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Horm Metab Res 2025; 57(04): 221-228
DOI: 10.1055/a-2538-3603
Review

46, XX DSD with Atypical Genitalia: Clinical Insights and Diagnostic Approaches

Manjiri Karlekar
1   Endocrinology, Seth GS Medical College and KEM Hospital, Mumbai, India (Ringgold ID: RIN29549)
,
Vijaya Sarathi
2   Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, Bengaluru, India (Ringgold ID: RIN75893)
,
Rohit Barnabas
1   Endocrinology, Seth GS Medical College and KEM Hospital, Mumbai, India (Ringgold ID: RIN29549)
,
Anurag Lila
1   Endocrinology, Seth GS Medical College and KEM Hospital, Mumbai, India (Ringgold ID: RIN29549)
,
Saba Samad Memon
1   Endocrinology, Seth GS Medical College and KEM Hospital, Mumbai, India (Ringgold ID: RIN29549)
,
Nalini Shah
1   Endocrinology, Seth GS Medical College and KEM Hospital, Mumbai, India (Ringgold ID: RIN29549)
,
Tushar Bandgar 
1   Endocrinology, Seth GS Medical College and KEM Hospital, Mumbai, India (Ringgold ID: RIN29549)
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Abstract

Congenital adrenal hyperplasia (CAH) is a rare disorder with autosomal recessive inheritance; it was historically known as adrenogenital syndrome. Patients with virilizing forms of CAH and a 46,XX karyotype present with varied degrees of hyperandrogenism due to different genetic defects in the adrenal steroidogenesis pathway. This comprehensive review describes a simplified diagnostic approach for patients with atypical genitalia and 46, XX DSD. It highlights the importance of a detailed history and clinical examination, with specific pointers toward the etiological diagnosis. There is a need for utilizing standardized liquid chromatography/tandem mass spectrometry (LC-MS/MS) assays to accurately diagnose these disorders of steroidogenesis. Choosing appropriate molecular testing methods has significant implications for establishing the diagnosis and providing genetic counseling.

Keywords

congenital adrenal hyperplasia - 46,XX DSD - adrenogenital syndrome

Supplementary Material



Publication History

Received: 02 January 2025

Accepted: 03 February 2025

Article published online:
05 March 2025

© 2025. Thieme. All rights reserved.

Georg Thieme Verlag KG
Oswald-Hesse-Straße 50, 70469 Stuttgart, Germany

 

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