The genetic causes of pituitary gigantism

in Endocrine Abstracts (2015, May)

Recurrence of GH-secreting pituitary adenoms during puberty in children with germline AIP mutations : a clinical challenge

in Endocrine Abstracts (2015, May)

X-linked acro-gigantism (X-LAG) : A new form of infant-onset pituitary gigantism

in Endocrine Abstracts (2015, May)

Gigantism, acromegaly, and GPR101 mutations.

in New England Journal of Medicine (2015), 372(13), 1265

Disease characteristics of patients with X-linked acrogigantism (X-LAG) syndrome

in Abstract book - ENDO 2015 (2015, March)

Congenital gigantism in a girl with anterior pituitary hyperplasia : a new genes for a new disease

in Abstract book - 43ème Congrès Annuel de la Société Belge de Pédiatrie (2015, March)

Characteriation of GPR101 expression across different species

in Abstract book - ENDO 2015 (2015, March)

Intérêt du signal T2 des adénomes hypophysaires à GH traités par analogues de la somatostatine - premiers résultats de l'étude IRMA#2

in Symposium "Perspectives in Endocrinology" - 5ème édition (2015, February 07)

T2-weighted MRI signal intensity of pituitary adenomas in acromegaly correlates with the response to primary medical therapy with somatostatin analogues

in Abstract book - 4th ENEA Workshop (2015)

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

in Endocrine-Related Cancer (2015)

Despite being a classical growth disorder, pituitary gigantism has not been studied previously in a standardized way. We performed a retrospective, multicenter, international study to characterize a large ... [more ▼]

Despite being a classical growth disorder, pituitary gigantism has not been studied previously in a standardized way. We performed a retrospective, multicenter, international study to characterize a large series of pituitary gigantism patients. We included 208 patients (163 males; 78.4%) with growth hormone excess and current/previous abnormal growth velocity for age or final height >2SD above country normal means. The median onset of rapid growth was 13.0 years and occurred significantly earlier in females than in males; pituitary adenomas were diagnosed earlier in females than males (15.8 vs. 21.5 years, respectively). Adenomas were >/=10 mm (i.e. macroadenomas) in 84%, of which extrasellar extension occurred in 77% and invasion in 54%. GH/IGF-1 control was achieved in 39% during long-term follow-up. Final height was greater in those with younger age of onset, with larger tumors and higher GH levels. Later disease control was associated with a greater difference from mid-parental height (r=0.23, P=0.02). AIP mutations occurred in 29%; microduplication at Xq26.3 -X-linked acro-gigantism (X-LAG)- occurred in two familial isolated pituitary adenoma (FIPA) kindreds and in ten sporadic patients. Tumor size was not different in X-LAG, AIP mutated and genetically-negative patient groups. AIP-mutated and X-LAG patients had significantly younger age at onset and diagnosis, but disease control was worse in genetically-negative cases. Pituitary gigantism patients are characterized by male predominance and large tumors that are difficult to control. Treatment delay increases final height and symptom burden. AIP mutations and X-LAG explain many cases, but no genetic etiology is seen in >50% of cases. [less ▲]