ECE2019 Poster Presentations Calcium and Bone 2 (59 abstracts)
McCune-Albright syndrome: report of two cases
Athanasia Kalantzi 1 , Eirini Giagourta 1 , Simeon Tournis 2 , Labrini Papanastasiou 1 , Christos Gravvanis 1 , Spyridoula Glykofrydi 1 , Maria Chantziara 3 , Georgia Theodoropoulou 3 , Christos Patikos 4 , Nikolaos Georgakoulias 5 & Theodora Kounadi 1
1Endocrinology Department, Athens General Hospital G. Gennimatas, Athens, Greece; 2Laboratory of Research for Musculosceletal Diseases, National Kapodistrian University of Athens, KAT Hospital, Athens, Greece; 3Pathology Laboratory, Athens General Hospital G. Gennimatas, Athens, Greece; 4Reumatology Department, Athens General Hospital G. Gennimatas, Athens, Greece; 5Neurosurgery Department, Athens General Hospital G. Gennimatas, Athens, Greece.
Introduction: McCune-Albright syndrome (MAS) is a rare non-inheritable genetic disease. It is attributed to an early embryonic postzygotic somatic activating mutation of GNAS, leading to a mosaic that causes polyostotic fibrous dysplasia, café au lait macules and polyendocrinopathy.
Aim: To present two cases of this rare syndrome.
Case report: A 38-year-old male patient presented with a bone lesion of the forehead and acromegalic features. Acromegalism and hyperprolactinemia were confirmed (IGF-1 586 ng/ml, GH 1.7 ng/ml post OGTT, PRL 54.26 ng/ml). Pituitary MRI showed enlargement of the pituitary gland and a macroadenoma of 12.6 mm. Facial skull CT demonstrated fibrous dysplasia of the frontal and sphenoid bone. No compromise of the optic nerves or the external auditory canals was detected. Bone scan revealed fibrous dysplasia of the sacrum as well. Bone turnover markers were elevated (P1NP 143 ng/dl, β-CTX 0.767 ng/ml). Diagnosis of MAS was established. Partial biochemical control was accomplished with cabergoline and pegvisomant. Treatment was successfully switched to lanreotide autogel (IGF-1 285 ng/ml, GH1,1 ng/ml, PRL18.05 ng/ml). Bone turnover markers were restored with zolendronic acid infusion. Partial surgical removal of the craniofacial lesion restored facial deformity and confirmed histologically the diagnosis of fibrous dysplasia. A 77 year-old female patient previously diagnosed with MAS: café au lait macules of the right thigh, polyostotic fibrous dysplasia of the calvaria, left humerous, hiliac and femoral bone, hyperthyroidism due to toxic polyglangular goiter and bilateral adrenal adenomas, presented with bone pain. Bone turnover markers were elevated (ALP 172IU/L, P1NP 106.9 ng/ml) despite yearly infusions of zolendronic acid. Serum phosphorous was normal. Bisphosphonate treatment with 6-month intervals was decided. Serum TSH was suppressed under 5 mg of methimazole per day. Euthyrodism was restored with titration to 7.5 mg/day. Serum ACTH was low normal (8.7 pg/ml) and cortisol failed to suppress after ODST (F 100 nmol/l post dexa), indicating autonomous cortisol production, although no clinical findings of Cushing’s syndrome were present.
Conclusions: The phenotypic spectrum of MAS is wide, depending on the time during embryogenesis that the somatic mutation occurs, thus requiring thorough endocrine work up and individualization of the therapeutic approach. Management within the frame of a multidisciplinary team is often mandatory.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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