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Documents Klinefelter Syndrome in Childhood: Variability in Clinical and Molecular Findings

What is already known on this topic? Abstract Objective: Klinefelter syndrome (KS) is the most common (1/500–1/1000) chromosomal disorder in males, but only 10% of

Documents Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450...

Original article Purpose: Cytochrome P450 oxidoreductase (POR) deficiency is a rare autosomal recessive disorder caused by mutations in the POR gene encoding an electron

Documents Androgen insensitivity syndrome

Androgen insensitivity syndrome3873 Abstract. – OBJECTIVE: We provide a review of the literature about the Androgen Insensitivity Syndrome (AIS), its onset and associated

Documents Androgen insensitivity syndrome: a review

Arch Endocrinol Metab. 2018;62/2 1 Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/ LIM42, Hospital das Clínicas,

Documents Disorders of Sex Development: Ambiguous Genitalia and Partial Androgen Insensitivity Syndrome

BK-EMP-CONF_PROCEEDINGS-180058-FM 1..9Disorders of Sex Development: Ambiguous Genitalia and Partial Androgen Insensitivity Syndrome Rajuddin Staff Division of Fertility Endocrinology

Documents Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS)

Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS)Different Clinical Presentations and Management in Complete Androgen Insensitivity

Documents Analysis of the androgen receptor (AR) gene in a cohort of Indonesian undermasculinized 46, XY DSD.....

Analysis of the androgen receptor (AR) gene in a cohort of Indonesian undermasculinized 46, XY DSD patientsRESEARCH Open Access Analysis of the androgen receptor (AR) gene

Documents Morris Syndrome

Morris SyndromeThe Gynecologist 2019 | Volume 1 | Article 1007019© 2019 - Medtext Publications. All Rights Reserved. ISSN 2688-9366 Morris Syndrome Case Report Introduction

Documents A novel compound heterozygous variant in CYP19A1 resulting in aromatase deficiency with normal...

The Turkish Journal of Pediatrics September-October 2020826 Aromatase is a type II cytochrome P450 enzyme located in the endoplasmic reticulum, which catalyzes the conversion

Documents Ambiguous genitalia in neonates

Last updated: Aug 27, 2019 Table of Contents Summary 3 Basics 4 Definition 4 Epidemiology 4 Etiology 4 Pathophysiology 7 Prevention 10 Summary ◊ Ambiguous genitalia (i.e.,