Results 1 to 10 of about 56,903 (162)

GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes [PDF]

Frontiers in Endocrinology, 2018
Disorders of sex development (DSD) consist of a wide range of conditions involving numerous genes. Nevertheless, about half of 46,XY individuals remain genetically unsolved. GATA4 gene variants, mainly related to congenital heart defects (CHD), have also
Amit V Pandey, Idoia Martinez de Lapiscina Martin, Christa E Fluck   +2 more
exaly   +7 more sources

MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency. [PDF]

PLoS ONE, 2018
BACKGROUND:MIRAGE syndrome, a congenital multisystem disorder due to pathogenic SAMD9 variants, describes a constellation of clinical features including 46,XY disorders of sex development (DSD), small for gestational age (SGA) and adrenal insufficiency ...
Hirohito Shima, Mie Hayashi, Takashi Tachibana, Makoto Oshiro, Naoko Amano, Tomohiro Ishii, Hidenori Haruna, Maki Igarashi, Masafumi Kon, Ryuji Fukuzawa, Yukichi Tanaka, Maki Fukami, Tomonobu Hasegawa, Satoshi Narumi   +13 more
doaj   +3 more sources

Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing [PDF]

Orphanet Journal of Rare Diseases, 2021
Objective To identify the pathogenic mechanism of the c.244G>T mutation in NR5A1 gene found in a Chinese patient with 46, XY disorders of sex development (DSD). Subjects and methods: Genomic DNA was extracted from a Chinese 46, XY DSD patient.
Bingqing Yu, Yinjie Gao, Jiangfeng Mao, Xi Wang, Min Nie, Xueyan Wu   +5 more
doaj   +2 more sources

A Likely Diagnosis of Familial Partial Androgen Insensitivity Syndrome in Three 46, XY Siblings With Ambiguous Genitalia: A Case Series. [PDF]

Clin Case Rep
ABSTRACT Familial partial androgen insensitivity syndrome is a rare cause of 46, XY disorder of sex development. It includes marked phenotypic variability, even among siblings. Persistent undervirilization despite normal androgen levels should prompt early multidisciplinary evaluation and counseling, especially where genetic testing is limited.
Ali T, Javaid MH, Memon SF, Memon ZF, Iqbal M, Afridi S, Soroush AR, Khan AI, Ahmad N, Afridi NA, Ali Z.   +10 more
europepmc   +2 more sources

Genetically Confirmed Osteogenesis Imperfecta (COL1A1) With Unexplained Ambiguous Genitalia in a 46,XY Child: An Index Case Report. [PDF]

Clin Case Rep
A 6‐year‐old child with a rare dual diagnosis confirmed by genetic testing ‐ osteogenesis imperfecta (blue sclerae, disproportionate short stature) and concurrent 46,XY disorder of sex development (micropenis, hypospadias, impalpable gonads). ABSTRACT Osteogenesis imperfecta (OI) is a heritable disorder of type I collagen characterized by bone ...
Agarwal H, Jha T, Azmi MO, Sarkar S, Suresh V.   +4 more
europepmc   +2 more sources

A Familial X-Linked Disorder of Sexual Development in Thoroughbred Horses Associated With a Novel Androgen Receptor Splice-Site Variant. [PDF]

Anim Genet
Animal Genetics, Volume 57, Issue 3, June 2026.
Letko A, Jagannathan V, Drögemüller C, Lühken G.   +3 more
europepmc   +2 more sources

Refining the diagnosis of 46,XY disorders of sex development: insight from whole-exome sequencing [PDF]

Orphanet Journal of Rare Diseases
Introduction Differences in sex development (DSD) with 46,XY karyotype are a group of rare congenital conditions affecting the structure and function of the urogenital system.
Ewa Błaszczyk, Małgorzata Więcek, Aleksandra Jazela-Stanek, Grzegorz Kudela, Tomasz Koszutski, Karolina Kowalczyk, Jagoda Sikora, Agnieszka Wiernik, Małgorzata Żarczyńska, Wiktoria Kempińska, Agnieszka Bielska-Brodziak, Aneta Gawlik-Starzyk   +11 more
doaj   +2 more sources

Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development

Biomolecules, 2023
Gonadal development is the first step in human reproduction. Aberrant gonadal development during the fetal period is a major cause of disorders/differences of sex development (DSD).
Atsushi Hattori, Maki Fukami
doaj   +1 more source

Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development

Reproductive Biology and Endocrinology, 2023
Background Forty-six ,XY Differences/Disorders of Sex Development (DSD) are characterized by a broad phenotypic spectrum ranging from typical female to male with undervirilized external genitalia, or more rarely testicular regression with a typical male ...
Khouloud Rjiba, Soumaya Mougou-Zerelli, Imen hadj Hamida, Ghada Saad, Bochra Khadija, Afef Jelloul, Wafa Slimani, Yosra Hasni, Sarra Dimassi, Hela Ben khelifa, Amira Sallem, Molka Kammoun, Hamza Hadj Abdallah, Moez Gribaa, Joelle Bignon-Topalovic, Sami Chelly, Hédi Khairi, Mohamed Bibi, Maha Kacem, Ali Saad, Anu Bashamboo, Kenneth McElreavey   +21 more
doaj   +1 more source

Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort

Frontiers in Genetics, 2022
In a majority of individuals with disorders/differences of sex development (DSD) a genetic etiology is often elusive. However, new genes causing DSD are routinely reported and using the unbiased genomic approaches, such as whole exome sequencing (WES ...
Housna Zidoune, Housna Zidoune, Housna Zidoune, Asmahane Ladjouze, Djalila Chellat-Rezgoune, Djalila Chellat-Rezgoune, Asma Boukri, Scheher Aman Dib, Nassim Nouri, Meryem Tebibel, Karima Sifi, Noureddine Abadi, Dalila Satta, Dalila Satta, Yasmina Benelmadani, Joelle Bignon-Topalovic, Maeva El-Zaiat-Munsch, Anu Bashamboo, Ken McElreavey   +18 more
doaj   +1 more source