Results 91 to 100 of about 3,198 (197)

Intestinal Atresia in PPP1R12A ‐Related Urogenital and Brain Malformation Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes, Sanjana Karamcheti, Álvaro Martín Rodriguez, Anna‐Kaisa Niemi, Lynne M. Bird   +4 more
wiley   +1 more source

Clinical, pathological and morphometric study of ten male disgenetic pseudohermaphroditism (DSD 46,XY)

, 2010
O Pseudohermafroditismo masculino disgenético (Anomalia da diferenciação sexual 46,XY ADS 46,XY) é definido como ambigüidade genital num paciente com testículos e/ou cariótipo 46,XY com uma das seguintes características: alteração histológica testicular,
Guedes, Dulce Rondina, Dulce Rondina Guedes   +1 more
core   +1 more source

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome [PDF]

, 2019
PURPOSE: XY individuals with disorders/differences of sex development (DSD) are characterized by reduced androgenization caused, in some children, by gonadal dysgenesis or testis regression during fetal development. The genetic etiology for most patients
Eozenou, Caroline, Sallai, A, Merel, Tiphanie, Merel, T, Jauch, R, Buonocore, F, Warr, Nick, Eozenou, C, Bignon-Topalovic, Joelle, Carel, J-C, Greenfield, Andy, van Maldergem, Lionel, Houzelstein, D, Bashamboo, Anu, Mignot, B, Mazen, Inas, Houzelstein, Denis, Siffroi, J-P, Brauner, Raja, Tan, DS, Leger, Juliane, Sallai, Agnes, Kay, Raissa G G, Shcherbak, Y, Jorgensen, A, Bertalan, Rita, Kay, Raissa G. G., Achermann, John,, Achermann, John C, Van Maldergem, L, Conway, GS, Bertalan, R, Achermann, John, C, Le Ru, Romain, Globa, Evgenia, Nef, S, Bashamboo, A, Martinerie, L, Warr, N, Bignon-Topalovic, J, Achermann, JC, Tan, Daisylyn Senna, Shcherbak, Yuliya, Jørgensen, Anne, Kay, Raissa, G G, Le Ru, R, Peycelon, M, Greenfield, A, Mcelreavey, Ken, Peycelon, Matthieu, Nef, Serge, Jorgensen, Anne, Buonocore, Federica, Conway, Gerard S, Brauner, R, Maldergem, LV, Mazen, I, Leger, J, Achermann, John C., Kay, RGG, Jauch, Ralf, Conway, Gerard, McElreavey, K, Martinerie, Laetitia, Globa, E, Carel, Jean-Claude, Kay, Raissa,, Conway, Gerard S., Siffroi, Jean-Pierre, Mignot, Brigitte   +69 more
core   +1 more source

Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development [PDF]

, 2017
Purpose Disorders or differences of sex development (DSDs) are rare congenital conditions characterized by atypical sex development. Despite advances in genomic technologies, the molecular cause remains unknown in 50% of cases.
Gomes, N.L., Guran, T. (Tulay), Vuylsteke, M. (Marnik), Verdin, H. (Hanna), Baetens, D. (Dorien), Looijenga, L.H.J. (Leendert), Cools, M.B.C.M. (Martine), Mendonça, B.B. (Berenice), De Cauwer, L. (Lode), Stoop, J.A. (Hans), De Baere, E. (Elfride), Peelman, F. (Frank), Linden, M. (Malaïka) van der, De Boscher, K. (Karolien)   +13 more
core   +3 more sources

A novel CUL4B gene variant activating Wnt4/β-catenin signal pathway to karyotype 46, XY female with disorders of sex development

Biological Research
Background Karyotype 46, XY female disorders of sex development (46, XY female DSD) are congenital conditions due to irregular gonadal development or androgen synthesis or function issues.
Chunlin Wang, Hong Chen, Qingqing Chen, Yangbin Qu, Ke Yuan, Li Liang, Qingfeng Yan   +6 more
doaj   +1 more source

In-depth exploration of differences of sex development: 5-year experience in a tertiary center

Endocrine Connections
Background: Differences/disorders of sex development (DSD) encompass a wide range of conditions. Their clinical spectrum and etiological diagnosis have not been reported in Moroccan patients.
Mohamed Hssaini, Sana Abourazzak, Ihsane El Otmani, Mohamed Ahakoud, Amina Ameli, Laila Bouguenouch, Hicham Bekkari   +6 more
doaj   +1 more source

Perspectives on Fetal Sex and Prenatal Diagnosis of Differences of Sex Development Among Midwives

Prenatal Diagnosis, Volume 45, Issue 13, Page 1746-1756, December 2025.
ABSTRACT Objective Cell‐free DNA screening has increased prenatal diagnosis/suspicion of fetal differences of sex development (DSD). This study explored how midwives discuss fetal sex and possible DSD with pregnant patients. Method Active members of the American College of Nurse‐Midwives were surveyed electronically to assess terminology use when ...
Madeline Dingle, Sharon Aufox, Emilie K. Johnson, Jeffrey S. Dungan, Aimee Clark, Katie Abihider, Allison Goetsch Weisman   +6 more
wiley   +1 more source

Gene therapy for disorders of sex development: current applications and future challenges

Frontiers in Genetics
Disorders of sex development (DSD) represent a spectrum of congenital conditions where discrepancies exist between chromosomal, gonadal, or anatomical sex.
Wenyuan Peng, Qian Zhao, Jiali Chen, Huifang Peng, Hongwei Jiang   +4 more
doaj   +1 more source

Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development

Endocrine Connections, 2018
46,XY differences and/or disorders of sex development (DSD) are clinically and genetically heterogeneous conditions. Although complete androgen insensitivity syndrome has a strong genotype–phenotype correlation, the other types of 46,XY DSD are less well
Zofia Kolesinska, James Acierno, S Faisal Ahmed, Cheng Xu, Karina Kapczuk, Anna Skorczyk-Werner, Hanna Mikos, Aleksandra Rojek, Andreas Massouras, Maciej R Krawczynski, Nelly Pitteloud, Marek Niedziela   +11 more
doaj   +1 more source

OCCULT MOSAICISM OF KARYOTYPING IN 45,X / 46,XY DSD

Journal of the ASEAN Federation of Endocrine Societies
INTRODUCTIONDisorder of sex development (DSD) with 45,X/46,XY mosaicism is a rare disorder. The prevalence is estimated to be less than 1:20,000. CASEA term baby, born with a good Apgar score at Hospital Sultan Abdul Halim. Genital examination showed atypical appearance with genital tubercle measuring 1.8 cm, bilateral labio-scrotal folds partially ...
Nurul Ain Shahirah Shahidan, Per Ru Tan, Sze Teik Teoh   +2 more
openaire   +1 more source