Results 81 to 90 of about 1,174,652 (161)

Gene therapy for disorders of sex development: current applications and future challenges

Frontiers in Genetics
Disorders of sex development (DSD) represent a spectrum of congenital conditions where discrepancies exist between chromosomal, gonadal, or anatomical sex.
Wenyuan Peng, Qian Zhao, Jiali Chen, Huifang Peng, Hongwei Jiang   +4 more
doaj   +1 more source

Clinical Characteristics and Management of Two Cases of Complete Androgen Insensitivity Syndrome With Germ Cell Tumors

Cancer Reports, Volume 9, Issue 2, February 2026.
ABSTRACT Background Androgen insensitivity syndrome (AIS) is an X‐linked recessive genetic disorder caused by mutations in the androgen receptor (AR) gene, leading to androgen resistance and disorders of sex development (DSD) in 46, XY individuals. It is classified into three phenotypes: complete (CAIS), partial (PAIS), and mild (MAIS).
Fangming Wang, Dong Wang, Jianxing Li, Nianzeng Xing   +3 more
wiley   +1 more source

Clinical, pathological and morphometric study of ten male disgenetic pseudohermaphroditism (DSD 46,XY)

, 2010
O Pseudohermafroditismo masculino disgenético (Anomalia da diferenciação sexual 46,XY ADS 46,XY) é definido como ambigüidade genital num paciente com testículos e/ou cariótipo 46,XY com uma das seguintes características: alteração histológica testicular,
Guedes, Dulce Rondina, Dulce Rondina Guedes   +1 more
core   +1 more source

A novel CUL4B gene variant activating Wnt4/β-catenin signal pathway to karyotype 46, XY female with disorders of sex development

Biological Research
Background Karyotype 46, XY female disorders of sex development (46, XY female DSD) are congenital conditions due to irregular gonadal development or androgen synthesis or function issues.
Chunlin Wang, Hong Chen, Qingqing Chen, Yangbin Qu, Ke Yuan, Li Liang, Qingfeng Yan   +6 more
doaj   +1 more source

In-depth exploration of differences of sex development: 5-year experience in a tertiary center

Endocrine Connections
Background: Differences/disorders of sex development (DSD) encompass a wide range of conditions. Their clinical spectrum and etiological diagnosis have not been reported in Moroccan patients.
Mohamed Hssaini, Sana Abourazzak, Ihsane El Otmani, Mohamed Ahakoud, Amina Ameli, Laila Bouguenouch, Hicham Bekkari   +6 more
doaj   +1 more source

Mixed Gonadal Dysgenesis: A Comprehensive Review of Clinical Spectrum, Diagnostic Strategies, and Management Approaches

Clinical Endocrinology, Volume 104, Issue 2, Page 92-102, February 2026.
ABSTRACT Background Mixed gonadal dysgenesis (MGD) is a rare form of differences in sex development (DSD) typically associated with 45,X/46,XY mosaicism. The phenotypic presentation of MGD varies from atypical genitalia to typical male or female appearances often associated with Turner stigmata.
Dinesh Giri, Sushil Yewale, Hannah Hickingbotham, Cara Williams, Mohamed Shalaby, Julie Alderson, Julie Park   +6 more
wiley   +1 more source

46,XY DSD due to impaired androgen production

, 2010
Disorders of androgen production can occur in all steps of testosterone biosynthesis and secretion carried out by the foetal Leydig cells as well as in the conversion of testosterone into dihydrotestosterone (DHT).
MENDONCA, Berenice B., Alicia Belgorosky, BELGOROSKY, Alicia, Sorahia Domenice, RIVAROLA, Marco Aurelio, Berenice B. Mendonca, Costa, Elaine M.F., COSTA, Elaine M. F., Elaine M.F. Costa, Marco Aurelio Rivarola, DOMENICE, Sorahia   +10 more
core   +1 more source

Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development [PDF]

, 2018
Purpose: Disorders or differences of sex development (DSDs) are rare congenital conditions characterized by atypical sex development. Despite advances in genomic technologies, the molecular cause remains unknown in 50% of cases.
Elfride De Baere, De Baere, Elfride, Looijenga, Leendert H, Berenice B. Mendonca, De Cauwer, Lode, De Krijger, Ronald R., Verdin, Hannah, Tülay Güran, Verdin, H, Peelman, Frank, Vuylsteke, Marnik, ESR2 Study Group, Nathalia L. Gomes, Katleen de Preter, ESR2 study group, the, Stoop, Hans, Baetens, Dorien, Sorahia Domenice, Atay, Zeynep, Gomes, Nathalia L, Abdullah Bereket, Marnik Vuylsteke, Bereket, Abdullah, Cools, M, Peelman, F, Mendonca, Berenice B., Looijenga, Leendert H., Mendonca, Berenice B, Mendonca, BB, De Preter, Katleen, De Bosscher, Karolien, Frank Peelman, Cools, Martine, Hans Stoop, Martine Cools, Leendert H. Looijenga, De Cauwer, L, Gomes, Nathalia L., Zeynep Atay, Guran, T, Lode De Cauwer, Güran, Tülay, Dorien Baetens, Baetens, D, Linden, M, De Bosscher, K, Van Der Linden, Malaïka, Gomes, NL, Looijenga, LHJ (Leendert), Vuylsteke, M, De Baere, E, Domenice, Sorahia, Malaïka Van der Linden, Hannah Verdin, Ronald R. de Krijger, Serap Turan, Karolien De Bosscher, Turan, Serap   +57 more
core   +5 more sources

Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development

Endocrine Connections, 2018
46,XY differences and/or disorders of sex development (DSD) are clinically and genetically heterogeneous conditions. Although complete androgen insensitivity syndrome has a strong genotype–phenotype correlation, the other types of 46,XY DSD are less well
Zofia Kolesinska, James Acierno, S Faisal Ahmed, Cheng Xu, Karina Kapczuk, Anna Skorczyk-Werner, Hanna Mikos, Aleksandra Rojek, Andreas Massouras, Maciej R Krawczynski, Nelly Pitteloud, Marek Niedziela   +11 more
doaj   +1 more source

Familial 46, XY Disorder of Sexual Development identified in a Ph+BCR::ABL1P210+ Acute Lymphoblastic Leukemia septuagenarian female with RCBTB2::LPAR6 fusion gene: a case report

Frontiers in Oncology
BackgroundFamilial 46, XY Disorder of Sexual Development (DSD) was discovered in a Ph+, BCR::ABL1P210+ Acute Lymphoblastic Leukemia (ALL) female with RCBTB2::LPAR6 fusion gene. Siblings developing 46, XY DSD are extremely rare.
Lingling Wang, Conglin Xi, Xinyu Zheng, Yongfen Huang, Hao Xu, Yuqing Miao, Yuexin Cheng   +6 more
doaj   +1 more source