Results 51 to 60 of about 9,016 (186)

Imaging Evaluation of Disorders of Sex Development

Journal of Gastrointestinal and Abdominal Radiology, 2020
Disorders of sex development (DSD) refer to congenital conditions with a typical development of chromosomal, gonadal, or anatomic sex. In the revised classification of DSD, there are three categories based on karyotype: 46,XX DSD; 46,XY DSD; and sex ...
Anu Eapen, Anuradha Chandramohan, Betty Simon, Tharani Putta, Reetu John, Aruna Kekre   +5 more
doaj   +1 more source

Variability in Sex Assignment at Birth and Etiological Diagnosis of Differences of Sex Development: A Ten-Year Institutional Experience from Assam

Indian Journal of Endocrinology and Metabolism
Introduction: Differences of sex development (DSD) also known as disorders of sex development encompass a wide spectrum of conditions with varying clinical presentations across different age groups. This study aims to analyse various aetiologies of DSD
Praveen Nagarajaiah, Ashok K Bhuyan, Abhamoni Baro, Uma K Saikia   +3 more
doaj   +1 more source

A Korean boy with 46,XX testicular disorder of sex development caused bySOX9duplication [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2014
The 46,XX testicular disorder of sex development (DSD), also known as 46,XX male syndrome, is a rare form of DSD and clinical phenotype shows complete sex reversal from female to male. The sex-determining region Y (SRY) gene can be identified in most 46,XX testicular DSD patients; however, approximately 20% of patients with 46,XX testicular DSD are SRY-
Lee, Gyung Min, Ko, Jung Min, Shin, Choong Ho, Yang, Sei Won   +3 more
openaire   +2 more sources

Sex determination and disorders of sex development according to the revised nomenclature and classification in 46,XX individuals

Hormones, 2010
There have been considerable advances concerning understanding of the early and later stages of ovarian development; a number of genes have been implicated and their mutations have been associated with developmental abnormalities. The most important genes controlling the initial phase of gonadal development, identical in females and males, are Wilms ...
Eleni, Kousta, Asteroula, Papathanasiou, Nicos, Skordis   +2 more
openaire   +2 more sources

Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene

JCRPE, 2020
Aromatase deficiency rarely causes a 46,XX sexual differentiation disorder. The CYP19A1 gene encodes the aromatase enzyme which catalyses the conversion of androgens to oestrogens.
Samim Özen, Tahir Atik, Özlem Korkmaz, Hüseyin Onay, Damla Gökşen, Ferda Özkınay, Özgür Çoğulu, Şükran Darcan   +7 more
doaj   +1 more source

Unravelling complex mosaicism of sex chromosomes in a patient with primary amenorrhea through cytogenetic analysis on urothelial cells

Taiwanese Journal of Obstetrics & Gynecology, 2021
Objective: Sex chromosome mosaicism remains challenging in the study of disorders of sex development (DSD). Aneuploid cells in the developing gonad play a major role in sex determination. Therefore, it is necessary acknowledge their presence by different
Rosalba Sevilla-Montoya, Maria de Jesus Zavaleta-Abreu, Gloria Queipo, Silvia Sanchez, Sara Frias, Alberto Hidalgo-Bravo, Patricia Grether-González   +6 more
doaj   +1 more source

The epidemiology of disorders of sex development [PDF]

During recent years the epidemiology of disorders of sex development (DSD) has been more clearly delineated. Here, we provide a detailed and up-to-date synopsis of the epidemiology of DSD, incorporating the latest body of knowledge in the field for sex ...
Lind-Holst, Marie, Stochholm, Kirstine, Chang, Simon, Gravholt, Claus Højbjerg, Berglund, Agnethe   +4 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

Disorders of sex development: A 10 years experience with 73 cases from the Kashmir Valley

Indian Journal of Endocrinology and Metabolism, 2019
Purpose: To present the clinical data, investigative profile, and management of patients with disorders of sex development (DSD) from the endocrine unit of a tertiary care university hospital.
Raiz Ahmad Misgar, Moomin Hussain Bhat, Shariq Rashid Masoodi, Mir Iftikhar Bashir, Arshad Iqbal Wani, Aejaz Ahsan Baba, Gowhar Nazir Mufti   +6 more
doaj   +1 more source

Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease. [PDF]

, 2019
Disorders/differences of sex development (DSD) are the result of a discordance between chromosomal, gonadal, and genital sex. DSD may be due to mutations in any of the genes involved in sex determination and development in general, as well as gonadal and/
Audí, Laura, Sauter, Kay-Sara, Flueck, Christa E., Esteva, Isabel, Fluck, Christa E, Martínez de la Piscina Martín, Idoia, Fernández-Cancio, Mónica, Martinez de LaPiscina, Idoia, Audí Parera, Laura, Camats Tarruella, Nuria, Castaño, Luis, Flück, Christa E., Castaño González, Luis Antonio, Sauter, Kay Sara, Martinez-de-La-Piscina, Idoia, Camats, Núria, Fernández Cancio, Mónica, Universitat Autònoma de Barcelona   +17 more
core   +1 more source