Abstract
Objective: Congenital adrenal hyperplasia (CAH) is a group of disorders with autosomal recessive inheritance, caused by a deficiency of one of five enzymes needed for cortisol biosynthesis in adrenal cortex. %90 of CAH patients have deficiency of the 21- hydroxylase enzyme. Treatment of CAH is inexpensive and easy with an early diagnosis. Early diagnosis is very important for salt-wasting CAH to prevent mortality and morbidity. On the other hand, the diagnosis can be confusing in the male sex due to the lack of physical examination findings and severe acute adrenal crisis may develop. Many countries use a CAH screening program based on 17-OHP levels from heel-stick blood samples on filter paper is applied. However, there is no screening program for CAH in Turkey. In this study, we aimed to diagnose nonsymptomatic male CAH patients with scrotal hyperpigmentation to emphasize early diagnosis and treatment.
Material and Methods: 82 male newborns where scrotal hyperpigmentation had been detected at the Keçiören Research and Educational Hospital Neonatology Clinic were included in the study. Gestational week, birth weight, maternal age, postnatal day, physical examination and laboratory findings were recorded.
Results: Three of the 82 newborns with scrotal hyperpigmentation (3.65%) were diagnosed with CAH. Two of them were diagnosed with salt wasting CAH and the other with simple virilizing CAH.
Conclusion: On physical examination, scrotal hyperpigmentation is important for early diagnosis of CAH in the male sex. Newborns with scrotal hyperpigmentation should be examined more carefully regarding CAH
Keywords: Congenital adrenal hyperplasia, Scrotal hyperpigmentation, Newborn
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