altering the normal functionality. In a nutshell, findings of this study have confirmed the possible essential role of the BMP15 mutations in the infertility of the Cholistani sheep.


Mutações de ocorrência natural na proteína morfogenética 15 (BMP15) estão associadas à diminuição da taxa de ovulação (TO), tamanho da ninhada (TN) e esterilidade. Estudar a BMP15 na raça Cholistani para elevar o status socioeconômico e o conhecimento da criação de ovinos Cholistani no sul de Punjab, Paquistão. Em nosso estudo, 50 ovelhas Cholistani inférteis sem parentesco sanguíneo foram rastreadas para mutações BMP15. Para tanto, um DNA de alta qualidade foi extraído do sangue dessas ovelhas, seguido de concepção do primer, amplificação da reação em cadeia da polimerase (PCR), sequenciamento de DNA e análises in silico. Do total de 50 amostras, 9, incluindo caso 1 (T3), caso 2 (T8), caso 3 (T17), caso 4 (T22), caso 5 (T25), caso 6 (T33), caso 7 (T40), caso 8 (T44) e caso 9 (T47), foram consideradas positivas para uma variedade de mutações BMP15 novas e já relatadas. Mais análises in silico das mutações observadas mostraram o impacto funcional dessas mutações em diferentes características (peso molecular, PI teórico, meia-vida estimada, índice de instabilidade, localização subcelular e confirmação 3D) das proteínas codificadas, possivelmente alterando a funcionalidade normal. Nossos achados confirmaram o possível papel essencial das mutações BMP15 na infertilidade de ovelhas Cholistani.


Assuntos
Animais , Ovinos , Infertilidade , Mutação/genética
15.
Braz J Biol ; 83: e275534, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38055579

RESUMO

Environmental pollutants and lifestyle severely threaten human and animal health, leading to disturbances of various functions, including infertility. So, exploring a safe treatment that could effectively reverse infertility remains a challenge. The current study was intended to explore the fertility-enhancing effect of Juglans Regia oil in two successive generations of rats; F0 and F1. J. Regia oil was initially tested for in vitro antioxidant assay via ROS and DPPH, followed by in vivo toxicity testing. In the fertility assessment, eighteen pairs of male and female rats (n=36, 1:1, F0 generation) were divided into three groups and dosed with 1 mL/kg and 2 mL/kg daily of J. Regia oil and saline, respectively, up to pre-cohabitation, cohabitation, gestation and lactation periods. The reproductive performance, including body weight, live birth index, fertility index, and litter size, was assessed. Hormonal and antioxidant markers of F1 generations were assessed with the histopathological evaluation of male and female organs. The oil of J. Regia showed great antioxidant potential (P < 0.05) in DPPH (1,1-diphenyl-2-picrylhydrazyl) and ROS (Reactive Oxygen Species) methods (P<0.05). The continued exposure of the F0 and F1 generations to J. Regia oil did not affect body weight, fertility index, litter size, and survival index. We have found pronounced fertility outcomes in both genders of F0 and F1 generations with J. Regia 2 mL/kg/day in comparison to the control. Results showed that J. Regia significantly increased (P < 0.05) luteinizing hormone (LH), plasma testosterone, follicular stimulating hormone (FSH), glutathione peroxidase (GPx) and superoxide dismutase (SOD) activities in both generations. Histology of both generations reveals improved spermatogenesis and folliculogenesis with enhanced architecture. Altogether, the present results suggest that J. Regia improved fertility in both male and female rats by improving hormonal activities and oxidative stress.


Assuntos
Infertilidade , Juglans , Humanos , Ratos , Feminino , Masculino , Animais , Antioxidantes/farmacologia , Espécies Reativas de Oxigênio/farmacologia , Reprodução , Peso Corporal
16.
Reprod Health ; 20(1): 183, 2023 Dec 08.
Artigo em Inglês | MEDLINE | ID: mdl-38062511

