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acromegaly

Acromegaly

Acromegaly is characterized by GH and IGF-1 hypersecretion, and GH and IGF-1 play important roles in regulating body composition and glucose homeostasis.

History

Pierre Marie coined the term 'acromegaly' in 1886 and linked this to a distinct clinical disease with a characteristic clinical picture. However, Pierre Marie was not the first physician to give a full record of the clinical picture of acromegaly, but others had preceded him, like the Dutch physician Johannes Wier.

After Marie, pituitary enlargement was noted in almost all patients with acromegaly. Subsequently it was discovered that pituitary hyperfunction caused by a pituitary tumour was indeed the cause of acromegaly.

Epidemiology

An increased rate of acromegaly was reported in industrialized areas, suggesting an involvement of environmental pollutants in the pathogenesis and behavior of GH secreting pituitary adenomas 1).

Etiology

The cause of acromegaly could be determined after the discovery of growth hormone (GH) and insulin-like growth factor I (IGF-I) and demonstrating an association with GH hypersecretion and elevated circulating IGF-I. Usually caused by pituitary adenomas.

In > 95 % of cases GH secreting pituitary adenoma.

In >75 % macroadenomas with cavernous sinus invasion and/or suprasellar extension.

A duplication event in GPR101 is implicated in cases of gigantism and acromegaly.

AHR gene rs2066853 polymorphism is significantly more frequent in acromegalic patients than in healthy subjects, regardless of gender, pituitary tumor size, age at diagnosis and prevalence of colonic tumours and is associated with increased disease aggresivity. Moreover, the rs4986826 variant was detected in few patients with rs2066853 polymorphism, but its role is to be cleared 2).

Pituitary carcinomas are exceedingly rare. Extremely infrequently acromegaly occurs as a result of ectopic secretion of growth hormone releasing hormone (GHRH) from a peripheral neuroendocrine tumour, or from excessive hypothalamic GHRH secretio. Approximately 5% of cases are associated with familial syndromes, most commonly multiple endocrine neoplasia type 1 (MEN1) syndrome, but also McCune Albright syndrome, familial acromegaly, Carney’s syndrome and Familial Isolated Pituitary Adenoma (FIPA) 3).


Co-secretion of growth hormone (GH) and prolactin (PRL) from a single pituitary adenoma is common. In fact, up to 25% of patients with acromegaly may have PRL co-secretion. The prevalence of acromegaly among patients with a newly diagnosed prolactinoma is unknown. Given the possibility of mixed GH and PRL co-secretion, the current recommendation is to obtain an insulin-like growth factor-1 (IGF-1) in patients with prolactinoma at the initial diagnosis. Long-term follow-up of IGF-1 is not routinely done 4).

Clinical features

Diagnosis

Treatment

Outcome

The clinical complications involving cardiovascular, respiratory, and metabolic systems lead to elevated morbidity in acromegaly.

Control of serum growth hormone GH and insulin like growth factor (IGF) 1 hypersecretion by surgery or pharmacotherapy can decrease morbidity 5).

Medical therapy for acromegaly may lead to decreased symptoms of sleep apnea 6).

Outcomes of transsphenoidal surgery for acromegaly by experienced pituitary surgeons do not differ between endoscopic and microscopic techniques. Regardless of the mode of resection, patients with high preoperative GH levels and Knosp classification scores are less likely to achieve remission. An immediate postoperative GH level of less than 1.15 ng/mL provides the best immediate predictor of remission, but long-term outcomes are indicated 7).


Even if treated, acromegaly has a considerable impact on patient quality of life (QoL); despite this, the exact clinical determinants of QoL in acromegaly are unknown. A study retrospectively examines a cohort of treated patients with acromegaly, with the aim of identifying these determinants.

Diagnostic delay and lack of diagnostic acumen in medical care provision are strong predictors of poor QoL in patients with acromegaly. Other identified parameters are radiotherapy, age, BMI and employment status. An efficient acromegaly service should address these aspects when devising disease management plans 8).

