[HTML][HTML] Sex Reversal Syndrome (SRS): A Case of SRY-Positive 46, XX Testicular Disorder

K Shil, T Ferdousi, T Haq… - Journal of the ASEAN …, 2023 - ncbi.nlm.nih.gov
We report a case of an SRY-positive 46, XX Indian male who presented with small testis and
phallus, poor beard and mustache development and gynecomastia at the age of 24 years …

Pregnancies with positive non-invasive prenatal testing result for sex chromosome abnormalities in a tertiary hospital in Hong Kong

PL So, S Lai, PP Wong, K Siong, HK Leung… - Hong Kong Journal of …, 2022 - hkjgom.org
Objective: To review medical records of pregnant women with positive non-invasive prenatal
testing (NIPT) results for sex chromosome abnormalities who attended Tuen Mun hospital …

An Interesting Case of Hypogonadism: Workup in a Phenotypic Male Reveals XX Genotype

T Sharma, A Mehta - JCEM Case Reports, 2023 - academic.oup.com
We present a patient case referred for evaluation of male hypogonadism with gynecomastia.
On examination, he was noted to have microtestis, shorter than expected height, and …

Management of boys and men with disorders of sex development

SF Ahmed, S O'Toole - Current Opinion in Endocrinology …, 2012 - journals.lww.com
Management of boys and men with disorders of sex development : Current Opinion in
Endocrinology, Diabetes and Obesity Management of boys and men with disorders of sex …

[引用][C] Genetic and semen examination of patients with 46, XX testicular disorder of sex development

MI Shtaut, TM Sorokina, LF Kurilo, MV Andreeva… - Andrology and Genital …, 2023

Caracterización citogenética y molecular en tejido gonadal de pacientes con síndrome ovotesticular y disgenesia gonadal 46, XY y 46, XX

MC Manotas, M García-Acero, D González… - Revista Mexicana de …, 2021 - medigraphic.com
Objetivos: La etiología de la disgenesia gonadal y el síndrome ovotesticular se desconoce
en la mayoría de los casos. Para realizar la caracterización citogenética y molecular de un …

Cytogenetic and molecular characterization in gonadal tissue of patients with ovotesticular syndrome and gonadal dysgenesis 46, XY and 46, XX

MC Manotas, M García-Acero, D González… - Revista mexicana de …, 2021 - scielo.org.mx
Objectives: The etiology of gonadal dysgenesis and ovotesticular syndrome is unknown in a
majority of cases. The aim of the study was to perform cytogenetic and molecular …

46, XX testicular disorders of sex development SRY-negative in a 25-year-old man, associated to a microprolactinoma: Le syndrome de la Chapelle associé à un …

EM Claude, G Lemdjo, FM Mekobe… - HEALTH SCIENCES …, 2022 - hsd-fmsb.org
RÉSUMÉ Le syndrome de La Chapelle est une anomalie du développement testiculaire
associée à un caryotype 46, XX. La clinique est variable allant d'un phénotype masculin …

46, XX male disorder of sexual development

C Flannery, A Agha - 2022 - repository.rcsi.com
Presentation A 47-year-old male was referred to endocrinology with a 9-year history of
primary hypogonadism. Baseline testosterone was 4.3 nmol/L (RR 8-30) with an elevated …

[PDF][PDF] Genetics of Disorders of Sexual Development

JJ Chew - Laboratory of Professor Vincent Harley, Prince Henry's … - monash.edu
Gonadal differentiation is the first step of mammalian sex determination (1, 2). In mammals,
male sex determination is governed by SRY-dependent activation of SOX9, whereas female …