RESUMO

BACKGROUND: The World Health Organization characterizes infertility as a disease since 2009; however, in many countries, reproductive health is not prioritized. Characterizing a target population and knowing the barriers to accessing reproductive care may allow for a broadening of the discussion on how to provide equal opportunities. The objective of this study was to develop and validate a questionnaire that seeks to identify socioeconomic and cultural characteristics of Brazilian infertile couples to open the discussion on the principle of fair access to health. METHODS: (1) literature review in the main databases, (2) questionnaire elaboration by researchers within the areas of human reproduction and bioethics, concerned with content adequacy and comprehension, using the Google Forms online platform, (3) pilot study - the questionnaire was applied to 54 couples, over 18 years of age, that were seeking treatment for infertility and accepted to participate in the study and (4) statistical analysis - for continuous numerical variables, mean, standard deviation and 95% CI of the means were presented. For discrete numerical variables, median, interquartile range, minimum and maximum were presented. RESULTS: Forty-four questionnaires were fully completed and with adequate answers. The questionnaire proved to be objective and easy to understand. It was possible to obtain information on education, race of the couple, the impact of infertility on the couple's life, socioeconomic conditions, and the main difficulties in accessing medical care for treatment of infertility. CONCLUSION: The questionnaire proved to be feasible in collecting appropriate information to characterize a target population and the only limitation was that there was no academic expert evaluation prior to the pilot test.


Assuntos
Infertilidade , Humanos , Adolescente , Adulto , Brasil , Projetos Piloto , Infertilidade/terapia , Infertilidade/epidemiologia , Inquéritos e Questionários , Escolaridade
17.
Femina ; 51(12): 682-686, 20231230.
Artigo em Português | LILACS | ID: biblio-1532471

RESUMO

A hiperplasia adrenal congênita (HAC) pode cursar com redução da fertilidade na mulher. Entretanto, nos casos em que ocorre gestação, os recém-nascidos das por- tadoras de hiperplasia adrenal congênita exibem risco de hiperandrogenismo, com todas as suas consequências. A presente revisão atualiza o tema, considerando também as necessidades da assistência a essas pacientes. A busca identificou 294 artigos na base de dados MEDLINE/PubMed de 1961 a março/2023, e os resultados mostraram que as portadoras de hiperplasia adrenal congênita exibem significativa redução da fertilidade. Nos casos de interesse de gestação, as portadoras de hiper- plasia adrenal congênita devem fazer um planejamento reprodutivo, envolvendo a fase antenatal, o acompanhamento pré-natal especializado, o parto e o aleitamento.


Congenital adrenal hyperplasia may lead to reduced male and female fertility. Mo- reover, when the pregnancy occurs, the newborns of patients with congenital adrenal hyperplasia are at risk of hyperandrogenism with all its consequences. This review updates the theme and emphasizes assistance needs. The search identified 294 ar- ticles in the MEDLINE/PubMed database from 1961 to March/2023, and the results showed that patients with congenital adrenal hyperplasia truly exhibit a significant reduction in fertility. In cases of interest in pregnancy, patients with congenital adre- nal hyperplasia should carry out reproductive planning, involving the antenatal pha- se, specialized prenatal care, till delivery and breastfeeding.


Assuntos
Humanos , Masculino , Feminino , Hiperplasia Suprarrenal Congênita/diagnóstico , Saúde Reprodutiva , Neoplasias Testiculares/complicações , Hiperandrogenismo/complicações , Infertilidade/complicações
20.
J Clin Invest ; 133(23)2023 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-37847567

RESUMO

Three sisters, born from consanguineous parents, manifested a unique Müllerian anomaly characterized by uterine hypoplasia with thin estrogen-unresponsive endometrium and primary amenorrhea, but with spontaneous tubal pregnancies. Through whole-exome sequencing followed by comprehensive genetic analysis, a missense variant was identified in the OSR1 gene. We therefore investigated OSR1/OSR1 expression in postpubertal human uteri, and the prenatal and postnatal expression pattern of Osr1/Osr1 in murine developing Müllerian ducts (MDs) and endometrium, respectively. We then investigated whether Osr1 deletion would affect MD development, using WT and genetically engineered mice. Human uterine OSR1/OSR1 expression was found primarily in the endometrium. Mouse Osr1 was expressed prenatally in MDs and Wolffian ducts (WDs), from rostral to caudal segments, in E13.5 embryos. MDs and WDs were absent on the left side and MDs were rostrally truncated on the right side of E13.5 Osr1-/- embryos. Postnatally, Osr1 was expressed in mouse uteri throughout their lifespan, peaking at postnatal days 14 and 28. Osr1 protein was present primarily in uterine luminal and glandular epithelial cells and in the epithelial cells of mouse oviducts. Through this translational approach, we demonstrated that OSR1 in humans and mice is important for MD development and endometrial receptivity and may be implicated in uterine factor infertility.


Assuntos
Infertilidade , Ductos Paramesonéfricos , Animais , Feminino , Humanos , Camundongos , Gravidez , Endométrio , Células Epiteliais , Ductos Paramesonéfricos/metabolismo , Útero
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