ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2019) 63 GP240 | DOI: 10.1530/endoabs.63.GP240

Adrenal axis deterioration in the families/sporadic patients with PROP1 mutation, over 30 years of single center longitudinal observation

Aleksandra Gilis-Januszewska1, Damian Rogoziński1, Łukasz Kluczyński1, Agata Zygmunt-Górska2, Małgorzata Wójcik2, Jerzy Starzyk2 & Alicja Hubalewska-Dydejczyk1

1Department of Endocrinology, Jagiellonian University, Medical College, Kraków, Poland; 2Department of Pediatric and Adolescent Endocrinology, Chair of Pediatrics, Pediatric Institute, Jagiellonian University, Medical College, Kraków, Poland.

Introduction: The time, degree and mode of pituitary function deterioration in patients with PROP1 mutation is not fully known and understood.

Aim: To investigate the time and mode of pituitary function deterioration in the families/sporadic patients with PROP1 mutation during longitudinal observation.

Methods: We performed a retrospective longitudinal (33 years, SD=12) analysis of 22 patients (11M/11W) with PROP1 mutation, including 5 families (13/22, 59% of investigated population), with 2–3 affected siblings who were under medical supervision of the pediatric/adult endocrinology departments of our university.

Results: All patients initially presented with growth failure at mean age (MA) 7.4 years (SD=4,3). 14/22 patients were first diagnosed with GH and TSH deficiency occured simultaneously and replacement therapy was instituted MA 6.6 years (SD=3.0). 5/22 (older patients) received delayed/intermittently GH treatment. Gonadal deficiency was diagnosed in 22/22 patients MA 15.6 years (SD=5.1). 20/22 (91%) patients developed adrenal deficiency MA 23.3 years (SD=15.0). In 2 patients with low morning cortisol/symptoms of adrenal insufficiency hydrocortisone supplementation was implemented during the transition period however reevaluation of the gonadal axis at age 21 revealed normal adrenal function. The age of deficiencies determination in siblings are given in the Table 1.

Table 1
Families Sex/Actual ageAge when insufficiency was diagnosedHGHTSHLH/FSHACTH

Conclusions: The pituitary function deteriorates progressively in patients with PROP1 mutation, however there is no specific order of deterioration even among affected siblings. The adrenal axis can deteriorate long after other axis insufficiencies, however there are patients with no adrenal insufficiency even during lifelong observation. Patients with PROP1 mutation should be carefully monitored for possible adrenal insufficiency including stimulation tests regardless of the time of observation.

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