Clinical characteristics of pituitary hormone deficiency in children: A single centre experience

The clinical presentation of hypopituitarism varies from asymptomatic to circulatory compromise. The late diagnosis may cause significant mortality and morbidity. There is scant data on the clinical profile.

A cross-sectional descriptive analysis was carried out on diagnosed children with hypopituitarism at the endocrinology unit of Lady Ridgeway Hospital for Children, Sri Lanka, from 2013-2021. The presence and progression of pituitary hormonal deficiency were ascertained.

Out of the total 94 children with hypopituitarism, 52 had congenital hypopituitarism with a median presenting age of 5.86 years (IQR 3-9). Short stature was the commonest presentation (59.6%). Multiple pituitary hormone deficiency (MPHD) was seen in 27 (51.91%). MPHD was associated with the presence of postnatal risk factors (OR 2.036, 95% CI 1.94-3.786) and MRI Imaging abnormalities in hypothalamic-pituitary morphogenesis (OR 1.768, 95% CI 1.087-2.874). 90.4% with GHD, 46.2% with ACTH deficiency, and 40.4% with TSH deficiency had the mean age of presentation 6.54 years, 6.11 years, and 5.56 years respectively. Of the children above 13 years, 57% showed hypogonadism. Hypoplastic anterior pituitary (40.4%) was the commonest MRI abnormality. Out of the 42 children with brain tumours, 25 (59.52%) had craniopharyngioma, and 13 (31%) had Medulloblastoma, while MPHD was seen in 32 (76.2%). Hormone deficiency at the presentation was seen in 57.1%.

Comprehensive evaluation and periodic screening are mandatory for the timely diagnosis of MPHD.