46,XX Testicular Disorders of Sex Development With DMD Gene Mutation: First Case Report Identified Prenatally by Integrated Analyses in China

J Deng, H Zhang, C Li, H Huang, S Liu, H Yang… - Frontiers in …, 2020 - frontiersin.org
study describes the first prenatally diagnosed 46,XX testicular disorders of sex development
(46,XX testicular DSD) case with DMD gene mutation by integrated analyses in a Chinese …

Testicular architecture of men with 46, XX testicular Disorders of Sex Development

M Hiort, J Rohayem, R Knaf, S Laurentino… - … Development, 2023 - karger.com
… In this study, we compared rare histological samples of 46,XX TDSD to men with KS, as they
are also presenting two X chromosomes. Furthermore, we chose men with AZF deletions as …

[HTML][HTML] Disorders of sexual development in 46, XX individuals: an update

M Guerra, C Céspedes, C Forero… - Revista mexicana de …, 2021 - scielo.org.mx
… gene RSP01 have been associated with 46,XX testicular DSD, along with … 46,XX ovotesticular
DSD and 46,XX testicular DSD. These findings indicate the possibility that these disorders

Contribution of cytogenetic and molecular biology in disorders of sex development diagnosis: About 55 cases

FD Gueye, DIA Fatimatou, A Ndiaye… - … and Molecular …, 2023 - academicjournals.org
… In this context, we aim to identify and classify through genetic analysis (cytogenetic and
molecular techniques) the DSDs faced in Laboratory of Clinical Cytology - Cytogenetic - …

[PDF][PDF] SRY-Positive 46XX Testicular Disorder of Sex Development as a Rare Cause of Male Hypergonadotropic Hypogonadism: A Case Report

EH Hipogonadizmin… - Turk J Endocrinol …, 2021 - endocrinolrespract.org
sexual characteristics and sexual desire. In this report, we aimed to document a case of 46XX
testicular … Two males with SRYpositive 46,XX testicular disorder of sex development. Syst …

Diagnosis and management of non-CAH 46, XX disorders/differences in sex development

Z Yavas Abalı, T Guran - Frontiers in Endocrinology, 2024 - frontiersin.org
… leads to abnormal sexual development in 46,XX individuals. … cause of 46,XX disorders/differences
in sex development (… , comprising >90% of 46,XX DSD cases. Deficiencies of 11β-…

Testicular differentiation in 46, XX DSD: an overview of genetic causes

MTM Ferrari, ESN Silva, MY Nishi, RL Batista… - Frontiers in …, 2024 - frontiersin.org
development. Two rare conditions are associated with disruptions in ovarian determination,
including 46,XX testicular differences in sexsex determination guide the development of sex-…

Cytogenetic spectrum of ovotesticular difference of sex development (OT DSD) among a large cohort of DSD patients and literature review

MK Mekkawy, AK Kamel, N Dessouky… - … development, 2020 - karger.com
… In conclusion, the current study revealed a variable cytogenetic pattern among OT DSD
patients with a greater percentage of sex chromosomal aberrations and mosaic cell line …

SRY‐negative 46,XX testicular/ovotesticular DSD: Long‐term outcomes and early blockade of gonadotropic axis

S Lambert, M Peycelon… - Clinical …, 2021 - Wiley Online Library
… SRY-negative 46,XX testicular and ovotesticular disorders/differences of sex development
(T/… We report the first study of a cohort of 46,XX-SRY-negative patients, with a description of …

A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes

A Ata, S Özen, H Onay, S Uzun, D Gökşen… - … journal of medical …, 2021 - Elsevier
… based on karyotype: 46 XX DSD, 46 XY DSD and sex chromosome DSD. In our study we
classified … The aim of this retrospective study was to document the clinical aspects and genetic …