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1.
Taiwan J Obstet Gynecol ; 63(3): 402-404, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38802207

RESUMO

OBJECTIVE: To discuss several techniques of hysteroscopic surgery for complete septate uterus. CASE REPORT: A 40-year-old female with unexplained primary infertility was diagnosed with complete septate uterus with septate cervix. Hysteroscopic incision of complete septate uterus was performed by using ballooning technique. The patient conceived naturally shortly after the operation and delivered a healthy, term infant. CONCLUSION: Hysteroscopic incision of complete septate uterus is a safe and prompt way of metroplasty. With the knowledge obtained from a pre-operative MRI, it can be completed without laparoscopy and the need for hospitalization.


Assuntos
Colo do Útero , Histeroscopia , Útero , Humanos , Feminino , Adulto , Histeroscopia/métodos , Gravidez , Colo do Útero/anormalidades , Colo do Útero/cirurgia , Útero/anormalidades , Útero/cirurgia , Infertilidade Feminina/cirurgia , Infertilidade Feminina/etiologia , Nascimento a Termo , Anormalidades Urogenitais/cirurgia , Anormalidades Urogenitais/diagnóstico por imagem , Útero Septado
2.
Turk J Med Sci ; 54(1): 291-300, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38812630

RESUMO

Background/aim: Congenital anomalies of the kidney and urinary tract(CAKUT) are the leading causes of childhood chronic kidney disease (CKD). The etiology of most of the cases is thought to be multifactorial. In this study, risk factors for CAKUT and the effect of mobile phone-related electromagnetic field (EMF) exposure during pregnancy were investigated. Materials and methods: Fifty-seven cases and 57 healthy controls under 2 years of age were included and their mothers were subjected to a questionnaire. Groups were compared for parents' demographics, pregestational (chronic disease, body mass index, use of the folic acid supplements) and antenatal variables (gestational disease, weight gain during pregnancy,) and exposures during pregnancy. To assess mobile phone-related radiation exposure, all participants were asked about their daily call time, the proximity of the phone when not in use, and the models of their mobile phones. The specific absorption rate (SAR) of the mobile phones and the effective SAR value (SAR × call time) as an indicator of EMF exposure were recorded. Results: Excess weight gain according to BMI during pregnancy was related to an increased risk of CAKUT (p=0.012). Folic acid use before pregnancy was protective for CAKUT (p = 0.028). The call time of mothers of the CAKUT group was significantly longer than the control (p = 0.001). An association was observed between higher effective SAR values and increased risk of CAKUT (p = 0.03). However the proximity of the mobile phone to the mother's body when not in use was not found as a risk factor. Conclusion: The etiology of CAKUT is multifactorial. Our results suggest that prolonged phone call and higher EMF exposure during pregnancy increases the risk of CAKUT in the offspring.


Assuntos
Telefone Celular , Campos Eletromagnéticos , Humanos , Feminino , Gravidez , Fatores de Risco , Campos Eletromagnéticos/efeitos adversos , Adulto , Estudos de Casos e Controles , Anormalidades Urogenitais/epidemiologia , Anormalidades Urogenitais/etiologia , Exposição Materna/efeitos adversos , Efeitos Tardios da Exposição Pré-Natal/epidemiologia , Refluxo Vesicoureteral
3.
Zhongguo Zhong Yao Za Zhi ; 49(8): 2042-2046, 2024 Apr.
Artigo em Chinês | MEDLINE | ID: mdl-38812221

RESUMO

Uterine dysplasia is a common cause of infertility. Traditional Chinese medicine has unique advantages in the treatment of this disease. This paper introduces a case of infertility caused by uterine dysplasia treated by Professor MA Kun who adopted the therapy of tonifying kidney and activating blood, aiming to summarize the theoretical foundation and formula principles of Professor MA Kun in the clinical treatment of this disease. The kidney stores essence and governs reproduction. Kidney deficiency is the root cause of infertility. The deficiencies in kidney Qi, Yin, and Yang can result in blood stasis to obstruct the uterus, leading to insufficient source for essence and aggravating kidney deficiency. Kidney deficiency and blood stasis affect each other and form a vicious cycle, resulting in uterine dysplasia due to insufficient nutrition and difficult pregnancy. Therefore, Professor MA Kun believes that kidney deficiency and blood stasis is the key pathogenesis of infertility caused by uterine dysplasia and proposes the treatment principle of tonifying kidney and activating blood. Sufficient essence and Qi in the kidney can resolve stasis and generate blood, thus harmonizing Yin and Yang, which can reach thoroughfare and conception vessels to nourish the uterus and recover the normal physiological function of the uterus. In that case, normal pregnancy is possible. Professor MA Kun attaches importance to the therapeutic principle of supplementing Qi and nourishing blood. In addition, she advocates conforming to changes in the menstrual cycle to promote the development of the uterus and the implantation of fertilized eggs. She also integrates traditional Chinese medicine and western medicine to treat both symptoms and root causes. Professor MA Kun's experience has demonstrated definite clinical effect on this disease and can be taken as a reference.


