Growth hormone-prolactin-thyrotropin-secreting pituitary adenoma in atypical McCune-Albright syndrome with functionally normal Gs alpha protein

1994 ◽  
Vol 79 (4) ◽  
pp. 1128-1134 ◽  
Author(s):  
A. Gessl
Keyword(s):  
Growth Hormone ◽  
Pituitary Adenoma ◽  
Mccune Albright Syndrome ◽  
Albright Syndrome ◽  
Gs Alpha ◽  
Mccune Albright

Gs alpha mutation at codon 201 in pituitary adenoma causing gigantism in a 6-year-old boy with McCune-Albright syndrome.

1996 ◽  
Vol 81 (11) ◽  
pp. 3839-3842
Author(s):  
J Dötsch ◽  
W Kiess ◽  
J Hänze ◽  
R Repp ◽  
D Lüdecke ◽  
...  
Keyword(s):  
Pituitary Adenoma ◽  
Mccune Albright Syndrome ◽  
Albright Syndrome ◽  
Gs Alpha ◽  
Mccune Albright

scholarly journals Short stature and growth hormone deficiency: unexpected manifestations of McCune-Albright syndrome

2018 ◽  
pp. bcr-2018-225709
Author(s):  
Yordanka Pina Rivera ◽  
Godfrey Mutashambara Rwegerera ◽  
Sheikh Sesay
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Short Stature ◽  
Hormone Deficiency ◽  
Mccune Albright Syndrome ◽  
Albright Syndrome ◽  
Mccune Albright

scholarly journals Modern views on the genetic determinism of GH-secreting pituitary adenomas (literature review and own data)

2021 ◽  
Vol 17 (1) ◽  
pp. 11-19
Author(s):  
R. Nikolaiev ◽  
L. Rostomyan ◽  
A. Beckers ◽  
O. Khyzhnyak ◽  
M. Mykytyuk ◽  
...  
Keyword(s):  
Pituitary Adenoma ◽  
Genetic Analysis ◽  
Pituitary Adenomas ◽  
Young Age ◽  
Mccune Albright Syndrome ◽  
Men1 Gene ◽  
Men 1 ◽  
Albright Syndrome ◽  
Aip Gene ◽  
Mccune Albright

Background. This article presents a review of the current literature on the role of the genetic component in the etiology and pathogenesis of hormone-active pituitary adenomas secreting growth hormone (GH) and clinically manifesting by acromegaly and/or gigantism (multiple endocrine neoplasia 1 (MEN-1), McCune-Albright syndrome, Carney complex, X-linked acrogigantism (X-LAG), familial isolated pituitary adenoma — FIPA). Materials and methods. To identify mutations in the AIP gene and to verify FIPA, 26 patients of the Ukrainian population (19 women and 7 men) were examined in whom acromegaly was diagnosed in adolescence or young age, and genetic analysis was performed. To determine the genetic determinism in the development of GH-secreting pituitary adenoma and differential diagnosis of FIPA and MEN-1 syndromes by sequencing method (MLPA — ligation-dependent probe amplification), the genes MLPA, P244-C1 were studied involving exons 1–6 MEN1 gene, (MLPA, P017-D1) AIP gene. Results. Among those examined, only two patients had AIP gene mutations. In one patient, genetic screening for MEN1 gene mutation was negative and no clinical symptoms suggestive of McCune-Albright syndrome were detected. A variant heterozygous missense c.714C>G (p.Cys238Trp) was found in the AIP gene. This AIP gene assay is compatible with a genetic predisposition to develop pituitary adenoma. The offspring of this patient has a 50% chance of inheriting this variant, acromegaly, hypersomatotropinemia, MEN-1 syndrome, familial isolated pituitary adenoma. Another patient was diagnosed with MEN syndrome type 1 (Wermer syndrome): insulinoma, parathyroid gland adenomas (2), primary hyperparathyroidism with a heterozygous c.134A>G variant (p.Glu45Gly) found in the MEN1 gene. The presence of the c.l34A>G (p.Glu45Gly) class variant 4 is likely to be pathogenic. The prevalence of this variant in the general population is unknown, so it is very rare. Conclusions. The genetic analysis is appropriate in pediatric and young patients or those with GH-secreting macro/giant pituitary adenoma diagnosed at a young age (under 35), regardless of family history. In patients with a history of a disease, genetic analysis is recommended in any case to identify FIPA and to predict the further course of the disease and the effectiveness of treatment with somatostatin analogues.

scholarly journals Pegvisomant for the Treatment of gsp-Mediated Growth Hormone Excess in Patients with McCune-Albright Syndrome

2006 ◽  
Vol 91 (8) ◽  
pp. 2960-2966 ◽  
Author(s):  
Sunday O. Akintoye ◽  
Marilyn H. Kelly ◽  
Beth Brillante ◽  
Natasha Cherman ◽  
Sarah Turner ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Mccune Albright Syndrome ◽  
Albright Syndrome ◽  
Mccune Albright
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