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Endocrine Abstracts (2021) 73 OC4.5 | DOI: 10.1530/endoabs.73.OC4.5

ECE2021 Oral Communications Oral Communications 4: Reproductive and Developmental Endocrinology (6 abstracts)

Lower level of sexual maturation rating and reduced concentrations of reproductive hormones, luteinizing hormone, follicle stimulating hormone, testosterone and estradiol in short stature children with mutations in growth hormone secretagogue receptor 1a

Nighat Kausar 1 , Maleeha Akram 1 , Gulbin Shahid 2 , Mazhar Qayyum 1 , Afzaal Ahmed Naseem 1 , 3 , Fahim Tahir 4 , Sarwat Jahan 5 , Kiran Afshan 5 , Muhammad Rafi 6 & Syed Shakeel Raza Rizvi 1


1Pir Mehr Ali Shah Arid Agriculture University Rawalpindi, Department of Zoology/Biology, Rawalpindi, Pakistan; 2Pakistan Institute of Medical Sciences (PIMS), Islamabad, The Children’s Hospital, Islamabad, Pakistan; 3University of Lahore, Islamabad Campus, Islamabad, Institute of Diet and Nutritional Sciences, Islamabad, Pakistan; 4National Institute of Health, Reproductive Physiology, Public Health Laboratories Division, Islamabad, Pakistan; 5Quaid-i-Azam University, Department of Animal Sciences, Islamabad, Pakistan; 6Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan, Islamabad, Pakistan

Puberty onset is sensitive to the energy reserves of the organism, especially in females where there is an association between obesity and early puberty. Studies have shown that in the presence of growth hormone secretagogue receptor 1a (GHSR1a) mutations, there is a decrease in ghrelin-mediated appetite, resulting in relatively low BMI, which contributes to the delayed onset of puberty. Furthermore, delayed puberty is observed in clinical conditions associated with low IGF1, suggesting that IGF1 also exerts stimulatory, synergistic, or permissive effects on the onset of puberty. Thus, low IGF1 levels due to a decrease in GH secretion caused by GHSR1a insufficiency may also negatively modulate the timing of puberty onset. The present study was designed to determine the level of sexual maturation rating (SMR) and the concentrations of reproductive hormones, luteinizing hormone (LH), follicle stimulating hormone (FSH), testosterone (T) and estradiol (E2) in normal and short stature children having GHSR1a mutations. SMR including penile length, testicular volume, pubic hair and facial hair stage for boys (n = 21) and breast development and pubic hair stage for girls (n = 14) having short stature between the ages of 2 and 14 years was measured and compared with age matched control subjects (n = 50). The stage of pubertal development was assessed by using the criteria described by Tanner and Whitehouse. ELISA was used for analysis of plasma LH and E2 and specific RIA systems were used for analysis of plasma FSH and T. Data were analyzed using Student’s t test, ANOVA and Pearson correlation r. The results revealed a significant difference between mean penile length and testicular volume of normal boys and short stature boys at early and mid-pubertal stages. Similarly, breast development was significantly delayed in short stature girls than normal girls at early and mid-puberty. Pubic hair development in short stature girls and pubic and facial hair development in short stature boys were also significantly delayed as compared to normal girls and boys at early and mid-puberty. The levels of LH, FSH, T and E2 were higher in normal than short stature boys and girls and a significant difference was witnessed at early and mid-pubertal stages. In conclusion, SMR was higher in normal children as compared to short stature children. Furthermore, the concentrations of gonadotropins LH and FSH and sex steroids, T and E2 were significantly higher in normal children as compared to short stature children.

Volume 73

European Congress of Endocrinology 2021

22 May 2021 - 26 May 2021

European Society of Endocrinology 

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