Apparent Clitoromegaly in a Newborn: A Case of Congenital Adrenal Hyperplasia

This case report elucidates the diagnostic trajectory of a female newborn, presenting with apparent clitoromegaly, ultimately diagnosed with congenital adrenal hyperplasia (CAH). The patient was born in a prominent obstetrics and gynecology center in Tbilisi, Georgia, where the anomaly was promptly identified following a physiologically normal pregnancy and labor. Despite the relative infrequency of such cases in our center, particularly among term infants, the handling of this case was swift and successful. Comprehensive examinations were conducted, with meticulous documentation of clitoromegaly measurements utilizing contemporary methodologies and grading scales. The center conducted essential primary tests, including abdominal and pelvic ultrasounds, and advised the parents on the requisite laboratory tests to ascertain a precise diagnosis. Laboratory tests mainly focused on detecting any abnormality in the pituitary-adrenal gland axis functioning. However, the delay in obtaining karyotyping due to its high cost did not hinder the diagnostic process. Pertinent findings collectively led to the diagnosis of 46 (XX) disorder of sex development (DSD), specifically CAH. Subsequently, the patient's parents received comprehensive counseling regarding further steps, and the patient was promptly referred to a pediatric endocrinologist for specialized management.