Assuntos
Medicamentos de Ervas Chinesas , Infertilidade Feminina , Rim , Feminino , Humanos , Medicamentos de Ervas Chinesas/uso terapêutico , Infertilidade Feminina/etiologia , Infertilidade Feminina/tratamento farmacológico , Útero/anormalidades , Adulto , Medicina Tradicional Chinesa , Gravidez , Nefropatias/etiologia , Nefropatias/tratamento farmacológico , Anormalidades Urogenitais
4.
Pediatrics ; 153(6)2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38784992

RESUMO

Technological advancements before and after delivery have greatly altered the counseling of pregnant patients facing a fetal diagnosis of severe oligohydramnios or anhydramnios secondary to congenital anomalies of the kidneys and urinary tract. Once considered a nearly uniformly lethal abnormality, long-term survival may now be possible secondary to prenatal innovations aimed at restoring the amniotic fluid volume and the availability of more advanced neonatal dialysis techniques. However, these available therapies are far from perfect. The procedures are onerous for pregnant patients without a guarantee of success, and families must prepare themselves for the complex life-long medical care that will be necessary for surviving individuals. Multidisciplinary counseling is imperative to help pregnant individuals understand the complexity of these conditions and assist them in exercising their right to informed decision-making. Moreover, as with any developing field of medicine, providers must contend with ethical questions related to the treatment options, including questions regarding patient-hood, distributive justice, and the blurred lines between research, innovation, and standard care. These ethical questions are best addressed in a multidisciplinary fashion with consideration of multiple points of view from various subspecialties. Only by seeing the entirety of the picture can we hope to best counsel patients about these highly complex situations and help navigate the most appropriate care path.


Assuntos
Análise Ética , Humanos , Feminino , Gravidez , Rim/anormalidades , Sistema Urinário/anormalidades , Recém-Nascido , Anormalidades Urogenitais/terapia , Anormalidades Urogenitais/diagnóstico , Oligo-Hidrâmnio/terapia , Diagnóstico Pré-Natal/ética
5.
Zhonghua Fu Chan Ke Za Zhi ; 59(5): 353-359, 2024 May 25.
Artigo em Chinês | MEDLINE | ID: mdl-38797564

RESUMO

Objective: To investigate the clinical features, diagnosis and treatment of oblique vaginal septum syndrome (OVSS). Methods: The clinical data of 80 patients with OVSS admitted to The Second Hospital of Hebei Medical University from July 2005 to July 2023 were retrospectively analyzed. According to the classification system of OVSS proposed by Female Genital Anomalies Study Group, Chinese Obstetricians and Gynecologists Association in 2021, the patients were divided into four groups. The clinical manifestations, accompanied urinary system abnormalities, diagnosis and treatment methods and treatment outcomes were observed. Results: According to the above classification system, among the 80 patients with OVSS, 35 patients (44%, 35/80) were categorized as type Ⅰ, 33 patients (41%, 33/80) were categorized as type Ⅱ, 2 patients (3%, 2/80) were categorized as type Ⅲ and 10 patients (13%, 10/80) were categorized as type Ⅳ. The main onset symptom of patients was periodic abdominal pain (70%, 56/80), vaginal bleeding (20%, 16/80), dysuria or fecal impaction (15%, 12/80), vaginal mucopurulent discharge (10%, 8/80). The morbidity of combined urinary system abnormalities was 88% (70/80), and the most common urinary system abnormality was ipsilateral renal agenesis (81%, 65/80). Bilateral kidneys were normal in 13% (10/80) patients, and 6% (5/80) were combined with other urinary system abnormalities. A total of 74 patients underwent vaginal oblique septectomy or septum excision. Five of the 10 patients with type Ⅳ underwent hysterectomy on the cervical atresia side, 4 patients received hysteroscopy combined with cervicoplasty+oblique septotomy or septum excision, and one patient selected delayed menstruation. Two patients underwent laparoscopic resection of the dysplasia kidney and ectopic ureter which opening to the vagina. Eleven patients with endometriosis cyst, hydrosalpinx or empyema underwent laparoscopic surgery. Conclusions: The main symptom of type Ⅰ and Ⅳ patients is abdominal pain, while the main symptom of type Ⅱ and Ⅲ patients is bleeding. Magnetic resonance imaging (MRI) has advantages in the evaluation of complex OVSS, and MRI is recommended before operation to exclude other axial reproductive tract dysplasia and complex urinary system dysplasia. If there is leakage of urine, vaginal discharge or complex deformity, it is necessary to multidisciplinary discussion and formulate a reasonable surgical plan. The first treatment is related to the prognosis of patients especially children, and should be highly valued.


