ESPE Abstracts

Introduction: Rare endocrine diseases are lifelong chronic conditions requiring constant medical follow up of the affected individuals. More common among them are patients with hypopituitarism, Turner syndrome (TS), and Prader-Willi syndrome (PWS). The age between adolescence and adulthood, despite being difficult to define by age category alone is an important time for the personal development. This time may be made more difficult if accompanied by a chronic rare endocrine condition.

Objectives: The objective of this case series presentation is to describe a single Expert center of rare diseases experience concerning the transition of care for a contingency of rare endocrine disease patients.

Material and methods: Medical data of all patients transferred from pediatric to adult endocrine department was analyzed for a period of 5 years (2018-2022). Disease specific characteristics of the patients were analyzed.

Results: During the 5-year period 43 patients with rare endocrine diseases have reached the age of 18. Of them, 27 (62.8%) patients were transferred to the adult department and 6 from the transferred were subsequently lost to follow-up thus decreasing the rate of successful transfer to 48.8%. From those 27 patients, 18 had one of the three conditions requiring growth hormone (rhGH) treatment, the rest were with other rare genetic syndromes. Ten of the transferred patients had hypopituitarism (2 with acquired and 8 with congenital pituitary hormonal deficiency). Among the patients with hypopituitarism the average age at the transfer was 19.8±3.7 (18-30) years. Five of the patients had panhypopituitarism, other 3 being with partial deficiencies. Two patient with isolated GH deficiency have been transferred successfully. The patients with PWS and TS were all transferred at the age of 18 and in both groups three out of four were treated with rhGH.

Conclusion: Our preliminary data shows that transition at our Expert center has started primarily with patients who had not completely finished their growth and development by 18 years of age. Close follow-up of patients with rare endocrine diseases is important at the time of transition. Time of the transfer to the adult department was subject to expert evaluation and is individual on case basis. This further highlights the necessity of predefined measures to determine the best transition approach as well as its outcomes.