Endocrine Abstracts

Background and aim: Congenital Growth hormone deficiency (CGHD) may result from genetic or congenital disorders of pituitary development. It could be isolated or combined with other types of hypopituitarism. This study aims to evaluate the prevalence of combined hypopituitarism and its associated factors in patients with CGHD.

Patients and Methods: We conducted a retrospective study (1991-2019) at the Endocrinology department of Hedi Chaker University Hospital, Sfax, Tunisia. We involved 87 patients diagnosed with CGHD, whose clinical, biochemical, and imaging peculiarities were collected from medical charts.

Results: The mean age at diagnosis was 14 years (1-33 years), with a male predominance (59%). Seventy-five percent of cases were referred for short stature. We noted a delayed diagnosis in 65% of cases. The median height was 131 cm (67 - 169 cm). Severe growth delay was noticed in 38.6% of cases. The bone age was delayed in all cases comparing to chronological age. The average delay was of 48 months (6-152 months). Patients with isolated CGHD represented 20% compared to those with combined hypopituitarism (80%). Gonadotropic insufficiency was most often associated with GHD in 64%, followed by corticotropic and thyrotropic insufficiency in 48% and 38%, respectively. The prolactin axis was involved in 18%. The most characteristic profile of combined hypopituitarism implicated two or three axes in 25.9 % of each, four axes in 17.6 %, and all five pituitary axes in 10.6%. Associated factors related to the number of defective pituitary axes are displayed in table 1. Family occurance of hypothyouism is more frequent in patients featured as combined hypotuirism.

Discussion: Our work features a high prevalence of combined hypopituitarism in patients with CGHD of 80% vs 10% in the literature. These disparities could be partially explained by the pediatric age and the relatively short follow-up duration (<5 years) in the published studies. Otto et al. have shown the development of a second hormonal deficit in patients with isolated CGHD occurs on average 5.4 years after the initial diagnosis. In patients with CGHD, we recommend a regular evaluation of the remaining pituitary function to detect and treat delayed and subclinical forms of combined hypopituitarism.