Partial androgen insensitivity syndrome presenting as pubertal gynecomastia: clinical and hormonal findings and a novel mutation in the androgen receptor gene

Pubertal gynecomastia is common, can be seen in 65% of the adolescent boys and is considered physiological. It is thought to be due to transient imbalance between the ratio of testosterone and estradiol in the early stages of puberty. It resolves in 1–2 years and requires no treatment. However, more...

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Main Authors:	Priya Vaidyanathan, Paul Kaplowitz
Format:	Article
Language:	English
Published:	Bioscientifica 2018-12-01
Series:	Endocrinology, Diabetes & Metabolism Case Reports
Online Access:	https://edm.bioscientifica.com/view/journals/edm/2018/1/EDM18-0128.xml

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spelling	doaj-9681a68a7c1e474c9b1d5e813cf3409d2020-11-25T00:30:18ZengBioscientificaEndocrinology, Diabetes & Metabolism Case Reports2052-05732052-05732018-12-01111310.1530/EDM-18-0128Partial androgen insensitivity syndrome presenting as pubertal gynecomastia: clinical and hormonal findings and a novel mutation in the androgen receptor genePriya Vaidyanathan0Paul Kaplowitz1Division of Endocrinology, Children’s National Health System, Washington, District of Columbia, USADivision of Endocrinology, Children’s National Health System, Washington, District of Columbia, USAPubertal gynecomastia is common, can be seen in 65% of the adolescent boys and is considered physiological. It is thought to be due to transient imbalance between the ratio of testosterone and estradiol in the early stages of puberty. It resolves in 1–2 years and requires no treatment. However, more persistent and severe pubertal gynecomastia is less common and can be associated with pathological disorders. These can be due to diminished androgen production, increased estrogen production or androgen resistance. We report a case of persistent pubertal gynecomastia due to partial androgen insensitivity syndrome (PAIS), classical hormone findings and a novel mutation in the androgen receptor (AR) gene.https://edm.bioscientifica.com/view/journals/edm/2018/1/EDM18-0128.xml
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Priya Vaidyanathan Paul Kaplowitz
spellingShingle	Priya Vaidyanathan Paul Kaplowitz Partial androgen insensitivity syndrome presenting as pubertal gynecomastia: clinical and hormonal findings and a novel mutation in the androgen receptor gene Endocrinology, Diabetes & Metabolism Case Reports
author_facet	Priya Vaidyanathan Paul Kaplowitz
author_sort	Priya Vaidyanathan
title	Partial androgen insensitivity syndrome presenting as pubertal gynecomastia: clinical and hormonal findings and a novel mutation in the androgen receptor gene
title_short	Partial androgen insensitivity syndrome presenting as pubertal gynecomastia: clinical and hormonal findings and a novel mutation in the androgen receptor gene
title_full	Partial androgen insensitivity syndrome presenting as pubertal gynecomastia: clinical and hormonal findings and a novel mutation in the androgen receptor gene
title_fullStr	Partial androgen insensitivity syndrome presenting as pubertal gynecomastia: clinical and hormonal findings and a novel mutation in the androgen receptor gene
title_full_unstemmed	Partial androgen insensitivity syndrome presenting as pubertal gynecomastia: clinical and hormonal findings and a novel mutation in the androgen receptor gene
title_sort	partial androgen insensitivity syndrome presenting as pubertal gynecomastia: clinical and hormonal findings and a novel mutation in the androgen receptor gene
publisher	Bioscientifica
series	Endocrinology, Diabetes & Metabolism Case Reports
issn	2052-0573 2052-0573
publishDate	2018-12-01
description	Pubertal gynecomastia is common, can be seen in 65% of the adolescent boys and is considered physiological. It is thought to be due to transient imbalance between the ratio of testosterone and estradiol in the early stages of puberty. It resolves in 1–2 years and requires no treatment. However, more persistent and severe pubertal gynecomastia is less common and can be associated with pathological disorders. These can be due to diminished androgen production, increased estrogen production or androgen resistance. We report a case of persistent pubertal gynecomastia due to partial androgen insensitivity syndrome (PAIS), classical hormone findings and a novel mutation in the androgen receptor (AR) gene.
url	https://edm.bioscientifica.com/view/journals/edm/2018/1/EDM18-0128.xml
work_keys_str_mv	AT priyavaidyanathan partialandrogeninsensitivitysyndromepresentingaspubertalgynecomastiaclinicalandhormonalfindingsandanovelmutationintheandrogenreceptorgene AT paulkaplowitz partialandrogeninsensitivitysyndromepresentingaspubertalgynecomastiaclinicalandhormonalfindingsandanovelmutationintheandrogenreceptorgene
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Partial androgen insensitivity syndrome presenting as pubertal gynecomastia: clinical and hormonal findings and a novel mutation in the androgen receptor gene

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