ECE2016 Eposter Presentations Male Reproduction (18 abstracts)
Delay in the onset of male puberty: role of mutations in luteinizing hormone-beta gene
Ghazala Shaheen 1 , Maleeha Akram 1 , Qiaser Mansoor 2 , Muhammad Ismail 2 , Osama Ishtiaq 3 , Sarwat Jahan 4 , Afzaal Ahmed Naseem 1 , Mazhar Qayyum 1 & Syed Shakeel Raza Rizvi 1
1Department of Zoology, Pir Mehr Ali Shah Arid Agriculture University Rawalpindi, Rawalpindi, Pakistan; 2Institute of Biomedical and Genetic Engineering, (IBGE), Islamabad, Pakistan; 3Department of Endocrinology, Shifa International Hospital, Islamabad, Pakistan; 4Department of Animal Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
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 delayed puberty. One of the main causes of delay in puberty is hypogonadotropic hypogonadism (HH), characterized by low LH, FSH and T secretion, resulting in absent or impaired sexual development. This study examined the endocrine and genetic basis of pubertal delay in boys. Blood samples were obtained from 30 boys of delayed pubertal development and 30 age matched controls. The plasma concentration of growth hormone (GH), LH, FSH and T were determined using ELISA. Based on low plasma concentrations of GH, LH, FSH and T, genetic analysis was performed for determining possible mutations in TACR3 and LH-β genes. TACR3 is expressed in the hypothalamus, whereas LH-β is synthesized by pituitary gonadotropes. One mutation, H148L, of TACR3 and two mutations, G56D and G122S, of LH-β were screened. DNA was extracted from blood samples of both groups by organic method, primers of exons of TACR3 and LH-β splice sites were designed and PCR-RFLP method was employed for analysis. The mutations H148L of TACR3 and G56D of LH-β were not found in any group, whereas the PCR product of LH-β digested by enzyme Eco01091 gave bands of 3 different genotypes in HH boys, GG (93.33%), GA (3.33%) and AA (3.33%). Thus, one heterozygous G122S mutation in one and one homozygous G122S mutation in another patient were identified. In conclusion, homozygous G122S mutation may cause pubertal delay in our local population.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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