ESPE Yearbook of Paediatric Endocrinology

Sudan J Paediatr 2021;21:53–60. doi: 10.24911/SJP.106-1588448825

– This paper describes the characteristics of 156 children and adolescents with hypopituitarism from 2 hospitals in Sudan– Congenital causes (86.5%) were more prevalent than acquired causes (13.5%)– Consanguinity was found in 77.8% of patients overall and 91% of patients with congenital aetiologies. There were six family clusters with multiple pituitary hormone deficiencies and three families with isolated growth hormone deficiency

The population studied here presents unique characteristics that highlight the importance of considering the specificity of the environment (e.g. culture, society, access to medical care). First, among the 156 patients, consanguinity (1^st or 2^nd degree cousinship) was found in 112 (71.8%) (and in 91% of those with congenital aetiologies). This is higher than the reported overall prevalence of consanguinity in Sudan (44.2 to 63.3%) (1), suggesting that consanguinity played a role in the disease. Second, patients were mostly adolescents, suggesting late diagnosis and onset of treatment. Indeed, the reasons for referral were primarily short stature and delayed puberty. This is also consistent with the finding of short stature, regardless on whether there was isolated GH deficiency or multiple hormone deficiencies (the height of the patients was between -2SD and -5SD in more than half of the cohort, and < −5 S.D. in more than 1/3 of the patients). It would be interesting to know whether the older patients originated from areas where specialist care is less likely to be available, such as in rural areas. Finally, the Male:Female ratio 1.8:1, contrasting with the expected ratio of 1. This may suggest societal factors, with more importance being given to short stature and delayed puberty in a boy compared to a girl. Understanding the characteristics of hypopituitarism in specific settings is an important step towards promoting appropriate training of health professionals.

References: 1. Tadmouri GO; Al Ali MT; Al Khaja N; Hamamy HA; Obeid T; Nair, P. Consanguinity rates in Arab populations. Reproductive Health 2009; 6 (1):17.