€> Freund Publishing House Ltd.. London Journal of Pediatric Endocrinology & Metabolism, 22,177-179 (2009) Gigantism with Pituitary Macroadenoma: An Unusual Variant of McCune-Albright Syndrome S. Queirolo 1 , F. Gallarotti 1 , E. Capuano 1 , M.L. Garre 2 , R. Spaziante 3 and E. Di Battista 1 'Division ofAuxo-endocrinology, Department of Paediatrics, University of Genoa and 'Neuro-oncology Unit, Hemalo-oncology Department, G. Gaslini Children 's Research Hospital and 3 Department of Neurosurgery, San Martina University Hospital, Genoa, Italy INTRODUCTION Extreme physical size and stature (gigantism) is a rare condition in childhood, and when it is present it is rarely due to growth hormone (GH) excess, but more frequently of genetic etiology (familial tall stature, Klinefelter syndrome, Sotos syndrome, Marfan syndrome, etc.)· GH hypersecretion is usually caused by pituitary adenomas, even though other causes such as somatotroph hyperplasia may be involved. Endocrine gigantism typically occurs as an isolated disorder, but it may also be a feature of some syndromes such as neurofibromatosis, multiple endocrine neoplasia type l (MEN1) or McCune-Albright syndrome (MAS) 1 . In its classic form, MAS is characterised by precocious puberty, cafe-an-lail skin spots, and polyostotic fibrous dysplasia. An unusual form of this complex, heterogeneous disorder may arise in conjunction with GH excess and/or other endocrinopathies and abnormalities. In the literature there are very few case reports of MAS associated with GH excess that are caused by secreting pituitary adenomas. Most are reported as acromegaly since they are diagnosed in the third decade of life. Paediatric reports are even more uncommon 2 " 4 . Herein we describe the case of an 11 year-old boy with GH hypersecretion. Reprint address: Dott. Queirolo Sara Largo G. Gaslini 5 16147 Geneva, Italy e-mail: quei_sara@libero.it; queirolo.sara@gmail.com PATIENT REPORT An 11.4 year-old boy was admitted to the Paediatric Department of the G. Gaslini Institute in Genoa complaining of weakness, forehead pain, sight disturbances (prevalently in the left eye) and slowed speaking. The patient reported having these symptoms for 4-5 months. He was born from unrelated parents after an uneventful pregnancy. Size at birth and early psychomotor development were normal. At presentation he had the characteristic appearance of pituitary gigantism with coarse facial features, macrocephaly, frontal bossing, prominent jaw, broadening of the nose and enlarged intra- dental separation. His hands and feet were large with thick fingers and toes (length of feet 33 cm, length of hands 23 cm). His auxological features are reported in Table 1. The patient also presented two irregular caje-au-lait skin spots on his thighs and abdomen. There was no family history of tall stature (father 169.5 cm, mother 157.1 cm) or any endo- crine diseases. His parents were aware that he had been taller than his peers since early childhood, but truly excessive growth began while the patient was still attending primary school (7 years old). During this period he also presented abnormal weight gain. RESULTS Magnetic resonance imaging (MRI) of the brain on admission revealed a voluminous, intra-juxta sellar mass (longitudinal diameter 2.5 cm) with two calciferous areas in the centre. The optic chiasma KEY WORDS: gigantism, McCune-Albright syndrome, pituitary adenoma, growth hormone VOLUME 22, NO. 2,2009 177 Brought to you by | University of California - San Francisco Authenticated Download Date | 2/19/15 6:39 PM