Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD): recommendations from the COST action …

C Flück, A Nordenström, SF Ahmed… - European journal of …, 2019 - academic.oup.com
The treatment and care of individuals who have a difference of sex development (DSD) have
been revised over the past two decades and new guidelines have been published. In order …

Anthropometric and Pubertal Outcomes in Girls With Classical Congenital Adrenal Hyperplasia

J Kaur, M Singla, A Bhansali, S Bhadada, R Walia - Indian Pediatrics, 2022 - Springer
Objective To evaluate the anthropometric and pubertal outcomes, over a spectrum of
treatment regimens and compliance. Methods We reviewed records of the patients with …

Research on quality of life in female patients with congenital adrenal hyperplasia and issues in developing nations

AA Zainuddin, SR Grover, K Shamsuddin… - Journal of pediatric and …, 2013 - Elsevier
Congenital adrenal hyperplasia (CAH) is the commonest cause of ambiguous genitalia for
female newborns and is one of the conditions under the umbrella term of “Disorders of Sex …

Congenital adrenal hyperplasia in Alexandria, Egypt: a high prevalence justifying the need for a community-based newborn screening program

SM Tayel, H Ismael, H Kandil… - Journal of tropical …, 2011 - academic.oup.com
Many neonatal screening programs for congenital adrenal hyperplasia (CAH) have been
implemented worldwide to detect newborns at risk of salt wasting crisis and prevent incorrect …

[引用][C] Ambiguous genitalia and review of the cases

MR Azar, S Delshad, M Solaimani, M Nourbakhsh… - Genetics in the 3rd …, 2007

The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD) III) Biochemical and genetic markers in the 46, XYIV) Proposals …

ML Granada, L Audí - Advances in Laboratory Medicine/Avances en …, 2021 - degruyter.com
Objectives 46, XY differences/disorders of sex development (DSD) involve an abnormal
gonadal and/or genital (external and/or internal) development caused by lack or incomplete …

Diagnostic approach in 46, XY DSD: an endocrine society of bengal (ESB) consensus statement

A Baidya, AK Basu, R Bhattacharjee… - Journal of Pediatric …, 2023 - degruyter.com
Objectives 46, XY difference/disorder of sex development (DSD) is a relatively uncommon
group of heterogeneous disorders with varying degree of underandrogenization of male …

Challenges in managing disorders of sex development associated with adrenal dysfunction

GP Finkielstain, RA Rey - Expert Review of Endocrinology & …, 2023 - Taylor & Francis
ABSTRACT Introduction Disorders of Sex Development (DSD) associated with adrenal
dysfunction occur due to different defects in the proteins involved in gonadal and adrenal …

Management of infants born with disorders/differences of sex development

I Majumdar, T Mazur - Pediatric Endocrinology: A Practical Clinical Guide, 2018 - Springer
Disorders of sex development (DSD) replaced the terms intersex, hermaphroditism,
pseudohermaphroditism, sex errors of the body, and ambiguous genitalia in 2006; however …

So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity

RL de Omena Filho, RJ Petroli, FC Soardi… - Italian Journal of …, 2022 - Springer
Abstract Background The Congenital Adrenal Hyperplasia due to 21 hydroxylase deficiency
is the most common cause of genital ambiguity in persons with XX sexual chromosomes …