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

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...

Full description

Bibliographic Details
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
id doaj-9681a68a7c1e474c9b1d5e813cf3409d
record_format Article
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
_version_ 1725327508933443584

Similar Items