Assuntos
Vagina , Humanos , Feminino , Vagina/anormalidades , Vagina/cirurgia , Estudos Retrospectivos , China/epidemiologia , Dor Abdominal/etiologia , Anormalidades Urogenitais/cirurgia , Síndrome , Adulto , Resultado do Tratamento
6.
Zhonghua Fu Chan Ke Za Zhi ; 59(5): 360-367, 2024 May 25.
Artigo em Chinês | MEDLINE | ID: mdl-38797565

RESUMO

Objective: To explore the age of onset and consultation, the main clinical manifestations, common types of combined malformations, the relationship of endometriosis, surgical prognosis and different types of proportion of adolescent female reproductive system dysplasia. Methods: The medical records of 356 patients (aged 10-19) with female reproductive system dysplasia in Women's Hospital, School of Medicine, Zhejiang University from January 2003 to August 2018 were collected and retrospectively analyzed. Results: (1) Among the 356 adolescent dysplasia patients, uterine dysplasia (23.6%, 84/356), oblique vaginal septum syndrome (OVSS; 22.5%, 80/356) and vaginal dysplasia (21.6%, 77/356) were the most frequent ones, followed by multi-sectional dysplasia (16.0%, 57/356), other types of developmental abnormalities like external genitaliaand urogenital fistula (13.5%, 48/356) and Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome; 2.8%, 10/356). (2) There were significant differences between the median age of onset and the age of consultation of patients with OVSS and other types of abnormalities except hymen atresia (both P<0.05). In contrast, there were no significant differences between the age of onset and the age of consultation of the patients of uterine dysplasia, vaginal dysplasia, hymen atresia, MRKH syndrome and multi-sectional dysplasia (all P>0.05). (3) The clinical manifestations were lack of specificity, and mainly abnormal finding was lower abdominal pain. (4) After admission, the majority of patients underwent comprehensive cardiopulmonary examination (71.3%, 254/356) and urinary system examination (63.5%, 226/356). Only 18.3% (65/356) of patients had completed abdominal organ examination, and 5.9% (21/356) skeletal system examination. About other systemic malformations, urological malformations were the most common (27.5%, 98/356), followed by anorectal malformation (0.6%, 2/356), heart malformations (0.3%, 1/356), and spinal malformations (0.3%, 1/356). 46.4% (84/181) of the surgical patients were diagnosed with combined endometriosis. Patients with obstructive genital tract malformations were more likely to combine with endometriosis than non-obstructive ones [50.3% (74/147) vs 29.4% (10/34); P<0.05]. However, there was no significant difference between the severity of endometriosis of those two kinds (P>0.05). (5) Totally 308 patients were followed up successfully with a median of 25.0 years old, and 20 cases were treated again; 12.0% (37/308) of them were suffering from menstrual disorder and 33.1% (102/308) of them with dysmenorrhea. Totally 130 patients had sexually active reported no sexual problems. Conclusions: Uterine dysplasia, OVSS and vaginal dysplasia are the most common syndromes in adolescent female reproductive system dysplasia along with frequent cases of coexisting urinary malformations and increasing risks of endometriosis. Meanwhile, the lack of specificity of clinical manifestations might delay the timely diagnosis and treatment after the onset of symptoms. Nonetheless, most patients could achieve good surgical outcomes.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual , Anormalidades Congênitas , Endometriose , Ductos Paramesonéfricos , Útero , Vagina , Humanos , Feminino , Adolescente , Estudos Retrospectivos , Vagina/anormalidades , Vagina/cirurgia , Ductos Paramesonéfricos/anormalidades , Endometriose/cirurgia , Endometriose/diagnóstico , Endometriose/patologia , Transtornos 46, XX do Desenvolvimento Sexual/cirurgia , Anormalidades Congênitas/epidemiologia , Útero/anormalidades , Útero/cirurgia , Útero/patologia , Adulto Jovem , Anormalidades Urogenitais/cirurgia , Anormalidades Múltiplas/epidemiologia , Criança , Prognóstico , Genitália Feminina/anormalidades , Genitália Feminina/cirurgia , Genitália Feminina/patologia
7.
Zhonghua Fu Chan Ke Za Zhi ; 59(5): 346-352, 2024 May 25.
Artigo em Chinês | MEDLINE | ID: mdl-38797563

RESUMO

Objective: To analyze the incidence and clinical phenotype of the concomitant extragenital malformations in the patients with female reproductive tract anomalies. Methods: A retrospective study was conducted using clinical data of hospitalized patients diagnosed with uterine, cervical, or vaginal malformations from January 2003 to December 2022 in Peking Union Medical College Hospital. The malformations were classified according to American Society for Reproductive Medicine müllerian anomalies classification 2021, and in each type, the incidence and specific manifestations of concomitant extragnital malformations were analyzed. Results: A total of 444 patients were included. The overall incidence of concomitant extragenital malformations was 43.5% (193/444), including urinary system, skeletal system, and other system malformations. Renal malformations on the obstructed side were present in all patients with oblique vaginal septum syndrome (100.0%, 78/78). The total incidence of concomitant extragnital malformations was as high as 8/11 in uterus didelphys, 43.5% (10/23) in unicornuate uterus, 33.6% (79/235) in Mayer-Rokitansky-Küster-Hauser syndrome, 18.8% (6/32) in septate uterus and 18.5% (12/65) in cervical agenesis. Urinary system malformations (30.6%, 136/444) and skeletal system malformations (13.5%, 60/444) were the most common concomitant malformations in all types, in which, unilateral renal agenesis and scoliosis were the most common. Conclusions: Urinary and skeletal system malformations are important features of female reproductive tract anomalies. Urologic ultrasonography and spinal roentgenogram are recommended for all patients with female reproductive tract anomalies.


