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Endocrine Abstracts (2021) 73 S14.1 | DOI: 10.1530/endoabs.73.S14.1

Endocrinology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Department of Clinical Sciences and Community Health, University of Milan; Milan, Italy


According to the WHO classification and to clinical practice most pituitary tumors are benign, although invasion and aggressive behavior, as well as resistance to somatostatin/dopamine (SS/DA) analogs, occur in 25 – 50% of cases. In particular, genetic forms of acrogigantism (X-linked acrogigantism - X-LAG) are characterized by a very precocious and resistant phenotype associated with microduplications in the Xq26.3 region involving the GPR101 gene. The GPR101 gene encodes an orphan G protein-coupled receptor strongly expressed in the human normal pituitary during fetal development as well as in adolescence but not in adult pituitary. The molecular mechanism of pituitary tumorigenesis involves cAMP pathway activation. Indeed, GPR101 is constitutively coupled with stimulatory G proteins, leading to intracellular cAMP accumulation, with direct effects on somatotroph cells proliferation and GH secretion. The pathogenic mechanism may also involve the ability of GPR101 to increase GHRH secretion by hypothalamus, accordingly to the elevated circulating GHRH levels described in some XLAG patients. A young woman, now 24 years-old, has been followed at our Institution since she was 2. At that time, gigantism due to an endo and suprasellar GH-secreting pituitary macroadenoma was diagnosed and she underwent a first trans-sfenoidal neurosurgery at the age of 3. Because of persistent disease, she was treated with first-generation somatostatin analogues associated with cabergoline and then with pegvisomant. At the age of 18 she was operated for the second time but pharmacological treatment was again necessary after surgery. Since then, she was treated with octreotide, cabergoline, pasireotide and pegvisomant. The diagnosis of acrogigantism due to a microduplication in the Xq26.3 region was finally made when she was 18. The talk will describe in detail her clinical history focusing on the multimodal approach. It will also summarize the current knowledge on the clinical presentation and evolution of this rare disease.

Volume 73

European Congress of Endocrinology 2021

Online
22 May 2021 - 26 May 2021

European Society of Endocrinology 

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