Results 41 to 50 of about 1,116,925 (160)

Novel compound heterozygous mutations in the desert hedgehog (DHH) gene in cases of siblings with 46,XY disorders of sexual development

BMC Medical Genomics, 2022
Background Disorders of sex development (DSD) are congenital disorders in which the development of the chromosomal, gonadal, or anatomical sex is atypical.
Jia Wei, Jiaqi Wu, Wei Ru, Guangjie Chen, Lei Gao, Daxing Tang   +5 more
doaj   +1 more source

Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1 [PDF]

, 2015
Disorders of sex development (DSDs) encompass a broad spectrum of conditions affecting the development of the gonads and genitalia. The underlying causes for DSDs include gain or loss of function variants in genes responsible for gonad development or ...
Bahlo, M. (Melanie), Drop, S.L.S. (Stenvert), Eggers, S. (Stefanie), Faradz, S.M.H. (Sultana), Harley, V.R. (Vincent), Juniarto, A.Z. (Achmad), Koopman, P. (Peter), Looijenga, L.H.J. (Leendert), Sinclair, A. (Andrew), Smith, K.R. (Ken Robert)   +9 more
core   +1 more source

Analysis in the influence factors of urethroplasty in DSD

BMC Urology, 2022
Background At present, there is no specific research on the factors affecting the success rate of urethroplasty in patients with DSD. The purpose of this study is to explore the factors affecting the success of urethroplasty in DSD patients, and to ...
Jing Yu, Ning Sun, Hongcheng Song, Minglei Li, Lele Li, Chunxiu Gong, Weiping Zhang   +6 more
doaj   +1 more source

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development [PDF]

, 2011
Disorders of sex development (DSD) are congenital conditions where chromosomal, gonad or genital development is atypical. In a significant proportion of 46,XY DSD cases it is not possible to identify a causative mutation, making genetic counseling ...
AJ Notini, AJ Paige, AK Bednarek, Andrew Sinclair, D Wilhelm, DM Maatouk, E Sutton, Erin Turbitt, H Stoop, Jacqueline Hewitt, JH Ludes-Meyers, Leendert Looijenga, LH Looijenga, M Cools, M Cools, Martine Cools, MI Nunez, N Bouteille, PA Lee, Peter Koopman, R Hersmus, Remko Hersmus, RI Aqeilan, RI Aqeilan, RI Aqeilan, RI Aqeilan, S Del Mare, SJ White, SJ White, Stefan White, Stenvert Drop, Vincent Harley, Yvonne van der Zwan   +32 more
core   +1 more source

Ambiguous Genitalia

Medical Journal of Dr. D.Y. Patil Vidyapeeth
Assignment of gender to the newborn baby is a crucial action to be performed at birth. This is easy in most cases as a baby’s external genitalia correspond to either male or female appearance.
Shilpa Kshirsagar, Sukesh Kathpalia
doaj   +1 more source

Identifying infrequent genetic changes in monozygotic twins afflicted with hypospadias via targeted panel sequencing [PDF]

Investigative and Clinical Urology
Purpose: We aimed to identify the genetic causes of hypospadias in children using targeted gene panel sequencing for disorders of sex development (DSD).
Ja Hye Kim, Kun Suk Kim, Jae Hyeon Han, Dongsu Kim, Chan Hoon Kwak, Jin-Ho Choi, Sang Hoon Song   +6 more
doaj   +1 more source

The quantification of gender: Anorexia nervosa and femininity [PDF]

, 2011
The ways in which Anorexia Nervosa (AN) has been described and explained has differed drastically over time although since it was first named in 1874 it has been primarily associated with women and girls it is argued in this paper that it came to be more
Till, C
core   +1 more source

DIFFERENTIAL DIAGNOSIS OF GENDER DYSPHORIA IN TERMS OF REPRODUCTIVE ENDOCRINOLOGY

İstanbul Tıp Fakültesi Dergisi, 2021
An increasing number of adolescents and adults present to clinics for medical assistance with gender dysphoria. The first evaluation of the patients presenting with this clinical picture with unclear etiology includes a short clinical examination to ...
Özlem Dural
doaj   +1 more source

Human sex development: targeted technologies to improve diagnosis [PDF]

, 2016
A new study of disorders of sex development presents an improved targeted next-generation sequencing approach for their ...
Achermann, JC, Buonocore, F
core   +3 more sources

A long-term follow-up of Sex Chromosomal Mosaicism Disorders of Sex Development

Journal of Biomedicine and Translational Research, 2019
Background: Chromosomal mosaicism is characterized by the presence of two or more distinct cell lines in an individual. Mosaicism in sex chromosome is a major component of Disorders of Sex Development (DSD) results in a large clinical spectrum of ...
Nurin Aisyiyah Listyasari, Iit Fitrianingrum, Sultana MH Faradz   +2 more
doaj   +1 more source