Results 21 to 30 of about 971 (183)

An approach to the management and care of an individual with 46, XX ovotesticular disorder of sexual differentiation

Philippine Journal of Obstetrics and Gynecology, 2023
Ovotesticular disorder of sexual differentiation (OT-DSD) is a rare condition defined by the presence of both testicular and ovarian elements in the same individual.
Maria Angela B. de Castro-Abesamis, Mikaela Erlinda G. Martinez-Bucu   +1 more
doaj   +1 more source

Disorders of Sexual Development-Pathological Profile of 45 Cases at a Tertiary Care Centre [PDF]

Journal of Clinical and Diagnostic Research, 2022
Disorders of Sexual Development (DSD) are rare syndromes, which show congenital discordance between chromosomal, gonadal and phenotypic sex. A retrospective analysis was performed to analyse the histopathological profile and spectrum of a large number of
Gwendolyn Fernandes, Pooja Mhashete, Minal Desale   +2 more
doaj   +1 more source

Clinical, etiological and laboratory profile of children with disorders of sexual development (dsd)-experience from a tertiary pediatric endocrine unit in western India

Indian Journal of Endocrinology and Metabolism, 2021
Objectives: To present the clinical profile, diagnostic work-up, and management of children with Disorders of Sexual Development (DSD).Materials and Methods: A retrospective study from a tertiary pediatric endocrine unit of western India.
Rahul Jahagirdar, Vaman Khadilkar, Ruma Deshpande, Nikhil Lohiya   +3 more
doaj   +1 more source

Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development

Biomolecules, 2023
Gonadal development is the first step in human reproduction. Aberrant gonadal development during the fetal period is a major cause of disorders/differences of sex development (DSD).
Atsushi Hattori, Maki Fukami
doaj   +1 more source

Distinctively Different Phenotypes of Two Cases with a Rare Karyotype of 45,X/47,XYY Mosaicism: Case Report and Literature Review

Journal of Pediatric Research, 2022
The 45,X/47,XYY mosaicism is an extremely rare genetic disorder with highly phenotypic manifestations such as ovotesticular disorders of sexual development, mixed gonadal dysgenesis and Turner syndrome.
Özge Köprülü, Sezer Acar, Kadri Murat Erdoğan, Özlem Nalbantoğlu, Tarık Kırkgöz, Gülçin Arslan, Beyhan Özkaya, Yaşar Bekir Kutbay, Behzat Özkan   +8 more
doaj   +1 more source

Ovotesticular disorder of sex development with unusual karyotype: patient report [PDF]

Journal of Pediatric Endocrinology and Metabolism, 2014
Abstract Background: Ovotesticular disorder of sex development (OT-DSD) (true hermaphroditism) is an anatomopathological diagnosis based on the findings of testicular and ovarian tissues in the same subject, in the same gonad (ovotestis), or in separate gonads.
Georgette Beatriz, Paula, Juliana Gabriel, Ribeiro Andrade, Guilherme, Guaragna-Filho, Letícia Esposito, Sewaybricker, Márcio Lopes, Miranda, Andréa Trevas, Maciel-Guerra, Gil, Guerra-Júnior   +6 more
  +6 more sources

Dermatologic care of patients with differences of sex development

International Journal of Women's Dermatology, 2023
Background:. Differences of sex development (DSD or disorders of sex development) are uncommon congenital conditions, characterized by atypical development of chromosomal, gonadal, or anatomic sex. Objective:.
Sarah Gold, BA, Christina Huang, BS, Rakan Radi, MD, Pranav Gupta, MBBS, Eric I. Felner, MD, MS, Jeehea Sonya Haw, MD, Krista Childress, MD, Nancy Sokkary, MD, Vin Tangpricha, MD, PhD, Michael Goodman, MD, MPH, Howa Yeung, MD, MSc   +10 more
doaj   +1 more source

Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis

Acta Obstetricia et Gynecologica Scandinavica, Volume 102, Issue 8, Page 1053-1062, August 2023., 2023
Optical genome mapping reached 97.8% concordant clinical diagnosis with standard‐of‐care methods for all chromosomal aberrations by a singular testing platform, suggesting that optical genome mapping has the potential to become a promising cytogenetic tool for prenatal diagnosis.
Qinxin Zhang, Yan Wang, Yiyun Xu, Ran Zhou, Mingtao Huang, Fengchang Qiao, Lulu Meng, An Liu, Jing Zhou, Li Li, Xiuqing Ji, Zhengfeng Xu, Ping Hu   +12 more
wiley   +1 more source

Prenatal management of disorders of Sex development [PDF]

, 2012
Disorders of sex development (DSD) rarely present prenatally but, as they are very complex conditions, management should be directed by highly specialised medical teams to allow consideration of all aspects of diagnosis, treatment and ethical issues.
Aigrain, Y. (Yves), Chatelain, P. (Pierre), Chitty, L. (Lyn), Wolffenbuttel, K.P. (Katja)   +3 more
core   +9 more sources

46, XY Complete Gonadal Dysgenesis (Swyer Syndrome) Presenting as Primary Amenorrhea in a Normomorphic Adult Female From Kakamega, Kenya. [PDF]

Clin Case Rep
ABSTRACT Differences/disorders of sex development (DSDs) are a diverse group of congenital conditions that result in disagreement between an individual's sex chromosomes, gonads, and/or anatomical sex. The 46, XY DSD group is vast and includes various conditions caused by genetic variants, hormonal imbalances, or abnormal sensitivity to testicular ...
Omoaghe C.
europepmc   +2 more sources