Assuntos
Anormalidades Múltiplas , Ductos Paramesonéfricos , Anormalidades Urogenitais , Útero , Vagina , Humanos , Feminino , Estudos Retrospectivos , Anormalidades Urogenitais/epidemiologia , Útero/anormalidades , Vagina/anormalidades , Ductos Paramesonéfricos/anormalidades , Incidência , Anormalidades Múltiplas/epidemiologia , Transtornos 46, XX do Desenvolvimento Sexual/epidemiologia , Rim/anormalidades , Colo do Útero/anormalidades , Colo do Útero/patologia , Genitália Feminina/anormalidades , China/epidemiologia , Anormalidades Congênitas/epidemiologia , Adulto
8.
Endocrinol Diabetes Nutr (Engl Ed) ; 71(4): 171-176, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38735678

RESUMO

Herlyn-Werner-Wunderlich syndrome is an uncommon urogenital anomaly defined by uterus didelphys, obstructed hemi-vagina and unilateral renal anomalies. The most common clinical presentation is dysmenorrhoea following menarche, but it can also present as pain and an abdominal mass. Prader-Willi syndrome is a rare neuroendocrine genetic syndrome. Hypothalamic dysfunction is common and pituitary hormone deficiencies including hypogonadism are prevalent. We report the case of a 33-year-old female with Prader-Willi syndrome who was referred to the Gynaecology clinic due to vaginal bleeding and abdominal pain. Abdominal ultrasound revealed a haematometra and haematocolpos and computed tomography showed a uterus malformation and a right uterine cavity occupation (hematometra) as well as right kidney agenesis. Vaginoscopy and hysteroscopy were performed under general anaesthesia, finding a right bulging vaginal septum and a normal left cervix and hemiuterus. Septotomy was performed with complete haematometrocolpos drainage. The association of the two syndromes remains unclear.


Assuntos
Nefropatias/congênito , Rim , Síndrome de Prader-Willi , Útero , Vagina , Humanos , Feminino , Adulto , Síndrome de Prader-Willi/complicações , Vagina/anormalidades , Vagina/cirurgia , Rim/anormalidades , Útero/anormalidades , Útero/diagnóstico por imagem , Anormalidades Múltiplas , Hematometra/etiologia , Hematocolpia/etiologia , Anormalidades Urogenitais/complicações , Anormalidades Congênitas , Dor Abdominal/etiologia
9.
BMC Womens Health ; 24(1): 300, 2024 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-38769573

RESUMO

BACKGROUND: Concomitant invasive ovarian mucinous adenocarcinoma, unilateral renal agenesis and bicornuate uterus is a rare combination. Unilateral renal agenesis has been associated with genital anomalies, such as unicornuate and bicornuate uterus. Furthermore, a wealth of studies has reported the association between unicornuate uterus and ovarian anomalies, such as the absence of an ovary or ectopic ovaries, but rarely has there been a combination of the three to the best of our knowledge. The present case report is the first case presentation with a combination of the three syndromes: ovarian mucinous tumor, unilateral renal agenesis, and bicornuate uterus. CASE PRESENTATION: We report the case of a 17-year-old who presented with abdominal distension. On examination, a CT scan revealed a large multicystic abdominal mass on the right side, with an absence of the right kidney while the left kidney was normal in size, appearance, and position. Intraoperatively, massive blood-stained ascitic fluid was evacuated. Additionally, a large whitish polycystic intra-abdominal mass with mucus-like materials and solid areas was attached to the midpoint of the colon and the right ovary, with visible metastasis to the omentum. The uterus was bicornuate. The mass and omentum were taken for histopathology and a diagnosis of invasive ovarian mucinous cystadenocarcinoma with metastasis to the colon and omentum was made after a pathological report. CONCLUSIONS: The presence of these conditions in the same individual could potentially complicate medical management and fertility considerations. Thus, a need for a multidisciplinary medical team, including gynecologists, urologists, and oncologists, to address their unique needs and provide appropriate treatment and guidance. Further research and case studies are needed to better understand the possible association and implications of these rare co-occurring conditions.


Assuntos
Adenocarcinoma Mucinoso , Neoplasias Ovarianas , Útero , Humanos , Feminino , Neoplasias Ovarianas/complicações , Neoplasias Ovarianas/patologia , Adenocarcinoma Mucinoso/complicações , Adenocarcinoma Mucinoso/diagnóstico , Adenocarcinoma Mucinoso/patologia , Adolescente , Útero/anormalidades , Útero/patologia , Rim/anormalidades , Rim/patologia , Rim Único/complicações , Anormalidades Urogenitais/complicações , Anormalidades Congênitas , Tomografia Computadorizada por Raios X , Útero Bicorno
10.
Biochem Biophys Res Commun ; 714: 149959, 2024 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-38657443

RESUMO

Gestational diabetes mellitus (GDM) presents a substantial population health concern. Previous studies have revealed that GDM can ultimately influence nephron endowment. In this study, we established a GDM mouse model to investigate the embryological alterations and molecular mechanisms underlying the development of congenital anomalies of the kidney and urinary tract (CAKUT) affected by GDM. Our study highlights that GDM could contribute to the manifestation of CAKUT, with prevalent phenotypes characterized by isolated hydronephrosis and duplex kidney complicated with hydronephrosis in mice. Ectopic ureteric buds (UBs) and extended length of common nephric ducts (CNDs) were noted in the metanephric development stage. The expression of Ret and downstream p-ERK activity were enhanced in UBs, which indicated the alteration of RET/MAPK/ERK pathway may be one of the mechanisms contributing to the increased occurrence of CAKUT associated with GDM.


