Familial case of congenital adrenal hyperplasia complicated with central precocious puberty
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Familial case of congenital adrenal hyperplasia complicated with central precocious puberty Markosyan Markosyan
Central precocious puberty results from the early activation of the hypothalamic-pituitarygonadal axis. It imitates physiological pubertal development, although at an inappropriate chronological age. The aetiology of central precocious puberty is often unknown but it’s Gonadotropin-releasing hormone dependent. Although central precocious puberty as a rule caused by central nervous system defeat or idiopathic reasons, seldom, congenital adrenal hyperplasia can be a peripheral cause of central precocious puberty. Congenital adrenal hyperplasia is autosomal recessive disorders caused by enzymatic defects in the corticosteroid synthesis pathway that is characterized by deficient production of the steroid hormones cortisol and/or aldosterone.
Decreased cortisol concentrations result in loss of the negative feedback inhibition leading to a compensatory increase of adrenocorticotropic secretion and hypertrophy of the adrenal cortex and consequently causing androgen excess. The average raised adrenal androgens or intermittent hyperandrogenemia may trigger the activation of the hypothalamic-pituitary axis leading to central precocious puberty. We experienced the family case of congenital adrenal hyperplasia, complicated by true precocious puberty with early maturation of the hypothalamic-pituitarygonadal axis in two brothers. In this family, a homozygous I2spl mutation was detected in the two probands during the allele-specific polymerase chain reaction, heterozygous mutation was detected in the mother, and the heterozygous carrier of this mutation was detected in the sister and
father. Examination of children in the family with the presence of one patient is mandatory, which will contribute to the timely identification of this pathology in probands. The progression of bone maturation in these patients can be explained with several reasons. On one hand it’s connected with late diagnosis of congenital adrenal hyperplasia, on the other hand with low parental compliance related with medicine consumption. The present cases demonstrated that central precocious puberty can be observed in undertreated for congenital adrenal hyperplasia. Central precocious puberty can be a complication of congenital adrenal hyperplasia, especially in countries where a routine neonatal screening program for this condition is missing.
DOI: https://ysmu.am/v2/wp-content/uploads/2023/05/4453f1c7-1.pdf The New Armenian Medical Journal Vol.14 (2020), Nо 3 111-114
