Global disorders of sex development update since 2006: perceptions, approach and care
PA Lee, A Nordenström, CP Houk, SF Ahmed… - Hormone research in …, 2016 - karger.com
The goal of this update regarding the diagnosis and care of persons with disorders of sex
development (DSDs) is to address changes in the clinical approach since the 2005 …
development (DSDs) is to address changes in the clinical approach since the 2005 …
Congenital adrenal hyperplasia—current insights in pathophysiology, diagnostics, and management
HL Claahsen-van der Grinten, PW Speiser… - Endocrine …, 2022 - academic.oup.com
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting
cortisol biosynthesis. Reduced activity of an enzyme required for cortisol production leads to …
cortisol biosynthesis. Reduced activity of an enzyme required for cortisol production leads to …
[HTML][HTML] Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement
G Mantovani, M Bastepe, D Monk… - Nature Reviews …, 2018 - nature.com
Abstract This Consensus Statement covers recommendations for the diagnosis and
management of patients with pseudohypoparathyroidism (PHP) and related disorders …
management of patients with pseudohypoparathyroidism (PHP) and related disorders …
Consensus statement on management of intersex disorders
The birth of an intersex child prompts a long-term management strategy that involves a
myriad of professionals working with the family. There has been progress in diagnosis …
myriad of professionals working with the family. There has been progress in diagnosis …
Consensus statement on management of intersex disorders
PA Lee, CP Houk, SF Ahmed, IA Hughes… - …, 2006 - publications.aap.org
THE BIRTH of an intersex child prompts a long-term management strategy that involves
myriad professionals working with the family. There has been progress in diagnosis, surgical …
myriad professionals working with the family. There has been progress in diagnosis, surgical …
PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome
DJ Marsh, JB Kum, KL Lunetta… - Human molecular …, 1999 - academic.oup.com
Germline mutations in the tumour suppressor gene PTEN have been implicated in two
hamartoma syndromes that exhibit some clinical overlap, Cowden syndrome (CS) and …
hamartoma syndromes that exhibit some clinical overlap, Cowden syndrome (CS) and …
Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome
SF Ahmed, A Cheng, L Dovey… - The Journal of …, 2000 - academic.oup.com
Androgen insensitivity syndrome (AIS) is the most common single entity that results in male
under-masculinization, but large cohort studies of AIS have rarely been performed. Over the …
under-masculinization, but large cohort studies of AIS have rarely been performed. Over the …
Psychological outcomes and gender-related development in complete androgen insensitivity syndrome
We evaluated psychological outcomes and gender development in 22 women with complete
androgen insensitivity syndrome (CAIS). Participants were recruited through a medical …
androgen insensitivity syndrome (CAIS). Participants were recruited through a medical …
The role of a clinical score in the assessment of ambiguous genitalia
Objective To improve the initial assessment of ambiguous genitalia in infants. Subjects and
methods Using a specially devised scoring system, the external genitalia (external …
methods Using a specially devised scoring system, the external genitalia (external …
Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015)
It is paramount that any child or adolescent with a suspected disorder of sex development
(DSD) is assessed by an experienced clinician with adequate knowledge about the range of …
(DSD) is assessed by an experienced clinician with adequate knowledge about the range of …