先天性肾上腺增生症的横断面研究
A Cross-Sectional Study of Congenital Adrenal Hyperplasia.
作者信息
Bouarab Ilham, Yakine Fatimazahra, Bouchra Slaoui
机构信息
Pediatrics Department, Abderrahim Harouchi Mother-Child Hospital, Ibn Rochd University Hospital, Casablanca, MAR.
出版信息
Cureus. 2024 Jun 30;16(6):e63520. doi: 10.7759/cureus.63520. eCollection 2024 Jun.
INTRODUCTION AND AIM
Congenital adrenal hyperplasia is an autosomal recessive disease caused by the deficiency of one of the enzymes of adrenal steroidogenesis, the most common of which is the deficiency of 21-hydroxylases. It represents a significant cause of morbidity and mortality in the pediatric population, especially in the absence of systematic neonatal screening in Morocco, which makes the management of these patients difficult for clinicians. This study aimed to describe the epidemiological, clinical, laboratory, evolutionary, and therapeutic profile of children followed for congenital adrenal hyperplasia at the pediatric endocrinology unit, Abderrahim Harrouchi Children's Hospital, Casablanca, Morocco. Materials and methods: A retrospective cross-sectional study including 184 children followed for congenital adrenal hyperplasia over a period of 11 years (from January 1, 2013, to December 31, 2023). The diagnosis was confirmed by molecular biology, and all clinical, laboratory, and radiological data were collected retrospectively from medical records.
RESULTS
The median age at diagnosis was 1.5 months (birth: 13 years). The consanguinity rate was 54.4% (n=100). A history of death in the family was found in 16.3% (n=30) of cases in a table of salt wasting and infections. The classic form was observed in 72% (n=132) of children compared to 28.3% (n=52) for the non-classical form. The virilizing form with salt wasting and the pure virilizing form represented 45.6% (n=84) and 26% (n=48) of cases, respectively. Deficiency in 21-hydroxylase was found in 91.8% (n=169) of children, while deficiency in 11-β-hydroxylase was identified in 4.9% (n=9) of cases, and in 3-β-hydroxysteroid dehydrogenase in 3.2% (n=6) of cases. A total of 40.7% (n=75) of children underwent corrective surgery of the external genitalia.
CONCLUSION
Congenital adrenal hyperplasia is a group of rare diseases. The best therapeutic alternative would be newborn screening and antenatal diagnosis.
引言与目的
先天性肾上腺皮质增生症是一种常染色体隐性疾病，由肾上腺类固醇生成过程中某种酶的缺乏引起，其中最常见的是21-羟化酶缺乏。它是儿科人群发病和死亡的重要原因，尤其是在摩洛哥缺乏系统性新生儿筛查的情况下，这使得临床医生对这些患者的管理变得困难。本研究旨在描述在摩洛哥卡萨布兰卡阿卜杜勒拉希姆·哈鲁奇儿童医院儿科内分泌科接受先天性肾上腺皮质增生症治疗的儿童的流行病学、临床、实验室、病情发展及治疗情况。材料与方法：一项回顾性横断面研究，纳入了11年间（2013年1月1日至2023年12月31日）接受先天性肾上腺皮质增生症治疗的184名儿童。诊断通过分子生物学得以证实，所有临床、实验室及放射学数据均从病历中进行回顾性收集。
结果
诊断时的中位年龄为1.5个月（出生至13岁）。近亲结婚率为54.4%（n = 100）。在失盐和感染病例表中，16.3%（n = 30）的病例有家族死亡史。72%（n = 132）的儿童表现为经典型，非经典型占28.3%（n = 52）。失盐型男性化和单纯男性化型分别占病例的45.6%（n = 84）和26%（n = 48）。91.8%（n = 169）的儿童存在21-羟化酶缺乏，4.9%（n = 9）的病例存在1l-β-羟化酶缺乏，3.2%（n = 6）的病例存在3-β-羟类固醇脱氢酶缺乏。共有40.
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