Abstract
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, …show more content…
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.
Keywords: Growth; Precocious Puberty; Congenital Adrenal Hyperplasia; Cyp21; Gonadotrophin Releasing hormone
List of Abbreviations: 17 OHP: 17 hydroxy progesterone; ACTH: adrenocorticotrophic hormone; BMI: Body mass index; Bp: Base pair;
CAH: Congenital adrenal hyperplasia; CT: Computeized tomography; cyp21: congenital adrenal hyperplasia results from steroid …show more content…
The line separating normal from abnormal onset of puberty represents children entering puberty more than 2.5 standard deviation earlier than average [1-3]. Precocious puberty can be classified as whether it is true or central; that is due to early but otherwise normal activation of hypothalamic pituitary gonadal axis, or pseudo precocious puberty i.e. for other causes due to production of gonadal steroids and if it is of the same or contra lateral sex [4]. An important cause of precocity in boys and girls is congenital adrenal hyperplasia
(CAH) that refers to an autosomal recessive condition caused
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, …show more content…
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.
Keywords: Growth; Precocious Puberty; Congenital Adrenal Hyperplasia; Cyp21; Gonadotrophin Releasing hormone
List of Abbreviations: 17 OHP: 17 hydroxy progesterone; ACTH: adrenocorticotrophic hormone; BMI: Body mass index; Bp: Base pair;
CAH: Congenital adrenal hyperplasia; CT: Computeized tomography; cyp21: congenital adrenal hyperplasia results from steroid …show more content…
The line separating normal from abnormal onset of puberty represents children entering puberty more than 2.5 standard deviation earlier than average [1-3]. Precocious puberty can be classified as whether it is true or central; that is due to early but otherwise normal activation of hypothalamic pituitary gonadal axis, or pseudo precocious puberty i.e. for other causes due to production of gonadal steroids and if it is of the same or contra lateral sex [4]. An important cause of precocity in boys and girls is congenital adrenal hyperplasia
(CAH) that refers to an autosomal recessive condition caused