Assuntos
Diabetes Gestacional , Sistema de Sinalização das MAP Quinases , Proteínas Proto-Oncogênicas c-ret , Anormalidades Urogenitais , Refluxo Vesicoureteral , Animais , Feminino , Camundongos , Gravidez , Diabetes Gestacional/metabolismo , Rim/anormalidades , Rim/metabolismo , Rim/embriologia , Proteínas Proto-Oncogênicas c-ret/metabolismo , Proteínas Proto-Oncogênicas c-ret/genética , Sistema Urinário/anormalidades , Sistema Urinário/embriologia , Anormalidades Urogenitais/etiologia , Anormalidades Urogenitais/genética , Anormalidades Urogenitais/patologia
11.
Hum Genomics ; 18(1): 41, 2024 Apr 24.
Artigo em Inglês | MEDLINE | ID: mdl-38654324

RESUMO

BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) are prevalent birth defects. Although pathogenic CAKUT genes are known, they are insufficient to reveal the causes for all patients. Our previous studies indicated GEN1 as a pathogenic gene of CAKUT in mice, and this study further investigated the correlation between GEN1 and human CAKUT. METHODS: In this study, DNA from 910 individuals with CAKUT was collected; 26 GEN1 rare variants were identified, and two GEN1 (missense) variants in a non-CAKUT group were found. Mainly due to the stability results of the predicted mutant on the website, in vitro, 10 variants (eight CAKUT, two non-CAKUT) were selected to verify mutant protein stability. In addition, mainly based on the division of the mutation site located in the functional region of the GEN1 protein, 8 variants (six CAKUT, two non-CAKUT) were selected to verify enzymatic hydrolysis, and the splice variant GEN1 (c.1071 + 3(IVS10) A > G) was selected to verify shear ability. Based on the results of in vitro experiments and higher frequency, three sites with the most significant functional change were selected to build mouse models. RESULTS: Protein stability changed in six variants in the CAKUT group. Based on electrophoretic mobility shift assay of eight variants (six CAKUT, two non-CAKUT), the enzymatic hydrolysis and DNA-binding abilities of mutant proteins were impaired in the CAKUT group. The most serious functional damage was observed in the Gen1 variant that produced a truncated protein. A mini-gene splicing assay showed that the variant GEN1 (c.1071 + 3(IVS10) A > G) in the CAKUT group significantly affected splicing function. An abnormal exon10 was detected in the mini-gene splicing assay. Point-mutant mouse strains were constructed (Gen1: c.1068 + 3 A > G, p.R400X, and p.T105R) based on the variant frequency in the CAKUT group and functional impairment in vitro study and CAKUT phenotypes were replicated in each. CONCLUSION: Overall, our findings indicated GEN1 as a risk factor for human CAKUT.


Assuntos
Anormalidades Urogenitais , Refluxo Vesicoureteral , Animais , Feminino , Humanos , Masculino , Camundongos , Predisposição Genética para Doença , Rim/anormalidades , Rim/patologia , Rim/metabolismo , Mutação/genética , Estabilidade Proteica , Fatores de Risco , Sistema Urinário/anormalidades , Sistema Urinário/patologia , Anormalidades Urogenitais/genética , Anormalidades Urogenitais/patologia , Refluxo Vesicoureteral/genética , Refluxo Vesicoureteral/patologia
12.
Clin Genet ; 106(1): 102-108, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38558253

RESUMO

Pathogenic germline variants in the FOXL2 gene are associated with Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) in humans, an autosomal dominant condition. Two forms of BPES have emerged: (i) type I (BPES-I), characterized by ocular signs and primary ovarian failure (POI), and (ii) type II (BPES-II) with no systemic associations. This study aimed to compare the distribution of FOXL2 variants in idiopathic POI/DOR (diminished ovarian reserve) and both types of BPES, and to determine the involvement of FOXL2 in non-syndromic forms of POI/DOR. We studied the whole coding region of the FOXL2 gene using next-generation sequencing in 1282 patients with non-syndromic POI/DOR. Each identified FOXL2 variant was compared to its frequency in the general population, considering ethnicity. Screening of the entire coding region of the FOXL2 gene allowed us to identify 10 different variants, including nine missense variants. Of the patients with POI/DOR, 14 (1%) carried a FOXL2 variant. Significantly, six out of nine missense variants (67%) were overrepresented in our POI/DOR cohort compared to the general or specific ethnic subgroups. Our findings strongly suggest that five rare missense variants, mainly located in the C-terminal region of FOXL2 are high-risk factors for non-syndromic POI/DOR, though FOXL2 gene implication accounts for approximately 0.54% of non-syndromic POI/DOR cases. These results support the implementation of routine genetic screening for patients with POI/DOR in clinical settings.


