Background: Understanding the variation in progression from normal to precocious puberty is a matter of concern. Beside idiopathic central precocious puberty, CAH is an important cause of gonadotropin independent precocious puberty that requires a comprehensive treatment regimen to achieve normal growth and pubertal development. Aim of the work:This study aimed to evaluate growth and pubertal changes in children with CAH. Also, to consider the idiopathic central precocious puberty.Patients and Methods: Thirty three patients with classic 21 hydroxylase deficiency (14 SW and 19 SV CAH) enrolled in the study. They were assessed and followed up for growth and developmental characteristics .All patients were karyotyped and sex was determined, with recording of their hormonal profile and molecular genetic data, also treatment regimen was included.Results: Mean age of pubertal onset was earlier in CAH patients; it was more evident in male patients. Sixteen of thirty three CAH patients showed signs of gonadotrophin independent Precocious puberty. At pubertal onset, mean Ht (SDS) appeared to be higher in boys especially with SV form (2.1 ± 0.2), than in girls (0.9 ± 0.1 in SW, 0.9 ± 0.03 in SV). All those children had advanced bone age at onset of puberty and within average BMI (SDS) scores. None of CAH patients had 2ry central PP except for our case report of idiopathic central precocity who required GnRH treatment. Molecular genetic study for cyp21 revealed variable sized deletions in the structure of the gene in cases with CAH, where elevated levels of 17 OH P and testosterone were additionally observed. Conclusion:Our results demonstrated that management of CAH is challenging. Genetic studies as well as clinical, hormonal and radiological evaluation will eventually help in treatment of cases and counseling of families.
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