Clinical, Hormonal and Cytogenetic Analysis of Familial DSD: A Case Report

Abstract

Disorder of Sex Development (DSD) comprises a heterogeneous group of conditions associated with atypical development of internal and external genitalias. Affected patients may be recognized due to the ambiguity of external genitalias. History taking, clinical examination, hormonal profile, and genetic analysis will help reach definitive diagnosis among patients with ambiguous genitalia. We report an Indonesian case of 27-year-old patient reared as a male with atypical genitalia. The patient presented with severe hypospadias, poor virilization, and development of gynecomastia at puberty. Laboratory examination showed 46,XY karyotype, normal of luteinizing hormone (LH), normal follicle-stimulating hormone (FSH), and high serum testosterone levels. His youngest brother of 3 siblings has the same condition. Both cases were suspected to be partial androgen insensitivity syndrome (PAIS). Diagnosis of a DSD can be devastating to patient and family. Patient management need to be individualized by a multidisciplinary team especially for decisions related to sex assignment or rearing. Although molecular analysis has not been done yet, the possible diagnosis of this patient is PAIS based on the karyotype, hormonal assays, familial cases, undermasculinisation of external genitalia, and predominantly abnormal male phenotype such as hypospadias, micropenis, and gynecomastia at puberty. AR gene analysis should be done to confirm the diagnosis.