Background: Mc Cune Albright (MAS), is a rare genetic disease clinically defined by bone fibrous dysplasia (BFD), café au lait skin spots and at least one hyperfunction endocrinopathy. Growth Hormone (GH) excess has been described in 20% of patients usually accompanied by hyperprolactinemia (80%). As reported in literature GH hypersecretion is allways associated with craniofacial BFD, macrocephaly and is also accompanied by higher risk of systemic morbidity. Medical therapy is first line treatment and includes somatostatin analogs, GH receptor antagonist, and dopamine agonists. Treatment goal is to maintain IGF1 Z-score between -2 + 1 SDS and growth velocity according to Tanner stage, sex and age.
Aim: We report a long term outcome on somatostatin analogue and cabergoline treatment for growth hormone excess in a girl with MAS.
Clinical Case: A 15 year old girl, without personal and family relevant history, was sent for endocrinological evaluation at 2.72 years, because of tall stature (height +2.57 SDS), high growth velocity (12cm/y) and advanced bone age (4y). Physical exam showed no pubertal signs and a large café au lait skin spot characteristic of MAS. GH excess was diagnosed by a paradojal response on OGTT (GH 13.4ng/ml) and high IGF1 Z-score (+ 3.32 SDS). No other endocrinopathies were detected. Pituitary MRI was normal. Octreotide LAR was started at 0.15mg/kg every 28 days. After 1 year follow-up cabergoline was added at 1mg/week, due to the lack of full response on auxiological (growth velocity 9cm/y) and analitical parameters (IGF1 Z-score +1.25 SDS; GH 5ng/ml; PRL 39pg/ml) .Under combined treatment all parameters normalized, and remained according to sex, age and Tanner stage. Menarche was presented at normal age (12.56 y). She reached near adult height (169.3cm) according to genetic target (169.9cm) with a height growth velocity of 1.7 cm/y. During 12.6 years of follow-up, no other endocrinopathies were diagnosed, pituitary MRI remained normal and no adverse events appeared. Craniofacial BFD and long BFD were not found neither in current head CT nor in 99mTC MDP bone Scintigraphy.
Conclusions: To our knowledge this is the youngest patient treated with somatostatin analogue and cabergoline. Our data suggest that early treatment with strict compliance could prevent craniofacial complications. This clinical case emphasizes the effectiveness and safety of an early combined treatment in a girl with MAS and GH excess. Further studies with greater number of patients are needed to confirm these conclusions.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology