A clinical approach to diagnosis of ambiguous genitalia

Abstract

Disorders of sex development (DSD) are a sensitive and stressful condition for the family as well as the treating physician to deal with. The main issue in managing such cases is sex assignment. The decision is influenced by the cultural background, the sex of rearing, clinical features, the biochemical parameters including hormonal studies, the imaging reports, parental preference, fertility potential, and the assessment of mental make-up of the child when possible. In third world countries, there is diagnostic dilemma as most children with DSD present late and a detailed-lengthy work-up often delay their definitive treatment. In this article, the authors try to identify the important clinical features in children presenting with various types of DSD, which may aid in making a quick provisional clinical diagnosis and expediting the diagnostic work-up. The data have been gathered from 38 years of experience of the senior author while managing about 1200 cases of DSD in the pediatric intersex clinic at the tertiary care level institute.

Gangguan Perkembangan Seksual 46,XY: Sebuah Laporan Kasus dan Tinjauan Pustaka

“…Tanda lainnya adalah hipospadia dan ukuran penis yang kecil. 3,14 Hipospadia lebih lanjut diklasifikasikan menurut letak meatus uretra eksterna, yaitu glandular, koronal, subkoronal, sepanjang batang penis, penoskrotal, skrotal, dan perineal. 15 Stadium Prader dapat digunakan untuk menentukan derajat klinis pasien dengan hipospadia.…”

“…Analisis kromosom merupakan pemeriksaan awal yang harus dilakukan pada DSD dan sebaiknya menggunakan teknik karyotyping untuk menilai kelainan struktur kromosom secara lebih baik. 14,16 Pada DSD 46,XY akibat androgen insensitivity syndrome akan ditemukan jumlah testosteron normal atau meningkat dan pemeriksaan fisik genitalia interna laki-laki. Hal itu disebabkan karena hormon anti-Mullerian akan terus disintesis oleh testis sehingga duktus Wolffi akan mengalami diferensiasi, sementara duktus Mulleri akan regresi.…”

Divergent Gender Identity in a Phenotypic Male with 46XX Karyotype Caused by a Mutation in CYP21A2 Gene with Congenital Adrenal Hyperplasia

“…However, in third-world countries, the diagnostic process is often complicated, as many children with DSD present late or are diagnosed late, leading to delayed definitive treatment. [ 1 ]…”

Incidental Inguinal Tubercular Lymphadenitis in a female of Androgen Insensivity Syndrome- A rarest of rare presentation

“…3 In these cases, an integrated approach with detailed history and clinical examination supplemented by imaging, hormonal assays, karyotyping, and gonadal biopsy is necessary to arrive at a conclusive diagnosis. 4 Tuberculosis (TB) continues to be rampant in the Indian subcontinent despite concerted efforts under National Tuberculosis Elimination Programme. Infection by Mycobacterium tuberculosis leads to chronic granulomatous infection in the lungs and extra-pulmonary organs.…”