Peripheral Precocious Puberty In A Four Years Old Boy With Classic Simple Virilizing Congenital Adrenal Hyperplasia

Natal Ria, Wayan Bikin Suryawan, I. Arimbawa, I. Made, Darma Yuda
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Abstract

The study aims to describe a case of precocious puberty caused by classic simple virilizing congenital adrenal hyperplasia. This is a case of 4 years-old boy who developed premature pubarche 5 month before consultation. Patient also has penis enlargement with prepubertal testes and facial acne since age of three. His voice also changed to be more like an adult male voice. Physical examination revealed an alert boy, with normal vital sign, body weight of 27 kilograms (>P95, CDC Growth Chart 2000) and height of 126 centimeter (>P95, CDC Growth Chart 2000), with advanced bone age of 14-years-old child. The Sexual Maturity Rating score was G1P3( tanner stage 3), and his height was more than his mid-parenteral height. Laboratory test  was done revealed 17-OHP of 196.03 ng/ml (n: <= 0.90ng/ml), high level of testosterone at 270.1 ng/ml (n: <= 0.19ng/ml), level of B-HCG : <2.3mIU/ml, low level of LH : 0.1 mIU/ml (n: >0.6 mIU/ml), and low level of  FSH: 0.1 mIU/ml (n: 0-5.0mIU/ml). Ultrasound of Kidney shows a picture of hyperplasia of left adrenal gland. All of these findings allowed diagnosing him with classic simple virilizing congenital adrenal hyperplasia. Based on this diagnosis, he was then started on hydrocortisone, and after 6 months of starting the treatment, he has a favourable clinical outcome, without any secondary sex characteristics or bone age progression. Peripheral precocious puberty due to classic simple virilizing congenital adrenal hyperplasia may be asymptomatic from birth to the preschool age, therefore early  detection, immediate and appropriate managements are crucial and important to prevent late outcomes.
典型单纯性男性化先天性肾上腺增生的四岁男孩外周性性早熟
本文报告一例由典型单纯性男性化型先天性肾上腺增生引起的性早熟。这是一个4岁男孩在会诊前5个月出现耻骨过早的病例。患者自三岁起有阴茎增大伴青春期前睾丸及面部痤疮。他的声音也变得更像成年男性的声音。体格检查:男1例,身体体征正常,体重27公斤(>P95, CDC Growth Chart 2000),身高126公分(>P95, CDC Growth Chart 2000), 14岁,骨龄提前。性成熟评分为G1P3(tanner阶段3),身高高于肠外中等高度。实验室检测17-OHP为196.03 ng/ml (n: 0.6 mIU/ml), FSH低水平为0.1 mIU/ml (n: 0-5.0mIU/ml)。肾超声示左肾上腺增生。所有这些结果使他被诊断为典型的单纯性男性化先天性肾上腺增生。根据这一诊断,患者开始使用氢化可的松治疗,6个月后,患者临床结果良好,无第二性征或骨龄进展。典型的单纯性男性化先天性肾上腺增生引起的外周性性早熟可能从出生到学龄前都是无症状的,因此早期发现、及时和适当的处理对于预防晚期结果至关重要。
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