Non-classical Congenital Adrenal Hyperplasia Presenting With Severe Androgenic Alopecia: A Case Report
Khalid Al Hawsawi, Hamazah Qul, Ameera A Alkhamesi, Sarah M Fageeh

TL;DR
A 37-year-old woman with severe hair loss and acne was diagnosed with non-classical congenital adrenal hyperplasia and treated with prednisolone.
Contribution
This case highlights NCCAH presenting with severe androgenic alopecia as a rare clinical manifestation.
Findings
Elevated 17α-hydroxyprogesterone levels confirmed the diagnosis of non-classical CAH.
Prednisolone treatment was initiated to manage symptoms and improve fertility outcomes.
The patient exhibited hyperandrogenic symptoms despite normal menstrual cycles.
Abstract
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with cortisol synthesis impairment, commonly due to CYP21A2 gene mutations. Non-classical CAH (NCCAH) presents with hyperandrogenic symptoms such as acne, hirsutism, severe androgenic alopecia, and infertility. We report a 37-year-old female who presented with severe acne, progressive hair loss, and primary infertility despite regular menstrual cycles. Laboratory tests were normal except for elevated 17α-hydroxyprogesterone (17-OHP). Prednisolone was initiated to manage symptoms and address fertility.
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Taxonomy
TopicsSexual Differentiation and Disorders · Metabolism and Genetic Disorders · Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
