Research & Literature

Hydrocephalus and hypothalamic involvement in pediatric patients with craniopharyngioma or cysts of Rathke's pouch: impact on long-term prognosis.

Daubenbüchel AM, Hoffmann A, Gebhardt U, et al.

European journal of endocrinology 2015; (172(5)):561-9 doi:10.1530/EJE-14-1029.

X-linked acrogigantism syndrome: clinical profile and therapeutic responses.

Beckers A, Lodish MB, Trivellin G, et al.

Endocrine-related cancer 2015; (22(3)):353-67 doi:10.1530/ERC-15-0038.

Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients.

Rostomyan L, Daly AF, Petrossians P, et al.

Endocrine-related cancer 2015; (22(5)):745-57 doi:10.1530/ERC-15-0320.

Pituitary gigantism: update on molecular biology and management.

Lodish MB, Trivellin G, Stratakis CA

Current opinion in endocrinology, diabetes, and obesity 2016; (23(1)):72-80 doi:10.1097/MED.0000000000000212.

Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome.

Naves LA, Daly AF, Dias LA, et al.

Endocrine 2016; (51(2)):236-44 doi:10.1007/s12020-015-0804-6.

GHRH excess and blockade in X-LAG syndrome.

Daly AF, Lysy PA, Desfilles C, et al.

Endocrine-related cancer 2016; (23(3)):161-70 doi:10.1530/ERC-15-0478.

Pituitary gigantism: a retrospective case series.

Creo AL, Lteif AN

Journal of pediatric endocrinology & metabolism : JPEM 2016; (29(5)):597-602.

Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects.

Daly AF, Yuan B, Fina F, et al.

Endocrine-related cancer 2016; (23(4)):221-33 doi:10.1530/ERC-16-0082.

Somatic GPR101 Duplication Causing X-Linked Acrogigantism (XLAG)-Diagnosis and Management.

Rodd C, Millette M, Iacovazzo D, et al.

The Journal of clinical endocrinology and metabolism 2016; (101(5)):1927-30 doi:10.1210/jc.2015-4366.

Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.

Iacovazzo D, Caswell R, Bunce B, et al.

Acta neuropathologica communications 2016; (4(1)):56 doi:10.1186/s40478-016-0328-1.

Childhood acromegaly due to X-linked acrogigantism: long term follow-up.

Gordon RJ, Bell J, Chung WK, et al.

Pituitary 2016; (19(6)):560-564 doi:10.1007/s11102-016-0743-0.

Gigantism: X-linked acrogigantism and GPR101 mutations.

Iacovazzo D, Korbonits M

Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society 2016; (30-31()):64-69 doi:10.1016/j.ghir.2016.09.007.

X-LAG: How did they grow so tall?

Beckers A, Rostomyan L, Potorac I, et al.

Annales d'endocrinologie 2017; (78(2)):131-136 doi:10.1016/j.ando.2017.04.013.

A retrospective review of 34 cases of pediatric pituitary adenoma.

Zhang N, Zhou P, Meng Y, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2017; (33(11)):1961-1967 doi:10.1007/s00381-017-3538-3.

Pediatric Pituitary Adenoma: Case Series, Review of the Literature, and a Skull Base Treatment Paradigm.

Perry A, Graffeo CS, Marcellino C, et al.

Journal of neurological surgery. Part B, Skull base 2018; (79(1)):91-114 doi:10.1055/s-0038-1625984.

An orphan G-protein-coupled receptor causes human gigantism and/or acromegaly: Molecular biology and clinical correlations.

Trivellin G, Hernández-Ramírez LC, Swan J, Stratakis CA

Best practice & research. Clinical endocrinology & metabolism 2018; (32(2)):125-140 doi:10.1016/j.beem.2018.02.004.

Sporadic pituitary adenomas: the role of germline mutations and recommendations for genetic screening.

Iacovazzo D, Hernández-Ramírez LC, Korbonits M

Expert review of endocrinology & metabolism 2017; (12(2)):143-153 doi:10.1080/17446651.2017.1306439.

