Clinical Presentation of Congenital Hypopituitarism: Lessons From a Large Academic Centre.

Objective: Pituitary hormone deficiencies are associated with considerable morbidity, yet the variability of presentation and evolution of congenital hypopituitarism remains unexplored. This study investigated differences in presentation of congenital isolated pituitary hormone deficiency (cIPHD) versus congenital multiple pituitary hormone deficiency (cMPHD) and the progression of cIPHD to multiple deficiencies.

Design/patients/measurements: We conducted a single centre retrospective chart review of children ≤ 3 years old with abnormal brain/pituitary imaging and ≥ 1 pituitary hormone deficiency. cIPHD was defined as 1 hormone deficiency diagnosed within 1 month of endocrine consultation; cMPHD was ≥ 2 deficiencies. Data were summarised by descriptive statistics; Wilcoxon tests (continuous variables) and chi-square or Fisher's exact tests (categorical variables) were used for comparisons with significance at p < 0.05.

Results: Fifty-six individuals were identified; 46.4% presented with cIPHD and 53.6% with cMPHD. Those with cIPHD were older at initial endocrine consultation (median 62.5 days [IQR 7.3-240.8]) vs. those with cMPHD (10.0 days [6.3-26.5], p = 0.02). Reason for consultation (e.g., abnormal imaging or hypoglycemia) was associated with presentation as cIPHD or cMPHD (p = 0.01). The most common cIPHD at presentation was AVP deficiency (34.6%); the most common cMPHD at presentation was combined ACTH and TSH deficiencies (43.3%). Most individuals with cIPHD (65.4%) progressed to multiple hormone deficiencies by 3 years of age.

Conclusions: Individuals with cMPHD were more likely to be identified earlier and present with hypoglycemia than those with cIPHD. As the majority with cIPHD evolved to cMPHD, close monitoring is necessary to facilitate timely detection and treatment of evolving hormone deficiencies.