Assuntos
Blefarofimose , Proteína Forkhead Box L2 , Mutação de Sentido Incorreto , Insuficiência Ovariana Primária , Humanos , Proteína Forkhead Box L2/genética , Feminino , Insuficiência Ovariana Primária/genética , Mutação de Sentido Incorreto/genética , Blefarofimose/genética , Adulto , Sequenciamento de Nucleotídeos em Larga Escala , Predisposição Genética para Doença , Anormalidades da Pele/genética , Anormalidades Urogenitais/genética , Fatores de Transcrição Forkhead/genética , Fenótipo
13.
Radiologie (Heidelb) ; 64(5): 373-381, 2024 May.
Artigo em Alemão | MEDLINE | ID: mdl-38575809

RESUMO

CLINICAL ISSUE: Congenital anomalies of the urogenital tract are common, whereas isolated developmental disorders of the genital organs are rare and varied. The type and timing of imaging to characterize these developmental disorders and the planning of any treatment are the subject of discussion. The aim of this article is to provide a brief overview of embryology, diagnostic procedures, and examples of findings. STANDARD RADIOLOGICAL METHODS: The primary procedure for imaging the genitals is sonography, which must be performed with appropriate empathy. In addition to the genitals, the general situation of the kidneys and urinary tract should be examined, as urogenital malformations are often combined. Dedicated magnetic resonance imaging (MRI) is indicated as advanced imaging in interdisciplinary consultations. Invasive procedures, such as genitography combined with micturition cystourethrography (MCU) using X­rays or contrast-enhanced sonography, are rarely required. Computed tomography (CT) or excretory urography play no role. CONCLUSION: Imaging plays an important role in the assessment of genital anomalies. Knowledge of embryology facilitates anatomical understanding and the assessment of pathologies.


Assuntos
Imageamento por Ressonância Magnética , Anormalidades Urogenitais , Criança , Feminino , Humanos , Recém-Nascido , Masculino , Ultrassonografia/métodos , Anormalidades Urogenitais/diagnóstico , Anormalidades Urogenitais/diagnóstico por imagem
14.
BMC Nephrol ; 25(1): 139, 2024 Apr 22.
Artigo em Inglês | MEDLINE | ID: mdl-38649831

RESUMO

BACKGROUND: Renal tubular dysgenesis (RTD) is a severe disorder with poor prognosis significantly impacting the proximal tubules of the kidney while maintaining an anatomically normal gross structure. The genetic origin of RTD, involving variants in the ACE, REN, AGT, and AGTR1 genes, affects various enzymes or receptors within the Renin angiotensin system (RAS). This condition manifests prenatally with oligohydramninos and postnatally with persistent anuria, severe refractory hypotension, and defects in skull ossification. CASE PRESENTATION: In this report, we describe a case of a female patient who, despite receiving multi vasopressor treatment, experienced persistent hypotension, ultimately resulting in early death at five days of age. While there was a history of parental consanguinity, no reported family history of renal disease existed. Blood samples from the parents and the remaining DNA sample of the patient underwent Whole Genome Sequencing (WGS). The genetic analysis revealed a rare homozygous loss of function variant (NM_000685.5; c.415C > T; p.Arg139*) in the Angiotensin II Receptor Type 1 (AGTR1) gene. CONCLUSION: This case highlights the consequence of loss-of-function variants in AGTR1 gene leading to RTD, which is characterized by high mortality rate at birth or during the neonatal period. Furthermore, we provide a comprehensive review of previously reported variants in the AGTR1 gene, which is the least encountered genetic cause of RTD, along with their associated clinical features.


Assuntos
Túbulos Renais Proximais/anormalidades , Receptor Tipo 1 de Angiotensina , Anormalidades Urogenitais , Humanos , Feminino , Receptor Tipo 1 de Angiotensina/genética , Recém-Nascido , Mutação com Perda de Função , Evolução Fatal , Hipotensão/genética
15.
J Pediatr Surg ; 59(7): 1262-1265, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38584008

RESUMO

BACKGROUND: There is wide variation in the language used to describe Mullerian structures. To standardize terminology, the American Society of Reproductive Medicine (ASRM) created the Mullerian Anomalies Classification (MAC) in 2021. The objective of this study was to evaluate the applicability of the MAC nomenclature to pediatric patients with cloaca. METHODS: A retrospective review of all patients with cloaca was performed at a single institution. Descriptions of Mullerian structures were evaluated and compared to the ASRM MAC categories. Descriptive statistics were used to report findings. RESULTS: 36 patients with cloaca were identified, 13 (36%) of whom had congenital Mullerian structures that could not be adequately described by the MAC terminology. All 13 patients had two hemiuteri that were not connected in the midline and were not accurately described as uterus didelphys. Additionally, 5 of these 13 patients had reproductive anatomy that was connected by a fistula or ectopic connection to other pelvic structures. CONCLUSION: Despite the ASRM expansion of the Mullerian anomalies nomenclature, more than a third of our patients with cloaca could not have their Mullerian structures accurately described. Describing anatomy with accurate and consistent language can improve communication between healthcare providers and may allow patients and families to better anticipate fertility options. STUDY TYPE: Retrospective. LEVEL OF EVIDENCE: IV.


