Pituitary gigantism: a case series from Hospital de San José (Bogotá, Colombia)

Archives of Endocrinology and Metabolism
William Rojas GarcíaAndrés Florez Romero

Abstract

Gigantism is a rare pediatric disease characterized by increased production of growth hormone (GH) before epiphyseal closure, that manifests clinically as tall stature, musculoskeletal abnormalities, and multiple comorbidities. Case series of 6 male patients with gigantism evaluated at the Endocrinology Service of Hospital de San José (Bogotá, Colombia) between 2010 and 2016. All patients had macroadenomas and their mean final height was 2.01 m. The mean age at diagnosis was 16 years, and the most common symptoms were headache (66%) and hyperhidrosis (66%). All patients had acral changes, and one had visual impairment secondary to compression of the optic chiasm. All patients underwent surgery, and 5 (83%) required additional therapy for biochemical control, including radiotherapy (n = 4, 66%), somatostatin analogues (n = 5, 83%), cabergoline (n = 3, 50%), and pegvisomant (n = 2, 33%). Three patients (50%) achieved complete biochemical control, while 2 patients showed IGF-1 normalization with pegvisomant. Two patients were genetically related and presented a mutation in the aryl hydrocarbon receptor-interacting protein (AIP) gene (pathogenic variant, c.504G>A in exon 4, p.Trp168*), fulfilling the diagnostic criteria of familial...Continue Reading

References

Feb 1, 1994·Neurosurgery·E H DyerP Derome
Nov 4, 2000·The Journal of Clinical Endocrinology and Metabolism·G BarrandeJ Bertherat
Aug 3, 2005·European Journal of Endocrinology·M RixB Brock-Jacobsen
Jun 22, 2006·The Journal of Clinical Endocrinology and Metabolism·A F DalyA Beckers
Apr 12, 2007·Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association·K MüssigS Petersenn
May 22, 2008·The Journal of Clinical Endocrinology and Metabolism·Naila GoldenbergAriel Barkan
Nov 4, 2009·Endocrinología y nutrición : órgano de la Sociedad Española de Endocrinología y Nutrición·Carmen Fajardo-MontañanaAlbert Beckers
Jun 24, 2010·Trends in Endocrinology and Metabolism : TEM·Harvinder S ChahalMárta Korbonits
Feb 18, 2011·The Journal of Clinical Endocrinology and Metabolism·Laure SandretPhilippe Chanson
Feb 26, 2011·Clinical and Translational Science·Federica Guaraldi, Roberto Salvatori
Jul 15, 2011·European Journal of Endocrinology·Maria A TichomirowaAlbert Beckers
May 23, 2012·Clinical Endocrinology·Márta KorbonitsAjith V Kumar
Feb 15, 2014·Hormone Research in Pædiatrics·Federica GuaraldiMartin O Savage
Oct 31, 2014·The Journal of Clinical Endocrinology and Metabolism·Laurence KatznelsonJohn A H Wass
Nov 6, 2014·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Pamela U FredaA J van der Lely
Dec 4, 2014·The New England Journal of Medicine·Giampaolo TrivellinConstantine A Stratakis
Feb 26, 2015·Endocrine-related Cancer·Albert BeckersConstantine A Stratakis
Feb 27, 2015·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Hiren P PattNalini S Shah
Nov 18, 2015·Current Opinion in Endocrinology, Diabetes, and Obesity·Maya B LodishConstantine A Stratakis
Nov 21, 2015·Annales d'endocrinologie·Liliya RostomyanAlbert Beckers
Feb 18, 2016·Journal of Pediatric Endocrinology & Metabolism : JPEM·Ana L Creo, Aida N Lteif
Sep 23, 2016·Growth Hormone & IGF Research : Official Journal of the Growth Hormone Research Society and the International IGF Research Society·Fady Hannah-ShmouniConstantine A Stratakis

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.