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X-linked acrogigantism syndrome: clinical profile and therapeutic responses
Albert Beckers1, Maya Beth Lodish1, Giampaolo Trivellin1
1Department of EndocrinologyCentre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, BelgiumProgram on Developmental Endocrinology and GeneticsSection on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, Maryland 20892-1862, USAHelmholtz Zentrum MünchenInstitute of Pathology, Neuherberg, GermanyDepartment of Molecular and Human GeneticsBaylor College of Medicine, Houston, Texas, USADepartment of Pediatric Endocrinology and DiabetesPrincess Margaret Hospital for Children, Subiaco, Western Australia, AustraliaDepartment of Clinical GeneticsCentre Hospitalier Universitaire de Liège, University of Liège, Liège, BelgiumEndocrinology and Diabetology UnitFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Department of Clinical Sciences and Community Health, University of Milan, Milan, ItalyDepartment of EndocrinologyUniversity of Brasilia, Brasilia, BrazilDepartment of Paediatric EndocrinologyRoyal Victoria Infirmary, Newcastle University, Newcastle upon Tyne, UKINSERM U 693GHU Paris-Sud - Hôpital de Bicêtre, 78 rue du Général Leclerc, 94270 Le Kremlin-Bicêtre, FrancePediatric Endocrinology UnitUniversité Catholique de Louvain, Bruxelles, BelgiumMater Medical Research InstituteUniversity of Queensland, Brisbane, Queensland, AustraliaDepartment of EndocrinologyKEM Hospital, Mumbai, IndiaEndocrinology and Diabetes UnitBC Children's Hospital, Vancouver, British Columbia, CanadaSection of EndocrinologyDepartment of Medical Sciences, University of Ferrara, Ferrara, ItalyService d'Anatomie et Cytologie PathologiquesHopital Foch, Suresnes, FranceINSERM Unité 1016Institut Cochin, Hopital Cochin, Université Paris Descartes, Paris, FranceInstitute of Pediatric EndocrinologyEndocrinological Research Centre, Moscow
Abstract:
X-linked acrogigantism (X-LAG) is a new syndrome of pituitary gigantism, caused by microduplications on chromosome Xq26.3, encompassing the gene GPR101, which is highly upregulated in pituitary tumors. We conducted this study to explore the clinical, radiological, and hormonal phenotype and responses to therapy in patients with X-LAG syndrome. The study included 18 patients (13 sporadic) with X-LAG and microduplication of chromosome Xq26.3. All sporadic cases had unique duplications and the inheritance pattern in two families was dominant, with all Xq26.3 duplication carriers being affected. Patients began to grow rapidly as early as 2-3 months of age (median 12 months). At diagnosis (median delay 27 months), patients had a median height and weight standard deviation scores (SDS) of >+3.9 SDS. Apart from the increased overall body size, the children had acromegalic symptoms including acral enlargement and facial coarsening. More than a third of cases had increased appetite. Patients had marked hypersecretion of GH/IGF1 and usually prolactin, due to a pituitary macroadenoma or hyperplasia. Primary neurosurgical control was achieved with extensive anterior pituitary resection, but postoperative hypopituitarism was frequent. Control with somatostatin analogs was not readily achieved despite moderate to high levels of expression of somatostatin receptor subtype-2 in tumor tissue. Postoperative use of adjuvant pegvisomant resulted in control of IGF1 in all five cases where it was employed. X-LAG is a new infant-onset gigantism syndrome that has a severe clinical phenotype leading to challenging disease management.
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