Assuntos
Cloaca , Ductos Paramesonéfricos , Terminologia como Assunto , Humanos , Estudos Retrospectivos , Feminino , Cloaca/anormalidades , Ductos Paramesonéfricos/anormalidades , Anormalidades Urogenitais/classificação , Anormalidades Urogenitais/diagnóstico por imagem , Anormalidades Urogenitais/cirurgia , Criança , Útero/anormalidades , Lactente , Pré-Escolar , Adolescente
16.
J Med Case Rep ; 18(1): 209, 2024 Apr 26.
Artigo em Inglês | MEDLINE | ID: mdl-38664817

RESUMO

BACKGROUND: We present a severe neonatal consequence due to the unexpected and crucial inversion of the fetal position after sudden termination of tocolysis during early labor of a woman with congenital uterine anomaly. It has been reported that congenital uterine anomalies latently affect the fetal position. The clinical pitfalls in childbirth with uterine anomalies are discussed here on the basis of clinical evidence. CASE PRESENTATION: At a perinatal medical center in Japan, a 29-year-old Japanese mother who had a history of bicornuate uterus, received tocolysis to prolong her pregnancy for 5 days during the late preterm period after preterm-premature rupture of the membrane. She gave birth to a 2304 g male neonate of the gestational age of 35 weeks and 5 days with severe asphyxia by means of crash cesarean section for fetal sustained bradycardia after sudden termination of tocolysis. We found the fetal position to reverse from cephalic to breech position during early labor. He ended up having severe cerebral palsy after brain cooling against hypoxic-ischemic encephalopathy for 3 days. The mechanism of inversion from cephalic to breech position without amnionic fluid remains unclear, although women with a known diagnosis of a uterine anomaly have higher risk of adverse outcomes such as malpresentation. CONCLUSIONS: When considering the clinical course of this case on the basis of the medical reports, we suspected that uterine anomalies and changes in intrauterine pressure could cause fetal malpresentation and adverse neonatal outcomes.


Assuntos
Cesárea , Útero/anormalidades , Humanos , Feminino , Gravidez , Adulto , Recém-Nascido , Masculino , Tocólise , Anormalidades Urogenitais/complicações , Asfixia Neonatal/complicações , Apresentação no Trabalho de Parto , Asfixia , Apresentação Pélvica
17.
Sci Rep ; 14(1): 9520, 2024 04 25.
Artigo em Inglês | MEDLINE | ID: mdl-38664452

RESUMO

The link between neonatal jaundice and urinary tract infection (UTI) remains debated, with congenital kidney and urinary tract anomalies (CAKUT) potentially playing a role. This population-based study aimed to analyze the correlations between neonatal jaundice, CAKUT, and concomitant UTI. The study cohort consisted of 2,078,122 live births from 2004 to 2014. We linked several population-based datasets in Taiwan to identify infants with unexplained neonatal jaundice and their mothers. The primary outcome was the rate of CAKUT occurring within 3 years after delivery, and the presence of concomitant UTI during neonatal jaundice hospitalization. Infants with neonatal jaundice had a significantly higher risk of CAKUT (adjusted odds ratio [aOR] 1.24, 95% confidence interval [CI] 1.11-1.39) during early childhood. Among the subtypes of CAKUT, obstructive uropathy, vesicoureteral reflux and other CAKUT were associated with an increased risk of neonatal jaundice. Infants who underwent intensive phototherapy, had a late diagnosis (> 14 days of postnatal age) or underwent a prolonged duration of phototherapy (> 3 days) exhibited a higher risk of concomitant UTI compared to other infants with jaundice. Our findings indicate a notable association between neonatal jaundice and increased risks of UTIs in the context of CAKUT. This study underscore the importance of vigilant monitoring and timely interventions for neonates presenting with jaundice, while acknowledging the complexity and variability in the progression of CAKUT and its potential connection to UTIs.


Assuntos
Icterícia Neonatal , Infecções Urinárias , Refluxo Vesicoureteral , Humanos , Infecções Urinárias/complicações , Infecções Urinárias/epidemiologia , Icterícia Neonatal/epidemiologia , Icterícia Neonatal/complicações , Icterícia Neonatal/etiologia , Feminino , Recém-Nascido , Masculino , Taiwan/epidemiologia , Fatores de Risco , Rim/anormalidades , Lactente , Sistema Urinário/anormalidades , Anormalidades Urogenitais/complicações , Anormalidades Urogenitais/epidemiologia
18.
Tunis Med ; 102(2): 116-118, 2024 Feb 05.
Artigo em Inglês | MEDLINE | ID: mdl-38567479

