Background: There is paucity of information regarding etiology and clinical profile of hypopituitarism from populations with high rates of consanguineous marriage like Sudan. We report the first data on etiological factors and clinical profiles of children with hypopituitarism from Sudan. Methodology: This study was a descriptive, hospital based, retrospective study carried out in two major pediatric endocrinology centers in Sudan (Khartoum state) from January 2006 up to December 2014. Patients' records were reviewed (both in and out patient). Relevant demographical, clinical, hormonal and image data were collected using data collection sheets.
Results: The study included 156 patients. One hundred and one patients were males (M: F 1.8:1). The commonest age groups were those more than 10 years (adolescents) and represented 57.7 % of patients. Consanguinity was seen in 77.8 % of patients overall and in 91% of patients with congenital etiologies. The commonest clinical presentations were short stature and poor growth (93.5%) and delayed puberty (35.3%). Congenital causes (86.5%) were more prevalent than acquired causes (13.5%) there were six family clusters with multiple pituitary hormone deficiency and three families with isolated growth hormone deficiency. Most of the congenital cases of multiple pituitary hormone deficiency (MPHD) were phenotypic for Prop1 mutation (77.5% of sporadic cases and 50% of inherited cases). Craniopharyngioma was the commonest acquired cause, seen in 16 (10.2%) patients. Growth hormone was the most frequent hormone deficient (89.7%), The number of patients with congenital isolated growth hormone deficiency (IGHD) were higher (46.1%) than those with congenital MPHD (37.1%). MRI brain findings were significantly abnormal in patients with congenital MPHD more than those with congenital IGHD.
Conclusion: Hypopituitarism in populations with high rates of consanguineous marriage maybe at a higher incidence than international data. Growth hormone deficiency is the commonest hormone deficiency found either isolated or as part of multiple hormone deficiency. MRI brain imaging is of high value in the diagnosis of hypopituitarism. Genetic studying is of great value in populations with high rates of consanguineous marriage such as Sudan.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology