Results 121 to 130 of about 3,198 (197)

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

46,XY DSD WITH RETAINED MÜLLERIAN STRUCTURES AND GENDER TRANSITION IN ADULTHOOD

Journal of the ASEAN Federation of Endocrine Societies
INTRODUCTION/BACKGROUNDDisorders of Sex Development (DSD) are congenital conditions marked by atypical chromosomal, gonadal, or anatomical sex development. A structured diagnostic approach—starting from phenotype assessment through to chromosomal and molecular studies—is essential, particularly in 46,XY DSD where clinical presentations may vary widely.
Sarah Firdausa, Jerry Nasarudin, Nur Rusyda Kuddah, Wismandari Wisnu, Em Yunir   +4 more
openaire   +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

Androgen insensitivity syndrome in a cohort of Sri Lankan children with 46, XY disorders of sex development (46, XY DSD).

The Ceylon medical journal, 2016
There are several conditions giving rise to 46, XY disorders of sex development (DSD) with different modes of inheritance. Therefore definitive diagnosis based on molecular genetic confirmation would be the ideal to counsel parents regarding the future implications of the condition affecting their baby.
K S H, de Silva, N D, Sirisena, H K, Wijenayaka, J G, Cooray, R W, Jayasekara, V H W, Dissanayake   +5 more
openaire   +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

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals [PDF]

, 2016
Steroidogenic factor 1 (NR5A1, SF-1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development ...
Machado, AZ, Mendonca, BB, Gomes, NL, Montenegro, LR, Nishi, MY, Lin, L, da Silva, TE, Frade Costa, EM, Domenice, S, Achermann, JC, Correa, RV, Silva, RB, Ferreira, FM, Ferraz-de-Souza, B, Narciso, A, Lerario, AM   +15 more
core  

Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias.

, 2011
BACKGROUND: Mutations of the NR5A1 gene encoding steroidogenic factor-1 have been reported in association with a wide spectrum of 46,XY DSD (Disorder of Sex Development) phenotypes including severe forms of hypospadias. METHODOLOGY/PRINCIPAL FINDINGS: We
De Dreuzy Olivier, Brauner Raja, Nihoul-Fékété Claire, Henri Lottmann, Muller Jean-Baptiste, Lottmann Henri, Boudjenah Radia, McElreavey Ken, Jean-Baptiste Muller, Olivier De Dreuzy, Lourenço Diana, Raja Brauner, Diana Lourenço, Trivin Christine, Allali Slimane, Slimane Allali, Radia Boudjenah, Anu Bashamboo, Christine Trivin, Ken McElreavey, Bashamboo Anu, Lortat-Jacob Stephen, Stephen Lortat-Jacob, Claire Nihoul-Fékété, Karageorgou Vasiliki, Vasiliki Karageorgou   +25 more
core   +1 more source

Ultrasonography for disorders of sex development in pediatrics

Frontiers in Pediatrics
ObjectiveThis study aimed to evaluate the clinical value of ultrasonography in the management of disorders of sex development (DSDs).MethodsUltrasonographic appearance and clinical data of 82 cases with DSD were reviewed retrospectively.ResultsIn total ...
Yuting Wu, Anqi Tao, Jigang Jing, Hua Zhuang   +3 more
doaj   +1 more source

Clinicoepidemiological Profile of Disorders of Sex Development Presenting to a Tertiary Care Center: A Descriptive Observational Study

Journal of Indian Association of Pediatric Surgeons
Background and Objective: The prevalence of disorders of sex development (DSD) is estimated to affect approximately 1 in 4500–5500 newborns, yet there is a dearth of studies, particularly in Central India, on this topic.
Sujeet Kumar Pandre, Pramod Kumar Sharma, Roshan Chanchlani, Mahesh Maheshwari, Suresh Kumar Thanneeru, Reyaz Ahmad   +5 more
doaj   +1 more source

Correction to: One hundred twelve cases of 46, XY DSD patients after initial gender assignment: a short-term survey of gender role and gender dysphoria. [PDF]

Orphanet J Rare Dis, 2022
Hou L, Zhao M, Fan L, Cao B, Chen J, Cui Y, Polak M, Gong C.   +7 more
europepmc   +1 more source