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Partial Androgen Insensitivity Syndrome Presenting with Gynecomastia.

Lee SW, Kwak DS, Jung IS, Kwak JH, Park JH, Hong SM, Lee CB, Park YS, Kim DS, Choi WH, Ahn YH - Endocrinol Metab (Seoul) (2014)

Bottom Line: Androgen insensitivity syndrome (AIS) is a rare endocrine disorder presenting with gynecomastia and is a disorder of male sexual differentiation caused by mutations within the androgen receptor gene.All individuals with AIS have the 46 XY karyotype, although AIS phenotypes can be classified as mild, partial or complete and can differ among both males and females including ambiguous genitalia or infertility in males.We experienced a case of partial AIS presenting with gynecomastia and identified the androgen receptor gene mutation.

View Article: PubMed Central - PubMed

Affiliation: Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea.

ABSTRACT
Gynecomastia is a benign enlargement of the male breast caused by the proliferation of glandular breast tissue. Determining the various causes of gynecomastia such as physiological causes, drugs, systemic diseases, and endocrine disorders is important. Androgen insensitivity syndrome (AIS) is a rare endocrine disorder presenting with gynecomastia and is a disorder of male sexual differentiation caused by mutations within the androgen receptor gene. All individuals with AIS have the 46 XY karyotype, although AIS phenotypes can be classified as mild, partial or complete and can differ among both males and females including ambiguous genitalia or infertility in males. We experienced a case of partial AIS presenting with gynecomastia and identified the androgen receptor gene mutation.

No MeSH data available.


Related in: MedlinePlus

Androgen receptor gene sequencing.
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Figure 3: Androgen receptor gene sequencing.

Mentions: To determine the androgen receptor gene mutation, the androgen receptor gene was amplified using polymerase chain reaction (PCR) with exon-specific probes and sequenced. A somatic mosaicism (c.2128G>A, [p.Glu710Lys]) in exon 4 was found (Fig. 3).


Partial Androgen Insensitivity Syndrome Presenting with Gynecomastia.

Lee SW, Kwak DS, Jung IS, Kwak JH, Park JH, Hong SM, Lee CB, Park YS, Kim DS, Choi WH, Ahn YH - Endocrinol Metab (Seoul) (2014)

Androgen receptor gene sequencing.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4508269&req=5

Figure 3: Androgen receptor gene sequencing.
Mentions: To determine the androgen receptor gene mutation, the androgen receptor gene was amplified using polymerase chain reaction (PCR) with exon-specific probes and sequenced. A somatic mosaicism (c.2128G>A, [p.Glu710Lys]) in exon 4 was found (Fig. 3).

Bottom Line: Androgen insensitivity syndrome (AIS) is a rare endocrine disorder presenting with gynecomastia and is a disorder of male sexual differentiation caused by mutations within the androgen receptor gene.All individuals with AIS have the 46 XY karyotype, although AIS phenotypes can be classified as mild, partial or complete and can differ among both males and females including ambiguous genitalia or infertility in males.We experienced a case of partial AIS presenting with gynecomastia and identified the androgen receptor gene mutation.

View Article: PubMed Central - PubMed

Affiliation: Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea.

ABSTRACT
Gynecomastia is a benign enlargement of the male breast caused by the proliferation of glandular breast tissue. Determining the various causes of gynecomastia such as physiological causes, drugs, systemic diseases, and endocrine disorders is important. Androgen insensitivity syndrome (AIS) is a rare endocrine disorder presenting with gynecomastia and is a disorder of male sexual differentiation caused by mutations within the androgen receptor gene. All individuals with AIS have the 46 XY karyotype, although AIS phenotypes can be classified as mild, partial or complete and can differ among both males and females including ambiguous genitalia or infertility in males. We experienced a case of partial AIS presenting with gynecomastia and identified the androgen receptor gene mutation.

No MeSH data available.


Related in: MedlinePlus