Endocrine Abstracts

Introduction: Combined pituitary hormone deficiency (CPHD) due to PROP1 mutation is a rare cause of childhood-onset pituitary disfunction. Treatment with growth hormone is crucial for the proper development during childhood and adolescence, and to maintain adequate metabolic processes in the adulthood. There are other factors influencing patients metabolism e.g. steroid and estradiol/testosterone treatment.

Aim: To assess metabolic status of patients with CPHD due to PROP1 mutation.

Methods: 20/28 patients with PROP1 CPHD who are under medical supervision of the Department of Endocrinology (12 F/8 M; mean age [MA] 43.2 ± 14.2) completed routine laboratory tests during 2019.

Results: In all patients GH, TSH and gonadal axes deficiencies were diagnosed. In 17/20 adrenal and 1/20 ADH deficiency was diagnosed. 9/20 (older patients) received (due to no compliance/other reasons): no/delayed/intermittent GH treatment in childhood. In adulthood 7/21 patients were intermittently treated with GH. 8/12 F and 8/9 M have received sex hormones supplementation.

The sub-group of patients properly treated with HGH (t-HGH) in childhood consisted of 6 W/6 M, MA 33, 3 ± 7.3 y, mean final height (MFH) 170.4 ± 6.0 cm. In subgroup of patients not treatedwith HGH (nt-HGH) in childhood there were 6 W/2 M, MA 58.0 ± 8.1 y, MFH 139.6 ± 7.4 cm.

Combined analysis of all patients revealed that the most frequent disorders were hyperlipidaemia (65%), low bones mineralization (57%), vitamin D deficiency (50%), overweight (45%), visceral obesity (45%), hypertension (35%) and insulin resistance (35%).

The most common metabolic problems in nt-HGH were bone demineralization (100%), hyperlipidaemia (100%) and visceral obesity (75%) whereas in t-HGH low vitamin D concentration (50%), hyperlipidaemia (42%) and visceral obesity (42%).

In both group we have observed elevated markers of insulin resistance, however none of the patient met diabetes criteria.

Conclusions: Metabolic abnormalities are very common among patients with CPHD related to PROP1 mutation.

Metabolic changesand osteoporosis observed in young adults prove that even correct replacement therapy cannot prevent the health deterioration. Further investigation on understanding of metabolic disorders and setting standards of care (e.g. treatment of osteoporosis in young adults) are needed. This specific group of patients needs an extensive care of multidisciplinary team of experienced endocrinologist, cardiologist, rheumatologist and dietician.