Results 41 to 50 of about 50,074,769 (205)

Cerebral Ventriculomegaly With Abnormality of the Aqueduct of Sylvius: A Case Series

Clinical Genetics, EarlyView.
Genetic testing leads to a diagnostic rate of ~30% in a fetal cohort with cerebral ventriculomegaly where the neuropathological examination revealed a stenosis or atresia of the aqueduct of Sylvius. ABSTRACT Fetal cerebral ventriculomegalies are brain anomalies with potentially poor neurodevelopmental prognosis.
Romain Nicolle, Laurence Loeuillet, Bettina Bessieres, Lucile Boutaud, Sarah Grotto, Nicolas Bourgon, Maryse Bonniere, Jelena Martinovic, Aude Tessier, Nathalie Roux, Giulia Petrilli, Naima Talhi, Marion Lesieur‐Sebellin, Jérémy Bertrand, Anaïs L'haridon, Aurélie Coussement, Marie‐Laure Maurin, Marie‐Paule Beaujard, Valérie Malan, Férechté Razavi, Tania Attie‐Bitach   +20 more
wiley   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2519-2524, November 2026.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Peripheral precocious puberty: 46,XY complete gonadal dysgenesis

Anales de Pediatría (English Edition), 2014
Despite standard clinical definitions and availability of diagnostic tests for precocious puberty, an intensive and structured investigation is needed in order to diagnose the aetiology in particular cases. A 4-year-old, phenotypically female child was referred to paediatric endocrinology consultation for premature pubarche and thelarche.
M, Santalha, B, Amaral, J, Pereira, L, Ribeiro, M, João Oliveira, S, Figueiredo, H, Cardoso, C, Peixoto, T, Borges, J A, Cidade-Rodrigues   +9 more
openaire   +2 more sources

Undetectable anti-Mullerian hormone and inhibin B do not preclude the presence of germ cell tumours in 45,X/46,XY or 46,XY gonadal dysgenesis [PDF]

, 2023
Objective: Individuals with 45,X/46,XY or 46,XY gonadal dysgenesis are at increased risk of germ cell malignancies. Therefore, prophylactic bilateral gonadectomy is advised in girls and considered in boys with atypical genitalia for undescended ...
Hennie T. Brüggenwirth, Remko Hersmus, Hersmus, Remko; id_orcid, Oosterhuis, J.  Wolter, Brüggenwirth, Hennie T., van Bever, Yolande, Sabine E. Hannema, Sjoerd A. A. van den Berg, van den Berg, Sjoerd A.A., Hannema, Sabine E., Wolffenbuttel, Katja P., Katja P. Wolffenbuttel, Leendert H. J. Looijenga, Looijenga, Leendert H.J., J. Wolter Oosterhuis, Yolande van Bever   +15 more
core   +1 more source

Incidence of Gonadal and Extragonadal Germ Cell Tumours in Patients With Klinefelter Syndrome

Andrology, Volume 14, Issue 7, Page 2274-2279, October 2026.
ABSTRACT Background Klinefelter's syndrome (KS; 47, XXY) is associated with an altered risk profile for malignancies compared with non‐KS males. In particular, several reports have noted a striking association between KS and extragonadal germ cell tumours (EGCTs), especially in the mediastinum, whereas the risk of testicular germ cell tumours (TGCTs ...
Aksh Tailor, Oishee Bandyopadhyay, Nahian Ahmed, Kapishan Shanmugathasan, Alice Cotton, ChingHao Chen, Tet Yap   +6 more
wiley   +1 more source

CRISPR/Cas9-mediated simultaneous knockout of Dmrt1 and Dmrt3 does not recapitulate the 46,XY gonadal dysgenesis observed in 9p24.3 deletion patients

Biochemistry and Biophysics Reports, 2017
DM domain transcription factors play important roles in sexual development in a wide variety of species from invertebrate to humans. Among seven mammalian family members of DM domain transcription factors, DMRT1 has been studied in mouse and human for ...
Masafumi Inui, Moe Tamano, Tomoko Kato, Shuji Takada   +3 more
doaj   +1 more source

Testicular Biopsies in Adolescent and Adult Andrological Patients: The EAA Clinical Guidelines

Andrology, Volume 14, Issue 7, Page 1906-1928, October 2026.
ABSTRACT Background Histological evaluation of testicular tissue is central to the assessment of infertile men, particularly those at an increased risk of testicular germ cell tumors (TGCT). Traditionally, testicular biopsies have been used primarily for diagnostic purposes, such as the detection of germ cell neoplasia in situ (GCNIS). With advances in
Lise Aksglaede, George Kanakis, Ewa Rajpert‐De Meyts, Davor Jezek, Ferran Algaba, Gert Dohle, Jolanta Slowikowska‐Hilczer, Sabine Kliesch, Hermann M. Behre, Csilla Krausz, Dimitrios G. Goulis, Niels Jørgensen   +11 more
wiley   +1 more source

A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication

, 2022
A region of 160 kb at Xp21.2 has been defined as dosage-sensitive sex reversal (DSS) and includes the NR0B1 gene, considered to be the candidate gene involved in XY gonadal dysgenesis if overexpressed.
Jakob A. Meinel, Ralf Werner, Beatriz A. Barros, Gil Guerra-Junior, Olaf Hiort, Vera Lúcia Gil-da-Silva-Lopes, Hauke Busch, Ana Paula Francese-Santos, Helena Fabbri-Scallet, Maricilda P. de Mello, Juliana G. R. Andrade, Axel Künstner, Andréa T. Maciel-Guerra, Cristiane S. C. Piveta   +13 more
core   +1 more source

Testicular Regression Syndrome: a case report

Autopsy and Case Reports, 2012
Testicular Regression Syndrome (TRS) is defined as the absence or an incomplete development of the testis of varying degrees in 46XY patients with normal external genitalia. The prevalence ranges from 3-20% of cases previously diagnosed as cryptorchidism.
Christiana de Freitas Vinhas, Aloísio Felipe-Silva, Ricardo Frank Coelho da Rocha   +2 more
doaj   +1 more source

Case Report: Long-term follow-up of desert hedgehog variant caused 46, XY gonadal dysgenesis with multiple complications in a Chinese child

Frontiers in Genetics, 2022
Background: Desert hedgehog (DHH), as a member of the Hedgehog (HH) family, is mainly involved in testicular development and peripheral nerve sheath formation.
Lili Pan, Zhuoguang Li, Zhe Su, Wei Su, Rongfei Zheng, Weiyan Chen, Xuezhi He, Jianming Song, Shoulin Li, Pengqiang Wen   +9 more
doaj   +1 more source