Endocrine Abstracts

JOINT525

Background and Aim: Rathke cleft cysts (RCC) are usually asymptomatic in childhood and are often diagnosed incidentally on cranial imaging. We aimed to analyse the presenting symptoms, endocrine evaluation, and natural course of our symptomatic patients with RCC.

Methods: We identified 14 patients (8 male, 6 female) with RCC via the university hospital’s database and extracted the clinical data from the medical files. The retrospective study covered a period from 2005 to 2023.

Results (median, min-max): The diagnosis of RCC was made by magnetic resonance imaging at 11.0 (1.8 -17.6) years. The presenting symptoms were headaches [alone (n = 1) or in combination with nausea/fatigue (n = 2), polydipsia (n = 2) or dizziness (n = 3)] followed by short stature/growth retardation [alone (n = 4) or with polydipsia (n = 1)]. One patient had a syncope with a papilledema. The endocrinological evaluation revealed pituitary insufficiency in 10 children. Growth hormone (GH) deficiency was diagnosed in five patients [isolated (n = 1) or in combination with arginine vasopressin (AVP) deficiency (n = 1) or with central hypothyroidism/hypocortisolism (n = 3)]. AVP deficiency was found in 5 patients [isolated (n=1), or in combination with central hypothyroidism (n = 2), or hypocortisolism (n = 2)]. Three patients had hyperprolactinemia. Nine patients were treated conservatively (n = 4: no medication; n = 4: hGH, alone or in combination with L-T4 and hydrocortisone, n = 1: desmopressin). Five underwent surgery (transcranial 1; transsphenoidal 4). In the conservatively treated patients, cyst size remained unchanged in 7 and decreased in 2. Of the five patients treated surgically, the cyst size increased in 4; three required a second operation. At the last presentation, after a follow-up period of 6.4 (0.33-14.8) years, the hormone status of conservatively treated patients was normal in 6 and pathological in 3. Five patients (4 m, 1 f) developed hypogonadotropic hypogonadism, including two children who were only treated conservatively.

Conclusions: In our cohort, neurological disorders were the most common reason for the initial presentation. Endocrine evaluation revealed pituitary insufficiency in 10/14 children, with GH- and AVP deficiencies being the most common findings. Regular imaging and endocrine follow-ups are necessary due to the potential for changes in cyst size and hormonal findings.