RESUMO

INTRODUCTION: Eighty-five per cent of uterine inversions are puerperal. Non-puerperal uterine inversion is usually caused by tumours that exert a traction force on the fundus of the uterus. This causes the uterus to be partially or completely inverted. It is commonly related to benign tumours like submucosal leiomyomas. Nevertheless, malignancies are an infrequent association. CASE PRESENTATION: We report a case of a 35-year-old female patient, medically and surgically free, gravida0 para0, complaining of menometrorrhagia associated with pelvic pain for 2 years. A suprapubic ultrasound scan showed an enlarged, globular uterus with a heterogeneous, undefined mass of 49 mm in size. MRI scan showed the appearance of a U-shaped uterine cavity and a thickened inverted uterine fundus with an endometrial infiltrating mass of 25 mm. Intraoperative exploration showed uterine inversion involving the ovaries; the fallopian tubes and the round ligaments and a necrotic intracavitary mass. The malignancy of the tumor was confirmed through anatomopathological examination as Adenosarcoma. CONCLUSIONS: Uterine inversion is rare outside the puerperal period, and malignant etiology must not be overlooked. Therefore, comprehensive care with meticulous etiological investigation is crucial.


Assuntos
Adenossarcoma , Leiomioma , Anormalidades Urogenitais , Inversão Uterina , Neoplasias Uterinas , Útero/anormalidades , Feminino , Humanos , Adulto , Inversão Uterina/diagnóstico , Inversão Uterina/etiologia , Inversão Uterina/cirurgia , Neoplasias Uterinas/complicações , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/cirurgia , Adenossarcoma/complicações , Adenossarcoma/diagnóstico , Adenossarcoma/cirurgia , Leiomioma/cirurgia
19.
Int J Mol Sci ; 25(7)2024 Mar 26.
Artigo em Inglês | MEDLINE | ID: mdl-38612512

RESUMO

TRAF7-related disorders represent some of the rarest inherited disorders, exhibiting clinical features that overlap with cardiac, facial, and digital anomalies with developmental delay (CAFDADD) syndrome, as well as blepharophimosis-mental retardation syndrome (BMRS). A 36-year-old male, presenting with total blindness, blepharophimosis, and intellectual disability, was admitted for the assessment of resting dyspnea several months previously. He had a history of being diagnosed with obstructive sleep apnea (OSA). Transesophageal and transthoracic echocardiography unveiled right ventricular dilatation without significant pulmonary hypertension, bicuspid aortic valve with aortic root aneurysm, and aortic regurgitation in the proband. Sanger sequencing identified a de novo TRAF7 variant (c.1964G>A; p.Arg655Gln). Subsequently, aortic root replacement using the Bentall procedure was performed. However, despite the surgery, he continued to experience dyspnea. Upon re-evaluating OSA with polysomnography, it was discovered that continuous positive airway pressure support alleviated his symptoms. The underlying cause of his symptoms was attributed to OSA, likely exacerbated by the vertebral anomaly and short neck associated with CAFDADD syndrome. Clinicians should be attentive to the symptoms associated with OSA as it is a potentially serious medical condition in patients with TRAF7 variants.


Assuntos
Blefarofimose , Anormalidades da Pele , Apneia Obstrutiva do Sono , Anormalidades Urogenitais , Masculino , Humanos , Adulto , Dispneia , República da Coreia , Peptídeos e Proteínas Associados a Receptores de Fatores de Necrose Tumoral
20.
Ital J Pediatr ; 50(1): 79, 2024 Apr 20.
Artigo em Inglês | MEDLINE | ID: mdl-38641829

RESUMO

BACKGROUND: Reviews on Down syndrome do not or only marginally address the issue of kidney and urogenital tract abnormalities, and lower urinary tract dysfunctions. Hence, we performed a meta-analysis of the literature.  METHODS: A literature search was undertaken in the Library of Medicine, Web of Science and Excerpta Medica. The search algorithm combined various keywords: (Down syndrome OR trisomy 21 OR mongolism) AND (kidney OR urinary tract OR bladder) AND (malformation OR dysfunction OR anomaly OR abnormality OR size). The Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement was used. RESULTS: Eight case-control studies were retained for the final analysis. Three studies addressed the prevalence of kidney and urogenital tract abnormalities: an increased pooled relative risk of 5.49 (95%-CI: 1.78-16.93) was observed in Down syndrome. Penile malformations, obstructive malformations (including urethral valves), dilated urinary tract system, and kidney hypodysplasia were especially common. Three reports addressed the prevalence of lower urinary tract dysfunction: an increased pooled relative risk of 2.95 (95%-CI: 1.15-7.56) was observed. Finally, an autoptic study and an ultrasound study disclosed a reduced kidney size in Down syndrome. CONCLUSIONS: This meta-analysis indicates that abnormalities of the kidney and urogenital tract, lower urinary tract dysfunctions, and a reduced kidney size present with an increased frequency in individuals with Down syndrome.


Assuntos
Síndrome de Down , Sistema Urinário , Anormalidades Urogenitais , Humanos , Síndrome de Down/complicações , Síndrome de Down/epidemiologia , Rim/anormalidades , Sistema Urinário/anormalidades , Anormalidades Urogenitais/complicações , Anormalidades Urogenitais/epidemiologia
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