Results 21 to 30 of about 3,198 (197)

Gender Development in 46,XY DSD: Influences of Chromosomes, Hormones, and Interactions with Parents and Healthcare Professionals

Scientifica, 2012
Variables that impact gender development in humans are difficult to evaluate. This difficulty exists because it is not usually possible to tease apart biological influences on gender from social variables. People with disorders of sex development, or DSD,
Amy B. Wisniewski
doaj   +2 more sources

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

Endocr Connect, 2021
Objective The literature regarding gonadoblastoma risk in exonic Wilms’ tumor suppressor gene (WT1) pathogenic variants is sparse. The aim of this study is to describe the phenotypic and genotypic characteristics of Asian–Indian patients with WT1 pathogenic variants and systematically review the literature on association of exonic WT1 pathogenic ...
Arya S, Kumar S, Lila AR, Sarathi V, Memon SS, Barnabas R, Thakkar H, Patil VA, Shah NS, Bandgar TR.   +9 more
europepmc   +4 more sources

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

Gynecol Oncol Rep, 2021
The term DSD (Disorders of Sex development) is issued to define those conditions in whom disharmony exists between chromosomal, hormonal and anatomical sex. Parental and patient mental health and quality of life are adversely affected by these conditions.
Thakur S, Saha SC, Sikka P, Das CK, Arpitha K, Thakur UK.   +5 more
europepmc   +4 more sources

When to address form and when to address function: Timing of surgical reconstruction for a patient with 46 XY DSD. [PDF]

Urol Case Rep, 2023
Differences of sexual development (DSD) refers to congenital conditions characterized by discordant appearances of external genitalia with respect to sex chromosomes.
Li O, Gabrielson A, Wang MH.
europepmc   +2 more sources

5-Alpha reductase deficiency; an important cause of 46, XY DSD: Report of three cases within a family. [PDF]

Clin Case Rep, 2023
Key clinical message 5‐Alpha reductase deficiency is an important cause of 46, XY disorder of sex development. Timely diagnosis and proper management by a multidisciplinary team can lead to a favorable outcome.
Noroozi Asl S, Ibrahimi R, Bagheri S, Lotfi M.   +3 more
europepmc   +2 more sources

Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD [PDF]

J Clin Res Pediatr Endocrinol, 2022
OBJECTIVE: Androgen insensivity syndrome (AIS) and 5α-reductase deficiency (5α-RD) present with indistinguishable phenotypes among the 46,XY disorders of sexual development (DSD) that usually necessitate molecular analyses for the definitive diagnosis in
Akcan N, Uyguner O, Baş F, Altunoğlu U, Toksoy G, Karaman B, Avcı Ş, Yavaş Abalı Z, Poyrazoğlu Ş, Aghayev A, Karaman V, Bundak R, Başaran S, Darendeliler F.   +13 more
europepmc   +2 more sources

Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1. [PDF]

Int J Mol Sci, 2020
Variants of NR5A1 are often found in individuals with 46,XY disorders of sex development (DSD) and manifest with a very broad spectrum of clinical characteristics and variable sex hormone levels.
Martínez de LaPiscina I, Mahmoud RA, Sauter KS, Esteva I, Alonso M, Costa I, Rial-Rodriguez JM, Rodríguez-Estévez A, Vela A, Castano L, Flück CE.   +10 more
europepmc   +2 more sources

A Novel NR5A1 Mutation in a Thai Boy with 46, XY DSD. [PDF]

J Pediatr Genet, 2023
AbstractDisorders of sex development (DSD) can be classified as 46,XX DSD, 46,XY DSD, and sex chromosome DSD. Several underlying causes including associated genes have been reported. Steroidogenic factor-1 is encoded by the NR5A1 gene, a crucial regulator of steroidogenesis in the growth of the adrenal and gonadal tissues.
Wacharasindhu S, Ittiwut C, Ittiwut R, Aroonparkmongkol S, Suphapeetiporn K.   +4 more
europepmc   +3 more sources

Gesundheitszustand von Individuen mit männlichem Karyotyp und einer Variante der Geschlechtsentwicklung (46,XY DSD) [PDF]

, 2021
Unter Störungen, Unterschiede oder Varianten der Geschlechtsentwicklung (DSD) werden Diagnosen zusammengefasst, bei denen die Betroffenen nicht oder nur teilweise die typische weibliche oder männliche Geschlechtsentwicklung durchlaufen. Es werden drei
Gong, Xin Li
core   +1 more source

An Infant With <i>DHX37</i> Variant: A Novel Etiology of 46,XY DSD and Literature Review. [PDF]

JCEM Case Rep
Abstract 46,XY sex reversal 11 (SRXY11) is a rare and recently identified form of 46,XY difference in sexual development (DSD), caused by variants in the DEAH-Box Helicase 37 gene (DHX37). DHX37 is crucial for ribosome biogenesis, but its specific role in gonadal development remains unclear.
Turk Yilmaz RS, Hittelman AB, Vash-Margita A, Dinauer C, Weinzimer SA, Gujral J.   +5 more
europepmc   +3 more sources