X-linked acrogigantism syndrome: clinical profile and therapeutic responses

Beckers, Albert, Lodish, Maya Beth, Trivellin, Giampaolo, Rostomyan, Liliya, Lee, Misu, Faucz, Fabio R., Yuan, Bo, Choong, Catherine S., Caberg, Jean-Hubert, Verrua, Elisa, Naves, Luciana Ansaneli, Cheetham, Tim D., Young, Jacques, Lysy, Philippe A., Petrossians, Patrick, Cotterill, Andrew, Shah, Nalini Samir, Metzger, Daniel, Castermans, Elisa, Ambrosio, Maria Rosaria, Villa, Chiara, Strebkova, Natalia, Mazerkina, Nadia, Gaillard, Strebkova, Barra, Gustavo Barcelos, Casulari, Luis Augusto, Neggers, Sebastian J., Salvatori, Roberto, Jaffrain-Rea, Marie-Lise, Zacharin, Margaret, Santamaria, Beatriz Lecumberri, Zacharieva, Sabina, Lim, Ee Mun, Mantovani, Giovanna, Zatelli, Maria Chaira, Collins, Michael T., Bonneville, Jean-Francois, Quezado, Martha, Chittiboina, Prashant, Oldfield, Edward H., Bours, Vincent, Liu, Pengfei, De Herder, Wouter W., Pellegata, Natalia, Lupski, James R., Daly, Adrian F. and Stratakis, Constantine A. (2015) X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocrine-Related Cancer, 22 3: 353-367. doi:10.1530/ERC-15-0038

Author Beckers, Albert
Lodish, Maya Beth
Trivellin, Giampaolo
Rostomyan, Liliya
Lee, Misu
Faucz, Fabio R.
Yuan, Bo
Choong, Catherine S.
Caberg, Jean-Hubert
Verrua, Elisa
Naves, Luciana Ansaneli
Cheetham, Tim D.
Young, Jacques
Lysy, Philippe A.
Petrossians, Patrick
Cotterill, Andrew
Shah, Nalini Samir
Metzger, Daniel
Castermans, Elisa
Ambrosio, Maria Rosaria
Villa, Chiara
Strebkova, Natalia
Mazerkina, Nadia
Gaillard, Strebkova
Barra, Gustavo Barcelos
Casulari, Luis Augusto
Neggers, Sebastian J.
Salvatori, Roberto
Jaffrain-Rea, Marie-Lise
Zacharin, Margaret
Santamaria, Beatriz Lecumberri
Zacharieva, Sabina
Lim, Ee Mun
Mantovani, Giovanna
Zatelli, Maria Chaira
Collins, Michael T.
Bonneville, Jean-Francois
Quezado, Martha
Chittiboina, Prashant
Oldfield, Edward H.
Bours, Vincent
Liu, Pengfei
De Herder, Wouter W.
Pellegata, Natalia
Lupski, James R.
Daly, Adrian F.
Stratakis, Constantine A.
Title X-linked acrogigantism syndrome: clinical profile and therapeutic responses
Journal name Endocrine-Related Cancer   Check publisher's open access policy
ISSN 1351-0088
Publication date 2015-06-01
Sub-type Article (original research)
DOI 10.1530/ERC-15-0038
Open Access Status Not Open Access
Volume 22
Issue 3
Start page 353
End page 367
Total pages 15
Place of publication Woodlands, Bristol, United Kingdom
Publisher BioScientifica
Language eng
Formatted 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.
Keyword Duplication
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Mater Research Institute-UQ (MRI-UQ)
Official 2016 Collection
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Citation counts: TR Web of Science Citation Count  Cited 40 times in Thomson Reuters Web of Science Article | Citations
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