Hetero sexual precocious puberty: Case report and literature review

Zujaja Hina Haroon, Aamir Ijaz, Muhammad Asad Haroon, Shahid Ahmed, Muhammad Amjad Pervez, Naveed Asif


Congenital adrenal hyperplasia (CAH) is the most frequent disorder of sex development (DSD). It follows variable clinical course.We present a rare case of CAH that remained clinical enigma. A 6-year-old boy presented with increased pigmentation, deepeningof voice and appearance of male secondary sexual characteristics. There was history of frequent episodes of ill health withcough, fever, diarrhea and off and on vomiting. Laboratory workup revealed Serum Sodium 138 mmol/L (Ref Values: 135-145), Serum Potassium 4.1 mmol/L (Ref Values: 3.5-5.0), Serum Chloride 101 mmol/L (Ref Values: 97-106). Hormonal profilerevealed serum 17-OH Progesterone 85.9 nmol/L (Ref Values: 8.0), DHEA-S 861.9 μg/dl (Ref Values: 125-619), Testosterone 23.2 nmol/L (Ref Values: 0.1-2.4), Cortisol 563 nmol/L (Ref Values: 138-690), ACTH 1,152 pg/ml (Ref Values: 10-85), PlasmaActive Renin Mass Conc 45 μIU/ (Ref Values: 8-35 μIU/L), Plasma Aldosterone 115 pmol/L (Ref Values: 140-2,240). X-raybone age = 12 Y ± 6 m depicting precocious puberty. But USG abdomen and pelvis showed small uterus (28 mm × 13 mm× 22 mm) and karyotype revealed 46 XX genotype. Based on typical findings, a diagnosis of CAH with heterosexual precociouspuberty was established. Patient responded well to tablet Hydrocortisone 20 mg 1/2 BD and Mineralocorticoid (Florinef) Tablets 0.1 mg OD. The aim of current report is to revisit clinical approach to DSD with special emphasis to rare presentation of CAHwith heterosexual precocious puberty.

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DOI: https://doi.org/10.5430/crim.v4n1p12


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Case Reports in Internal Medicine

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