An 11-year-old girl with genital ambiguity: a case of non-classical congenital adrenal hyperplasia

Authors

  • Aleya Ferdush Monni MD Phase-B Resident, Endocrinology and Metabolism, BIRDEM General Hospital, Dhaka, Bangladesh
  • Rezwana Sobhan MD Phase-B Resident, Endocrinology and Metabolism, BIRDEM General Hospital, Dhaka, Bangladesh
  • Md Faruque Pathan Professor, Department of Endocrinology, BIRDEM General Hospital, Dhaka, Bangladesh
  • Faria Afsana Assistant Professor, Department of Endocrinology, BIRDEM General Hospital, Dhaka, Bangladesh
  • Feroz Amin Associate Professor, Department of Endocrinology, BIRDEM General Hospital, Dhaka, Bangladesh

DOI:

https://doi.org/10.3329/birdem.v10i3.48717

Keywords:

clitoromegaly, congenital adrenal hyperplasia, hirsutism, non-classical congenital adrenal hyperplasia, short Synacthen test.

Abstract

Congenital adrenal hyperplasia (CAH) describes a group of autosomal disorders where there is impairment of cortisol biosynthesis. Here is a case of 11-year-old girl who presented with enlargement of external genitalia, excessive growth of hair in pubis, axilla, face and lower limbs along with growth spurt, excessive sweating and deepening of voice for 4 years. On examination she had normal body habitus, hirsutism (modified Ferriman- Gallwey Score-8), acanthosis nigricans in neck and axillary region, Tanner staging revealed stage-II breast development and stage IV female pattern pubic hair. Genitalia examination showed clitoromegaly with normal labia majora, minora and urethral position. Chromosomal analysis showed a normal female 46XX karyotype with normal uterus and bilateral ovaries on ultrasonography. Serum testosterone was elevated and 17- hydroxyprogesterone (17 OHP) was mildly elevated, raising the suspicion of non-classical congenital adrenal hyperplasia which was confirmed later by performing short Synacthen test. Patient and her parents were counseled regarding the diagnosis and clitoroplasty was done and prednisolone 5 mg daily at night in reverse circadian rhythm started. After 3 months of treatment, her hirsutism significantly reduced and menstruation had begun.

Birdem Med J 2020; 10(3): 204-206

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Published

2020-08-23

How to Cite

Monni, A. F., Sobhan, R., Pathan, M. F., Afsana, F., & Amin, F. (2020). An 11-year-old girl with genital ambiguity: a case of non-classical congenital adrenal hyperplasia. BIRDEM Medical Journal, 10(3), 204–206. https://doi.org/10.3329/birdem.v10i3.48717

Issue

Section

Case Reports