alexa Delay In The Onset Of Male Puberty: Role Of Mutations In Hypothalamic-pituitary-gonadal Axis | 62347
ISSN: 2161-038X

Reproductive System & Sexual Disorders: Current Research
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2nd International Conference on Reproductive Health
December 01-02, 2016 San Antonio, USA

Ghazala Shaheen
Quaid-i-Azam University, Pakistan
Posters & Accepted Abstracts: Reprod Syst Sex Disord
DOI: 10.4172/2161-038X.C1.003
Abstract
Mutations in TACR3 and LH-β gene have been reported as a cause of delayed puberty and hypogonadotropic hypogonadism (HH) in human. The present study was designed to determine the endocrine based role of TACR3 and LH-β genes mutations in HH in Pakistani boys. Thirty patients of delayed puberty with HH were included in the study. All patients had low levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH), growth hormone (GH), insulin like growth factor-1 (IGF-1) and testosterone (T). Eleven patients were receiving treatment (testosterone enanthate (TE) and IVF-C) and resulted in improved virilization. Genomic DNA was extracted and amplified by PCR using specific primers for screening of mutations in TACR3 and LH-β gene. In our study, TACR3 gene was selected and screened for His148Leu (H148L). While LH-β gene was screened for Gly56Asp (G56D) and Gly122Ser (G122S) mutations. H148L and G56D were not found in patients however, one mutation in LH-β gene was identified in two sporadic case of HH. The mutation was G to A conversion at nucleotide position 1561 and corresponding amino acid position 122 which cause the substitution of glycine amino acid with serine. This mutation (G122S) was found homozygous in fifteen years and five months old boy and heterozygous in sixteen years and three months old boy that might lead to reduced levels of LH and T; and possibly delayed the pubertal development. In conclusion, mutations in LH-β may play a role in delaying male puberty and cause HH in our local population.
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