Books

MRI of the Pituitary Gland By Jean-François Bonneville, Fabrice Bonneville, Françoise Cattin, Sonia Nagi

This clinically oriented book will familiarize the reader with all aspects of the diagnosis of tumors and other disorders of the pituitary gland by means of magnetic resonance imaging (MRI). The coverage includes acromegaly, Cushing’s disease, Rathke cleft cysts, prolactinomas, incidentalomas, Clinically nonfunctioning pituitary adenomas, other lesions of the sellar region, hypophysitis, and central diabetes insipidus. Normal radiologic anatomy and the numerous normal variants are described, and guidance is also provided on difficulties, artifacts, and other pitfalls. The book combines concise text and high-quality images with a question and answer format geared toward the needs of the practitioner. MRI is today considered the cornerstone in the diagnosis of diseases of the hypophyseal-hypothalamic region but the relatively small size of the pituitary gland, its deep location, the many normal anatomic variants, and the often tiny size of lesions can hinder precise evaluation of the anatomic structures and particularly the pituitary gland itself. Radiologists and endocrinologists will find MRI of the Pituitary Gland to be full of helpful information on this essential examination, and the book will also be of interest to internists and neurosurgeons.

Case series

1)
Fortunati N, Guaraldi F, Zunino V, Penner F, D'Angelo V, Zenga F, Pecori Giraldi F, Catalano MG, Arvat E. Effects of environmental pollutants on signaling pathways in rat pituitary GH3 adenoma cells. Environ Res. 2017 Jul 18;158:660-668. doi: 10.1016/j.envres.2017.07.015. [Epub ahead of print] PubMed PMID: 28732322.
2)
Cannavò S, Ferraù F, Ragonese M, Romeo PD, Torre ML, Puglisi S, De Menis E, Arnaldi G, Salpietro C, Cotta OR, Albani A, Ruggeri RM, Trimarchi F. Increased frequence of the rs2066853 variant of aryl hydrocarbon receptor gene in patients with acromegaly. Clin Endocrinol (Oxf). 2014 Feb 13. doi: 10.1111/cen.12424. [Epub ahead of print] PubMed PMID: 24521362.
3)
Carroll PV, Jenkins PJ. Acromegaly. In: De Groot LJ, Beck-Peccoz P, Chrousos G, Dungan K, Grossman A, Hershman JM, Koch C, McLachlan R, New M, Rebar R, Singer F, Vinik A, Weickert MO, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000-. Available from http://www.ncbi.nlm.nih.gov/books/NBK279097/ PubMed PMID: 25905322.
4)
Manuylova E, Calvi LM, Hastings C, Vates GE, Johnson MD, Cave WT Jr, Shafiq I. Late presentation of acromegaly in medically controlled prolactinoma patients. Endocrinol Diabetes Metab Case Rep. 2016;2016. pii: 16-0069. PubMed PMID: 27855229.
5)
Wang JW, Li Y, Mao ZG, Hu B, Jiang XB, Song BB, Wang X, Zhu YH, Wang HJ.Clinical applications of somatostatin analogs for growth hormone-secreting pituitary adenomas. Patient Prefer Adherence. 2014 Jan 6;8:43-51. eCollection 2014. Review. PubMed PMID: 24421637; PubMed Central PMCID: PMC3888346.
6)
Grunstein RR, Ho KK, Sullivan CE. Effect of octreotide, a somatostatin analog, on sleep apnea in patients with acromegaly. Ann Intern Med. 1994;121:478-483.
7)
Starke RM, Raper DM, Payne SC, Vance ML, Oldfield EH, Jane JA Jr. Endoscopic vs microsurgical transsphenoidal surgery for acromegaly: outcomes in a concurrent series of patients using modern criteria for remission. J Clin Endocrinol Metab. 2013 Aug;98(8):3190-8. doi: 10.1210/jc.2013-1036. Epub 2013 Jun 4. PubMed PMID: 23737543.
8)
Kreitschmann-Andermahr I, Buchfelder M, Kleist B, Kohlmann J, Menzel C, Buslei R, Kołtowska-Häggström M, Strasburger C, Siegel S. PREDICTORS OF QUALITY OF LIFE IN 165 PATIENTS WITH ACROMEGALY: RESULTS FROM A SINGLE-CENTER STUDY. Endocr Pract. 2016 Oct 17. PubMed PMID: 27749131.
acromegaly.txt · Last modified: 2019/03/14 12:07 by administrador