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Beckers, A.* ; Lodish, M.* ; Giampaolo, T.* ; Rostomyan, L.* ; Lee, M.S. ; Faucz, F.R.* ; Yuan, B.* ; Choong, C.* ; Caberg, J.H.* ; Verrua, E.* ; Naves, L.A.* ; Cheetham, T.* ; Young, J.* ; Lysy, P.* ; Petrossians, P.* ; Cotterill, A.* ; Shah, N.* ; Metzger, D.* ; Castermans, E.* ; Ambrosio, M.R.* ; Villa, C.* ; Strebkova, N.* ; Mazerkina, N.* ; Gaillard, S.* ; Barcelos Barra, G.* ; Casulari, L.A.* ; Neggers, S.* ; Salvatori, R.* ; Jaffrain-Rea, M.L.* ; Zacharin, M.* ; Lecumberri Santamaria, B.* ; Zacharieva, S.* ; Lim, E.M.* ; Mantovani, G.* ; Zatelli, M.C.* ; Collins, M.T.* ; Bonneville, J.F.* ; Quezado, M.M.* ; Chittiboina, P.* ; Oldfield, E.* ; Bours, V.* ; Liu, P.* ; de Herder, W.W.* ; Pellegata, N.S. ; Lupski, J.R.* ; Daly, A.F.* ; Stratakis, C.A.*

X-Linked Acrogigantism (X-LAG) syndrome: Clinical profile and therapeutic responses.

Endocr. Relat. Cancer 22, 353-367 (2015)
DOI PMC
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
X-linked acro-gigantism (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 a microduplication in chromosome Xq26.3. All sporadic cases had unique duplications and the inheritance pattern in 2 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 SDS score 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/IGF-1 and prolactin, usually 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 somatostatin receptor subtype-2 expression in tumor tissue. Postoperative adjuvant pegvisomant achieved control of IGF-1 all 5 cases in which 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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter Duplication ; Fipa ; Gigantism ; Gpr101 ; Pediatric ; Pituitary Adenoma ; X Chromosome ; X-lag Syndrome; Hormone-releasing-hormone; Mccune-albright Syndrome; Growth-hormone; Pituitary-adenomas; Transgenic Mice; In-vitro; Interacting Protein; Receptor Antagonist; Ectopic Secretion; Gene-expression
ISSN (print) / ISBN 1351-0088
e-ISSN 1479-6821
Zeitschrift Endocrine-Related Cancer
Quellenangaben Band: 22, Heft: 3, Seiten: 353-367 Artikelnummer: , Supplement: ,
Verlag BioScientifica
Verlagsort Bristol
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Pathology (PATH)