Endocrine Abstracts

The reawakening of hypothalamo-pituitary-gonadal axis at puberty is influenced by a number of hormonal and genetic factors along with certain environmental cues. In boys, puberty is initiated at around 9 years of age as plasma concentrations of luteinizing hormone (LH), follicle stimulating hormone (FSH) and testosterone (T) begin to rise leading to development of secondary sex characteristics. The absence of signs of sexual maturation at the age of 14/15 years is regarded as ...

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by deficiency of 21-hydroxylase (CYP21), which inhibits adrenal synthesis of cortisol and aldosterone. The reduced cortisol synthesis leads to increased ACTH secretion, which results in adrenal gland hyperplasia, accumulation of steroid precursors and excessive adrenal androgen production, causing pseudoprecocious puberty. The study aimed at determining variance in two SNPs, I172N and V281L, of CYP2...

Of 563 genes involved in multiple processes of development of hypothalamo-pituitary-gonadal (HPG) axis during embryogenesis, mutations in 62 genes cause delayed puberty. We selected 6 of 37 delayed puberty patients for whole exome sequencing (WES) based on advanced age (>18 years) and severity of disease symptoms. Genomic DNA extraction was done using Qiagen kit at Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan. DNA samples were taken to ANZAC Researc...

The first signs of puberty are visible around the age of 8 years in girls and 9 years in boys. If signs of puberty appear before the designated ages in girls and boys, puberty is viewed as precocious. In peripheral precocious puberty, androgens concentrations increase due to testicular tumours or congenital adrenal hyperplasia (CAH). Two mutations, R356W and Q318X, and one 8 bp deletion in CYP21A2 gene, causing CAH type of precocious puberty were examined. Blood samples were o...

The signaling of G protein-coupled receptor 54 (GPR54) is a key regulator of the secretion of gonadotropin-releasing hormone (GnRH) from the hypothalamic GnRH neurons, whereas GnRH is a crucial neurohormone regulating the secretion of FSH and LH at the time of puberty. The deficiency in the release or action of GnRH leads to hypogonadotropic hypogonadism (HH) characterized by low FSH, LH and testosterone (T) and results in absent or impaired sexual development at puberty. In b...