Results 101 to 110 of about 56,903 (162)

FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination. [PDF]

Clin Genet, 2023
Croft B, Bird AD, Ono M, Eggers S, Bagheri-Fam S, Ryan JM, Reyes AP, van den Bergen J, Baxendale A, Thompson EM, Kueh AJ, Stanton P, Thomas T, Sinclair AH, Harley VR.   +14 more
europepmc   +1 more source

Identification of a novel MAP3K1 variant in a family with 46, XY DSD and partial growth hormone deficiency. [PDF]

Mol Med Rep, 2022
Cheng Y, Xu C, Yang J, Zhou X, Chen N.
europepmc   +1 more source

45,X/46,XY gonadal dysgenesis, 46,XX/46,XY chimerism (and variants), and 46,XX testicular and ovotesticular DSD

, 2019
45,X/46,XY gonadal dysgenesis occurs in around 1.5/10,000 conceptions. The clinical phenotype is highly variable; and features of Turner syndrome may be found to a variable extent in both males and females with this condition.
Cools, Martine, Martine Cools
core   +1 more source

Identification and functional analysis of a rare variant of gene DHX37 in a patient with 46,XY disorders of sex development

Molecular Genetics & Genomic Medicine
Background 46,XY sex reversal 11 (SRXY11) [OMIM#273250] is characterized by genital ambiguity that may range from mild male genital defects to gonadal sex reversal in severe cases.
Wei Jiang, Jing Yu, Yu Mao, Yunman Tang, Li Cao, Qin Du, Jianan Li, Jiyun Yang   +7 more
doaj   +1 more source

Genital Ambiguity in a 46, XY individual : a Rare Case

Andalas Obstetrics and Gynecology Journal
Introduction: Ambiguous genitalia/disorders of sexual development (DSD) is a disorder of sexual development that is atypical chromosomally, gonadally and anatomically, which is generally characterized by the presence of unclear external genitalia, which ...
Zata Yuda Amaniko, Haviz Yuad
doaj   +1 more source

Exonic WT1 pathogenic variants in 46,XY DSD associated with gonadoblastoma. [PDF]

Endocr Connect, 2021
Arya S, Kumar S, Lila AR, Sarathi V, Memon SS, Barnabas R, Thakkar H, Patil VA, Shah NS, Bandgar TR.   +9 more
europepmc   +1 more source

Yolk sac tumor and dysgerminoma in the left gonad following gonadoblastoma in the right gonad in a 46,XY DSD with a novel SRY missense mutation: a case report. [PDF]

BMC Pregnancy Childbirth, 2023
Xie C, Cai J, Li N, Hua P, Yang Z, Yu X, Tang D, Hu Y, Liu Q.   +8 more
europepmc   +1 more source

Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).

, 2015
International audienceDisorders of Sex Development (DSD) are a heterogeneous group of disorders affecting gonad and/or genito-urinary tract development and usually the endocrine-reproductive system. A genetic diagnosis is made in only around 20% of these
Sandra Chantot‐Bastaraud, Sandra Rojo, Radu Harbuz, Matthieu Peycelon, Nicolas Perrot, Perrot, Nicolas, Piguel, Xavier, Hyon, Capucine, Chantot-Bastaraud, Sandra, Mcelreavey, Ken, Bhouri, Rakia, Peycelon, Matthieu, Bashamboo, Anu, Sibony, Mathilde, Rojo, Sandra, Harbuz, Radu, Capucine Hyon, Xavier Piguel, Gilbert-Dussardier, Brigitte, Frederic Bilan, Brigitte Gilbert‐Dussardier, Bilan, Frederic, Alain Kitzis, Mathilde Sibony, Kitzis, Alain, Rakia Bhouri, Anu Bashamboo, Ken McElreavey, Jean‐Pierre Siffroi, Siffroi, Jean-Pierre   +29 more
core   +1 more source

Metastatic dysgerminoma in a young patient with 46 XY DSD: A rare case report. [PDF]

Gynecol Oncol Rep, 2021
Thakur S, Saha SC, Sikka P, Das CK, Arpitha K, Thakur UK.   +5 more
europepmc   +1 more source

XY DISORDER OF SEXUAL DEVELOPMENT (DSD)/HYPOSPADIAS IN A EUROPEAN CAT

, 2018
An intersex is an individual in whom it is difficult to attribute sex showing one or more anatomical features of both sexes. In literature, there are different nomenclatures and classifications but they have historically been improved when sex ...
Gabriele Marino, GARUFI, GIUSEPPE, Alessandra Sfacteria, Porpora Barbara, Daniela Malara, Martina Lentini   +5 more
core   +1 more source