[Pituitary adenomas].

Honegger J, Nasi-Kordhishti I, Giese S

Der Nervenarzt 2019; (90(6)):568-577 doi:10.1007/s00115-019-0708-4.

Familial X-Linked Acrogigantism: Postnatal Outcomes and Tumor Pathology in a Prenatally Diagnosed Infant and His Mother.

Wise-Oringer BK, Zanazzi GJ, Gordon RJ, et al.

The Journal of clinical endocrinology and metabolism 2019; (104(10)):4667-4675 doi:10.1210/jc.2019-00817.

Clinical Relevance of Genetic Analysis in Patients With Pituitary Adenomas: A Systematic Review.

van den Broek MFM, van Nesselrooij BPM, Verrijn Stuart AA, et al.

Frontiers in endocrinology 2019; (10()):837 doi:10.3389/fendo.2019.00837.

A Chinese Case of X-Linked Acrogigantism and Systematic Review.

Liang H, Gong F, Liu Z, et al.

Neuroendocrinology 2021; (111(12)):1164-1175 doi:10.1159/000512240.

Genetics of Acromegaly and Gigantism.

Bogusławska A, Korbonits M

Journal of clinical medicine 2021; (10(7)) doi:10.3390/jcm10071377.

Magnetic resonance imaging of the hypothalamo-pituitary region.

Perosevic M, Jones PS, Tritos NA

Handbook of clinical neurology 2021; (179()):95-112 doi:10.1016/B978-0-12-819975-6.00004-2.

Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism.

Franke M, Daly AF, Palmeira L, et al.

American journal of human genetics 2022; (109(4)):553-570 doi:10.1016/j.ajhg.2022.02.002.

Effective Long-term Pediatric Pegvisomant Monotherapy to Final Height in X-linked Acrogigantism.

Burren CP, Williams G, Coxson E, Korbonits M

JCEM case reports 2023; (1(3)):luad028 doi:10.1210/jcemcr/luad028.

Pediatric sellar teratoma - Case report and review of the literature.

Kürner K, Greuter L, Roethlisberger M, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2024; (40(4)):1259-1270 doi:10.1007/s00381-024-06296-w.

Case report: Management of pediatric gigantism caused by the TADopathy, X-linked acrogigantism.

Caruso M, Mazzatenta D, Asioli S, et al.

Frontiers in endocrinology 2024; (15()):1345363 doi:10.3389/fendo.2024.1345363.

The Genetic Pathophysiology and Clinical Management of the TADopathy, X-Linked Acrogigantism.

Daly AF, Beckers A

Endocrine reviews 2024; (45(5)):737-754 doi:10.1210/endrev/bnae014.

Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus.

Daly AF, Dunnington LA, Rodriguez-Buritica DF, et al.

Genome medicine 2024; (16(1)):112 doi:10.1186/s13073-024-01378-5.

Non-penetrant Xq26.3 duplication involving the invariant TAD border: clinical evidence for the VGLL1 region as the GPR101 pituitary enhancer of X-linked acrogigantism.

Hilditch C, Curtis S, Cotton S, et al.

Pituitary 2025; (28(4)):85 doi:10.1007/s11102-025-01559-4.

Mammosomatotroph pituitary neuroendocrine tumour in a 7-year-old boy: case report.

Lin W, Qiu Y, Ma Z, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2026; (42(1)).

Genetics of familial acromegaly and pituitary gigantism.

De Sousa SMC, Daly AF

The Journal of clinical endocrinology and metabolism 2026; (111(Supplement_1)):S13-S26 doi:10.1210/clinem/dgag151.

Burosumab use in fibroblast growth factor-23-mediated hypophosphatemia in McCune-Albright syndrome/fibrous dysplasia.

Alsayed Hasan M, Al Mukaddam M

JCEM case reports 2026; (4(6)):luag086 doi:10.1210/jcemcr/luag086.