Complete Androgen Insensitivity Syndrome in a Phenotypic Female: The Role of Frozen Section in Assisting Diagnosis

TL;DR

This paper describes a case of a phenotypic female with complete androgen insensitivity syndrome and highlights the role of frozen section in confirming the diagnosis.

Contribution

The paper emphasizes the importance of frozen section in diagnosing complete androgen insensitivity syndrome and ruling out neoplastic lesions.

Findings

The patient had a 46,XY karyotype and absent uterus and adnexal structures.

Frozen section revealed fibro-collagenous tissue and hyalinized seminiferous tubules with no spermatogenesis.

Histopathological examination ruled out neoplastic lesions, confirming complete androgen insensitivity syndrome.

Abstract

Androgen insensitivity syndrome (AIS) is a rare disorder of sexual development. Patients present clinically with a varied phenotypic presentation depending on the residual androgen activity, which can be complete, partial, or mild. Karyotyping is helpful in the diagnosis of AIS. A suspicion of AIS should be considered in any female child presenting with inguinal swellings or labial edema. This report presents a case of this rare disorder in an 18-year-old unmarried girl who failed to achieve menarche. Tanner staging was performed, revealing a Tanner stage 4 for breast development and stage 2 for pubic hair. Clinical examination revealed bilateral inguinal swelling, clitoromegaly, and a blind-ending vagina. Radiological investigations additionally revealed the absence of the uterus and bilateral adnexal structures. Karyotyping was performed, which showed a 46,XY genotype. A surgical specimen was sent for a frozen section, which revealed fibro-collagenous tissue, blood vessels, epididymis, and hyalinized seminiferous tubules. Routine histopathological examination confirmed the absence of spermatogenesis and ruled out any neoplastic lesions. These findings were suggestive of complete AIS. This article highlights the pivotal role of frozen section in the diagnosis of such cases and emphasizes the importance of histopathological examination to rule out additional neoplastic etiology.

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