The combination of acromegaly and Klinefelter syndrome in one patient

Česká verze

Authors: Ivana Ságová ¹; Dušan Pávai ²; Daniela Kantárová ¹; Anton Vaňuga ^2,3; Jurina Sadloňová ¹; Peter Vaňuga ²; Milan Dragula ¹
Authors place of work: I. interná klinika JLF UK a UNM, Martin, Slovenská republika ¹; Endokrinologické oddelenie Národného endokrinologického a diabetologického ústavu Ľubochňa, Slovenská republika ²; Alphamedical, s. r. o., Bratislava, Slovenská republika ³
Published in the journal: Vnitř Lék 2019; 65(1): 51-54
Category: Kazuistiky

Summary

Acromegaly is a rare disorder usually caused by a benign tumour of the pituitary gland. Long-term presence of elevated growth hormone (GH) and insulin like growth factor 1 (IGF1) levels accompanying this disease is associated with complications such as cardiomyopathy, diabetes mellitus, sleep apnoea and arthropathy. Incidence of acromegaly is 3–4 patients per million per year. Klinefelter syndrome (KS) is the most common sex chromosome disorder occuring in about 1/500 live male births. Common physical features include particularly small testes, among other symptoms are tall stature, reduced muscle tone, delayed pubertal development, lack of secondary male sex characteristics and gynecomastia. We present a 32-year-old man suffering from both acromegaly and 47, XXY Klinefelter syndrome. The patient with typical acromegalic features. Laboratory tests revealed high level of GH which was not suppressed after glucose administration, high level of IGF1, low testosterone concentration with high concentation of luteinizing hormone and follicle stimulating hormone. A magnetic resonance imaging scan revealed a 25 × 18 × 18 mm macroadenoma involving the pituitary gland. A diagnosis of acromegaly was established. After this examination trans-sphenoidal resection was performed. Histopathologic and immunohistochemical findings revealed growth hormoneproducing pituitary adenoma. The presence of infertility with clinical features such as small testes, lack of secondary male sex characteristics and laboratory findings revealed hypergonadotropic hypogonadism that could not be explained by the diagnosis of acromegaly. A chromosomal karyotyping revealed a 47, XXY, confirming the diagnosis of KS. Testosterone replacement therapy wasn´t begun because of patient disagreement Postoperatively elevated plasma concentration of GH and IGF1 levels persist. Treatment by somatostatin analogues (lanreotid) was initiated at dose 120 mg every 28 days. Control magnetic resonance imaging of the sella demonstrated a residue of pituary adenoma size 14 × 14 × 7 mm. The patient is currently undergoing endoscopic revision of the residue.

acromegaly –⁠ growth hormone –⁠ IGF1 –⁠ Klinefelter syndrome –⁠ testosterone

Zdroje

Groth KA, Skakkebaek A, Host C et al. Clinical review: Klinefelter syndrome –⁠ a clinical update. J Clin Endocrinol Metab 2013; 98(1): 20–30. Dostupné z DOI: <http://dx.doi.org/10.1210/jc.2012–2382>.
Benaiges D, Pedro-Botet J, Hernandez E et al. Different clinical presentation of Klinefelter‘s syndrome in monozygotic twins. Andrologia 2015; 47(1): 116–120. Dostupné z DOI: <http://dx.doi.org/10.1111/and.12219>.
Sabir AA, Zagga AD, Sahabi SM et al. Klinefelter‘s syndrome: report of a case from Sokoto, Northern Nigeria and review of literature. Sahel Med J 2013; 16(1): 32–34. Dostupné z DOI: <http://dx.doi.org/10.4103/1118–8561.112070>.
Marek J, Hana V et al. Endokrinologie. Galén: Praha 2017. ISBN 978–80–7262–484–3.
Ottesen AM, Aksglaede L, Garn I et al. Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy. Am J Med Genet A 2010; 152A(5): 1206–1212. Dostupné z DOI: <http://dx.doi.org/10.1002/ajmg.a.33334>.
Abramsky L, Chapple J. 47,XXY (Klinefelter syndrome) and 47, XYY: estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling. Prenat Diagn 1997; 17(4): 363–368.
Veselý O. Opoždená puberta a gynekomastie jako projev Klinefelterova syndromu. Pediatr Praxi 2017; 18(2): 131–134.
Germine LD. Klinefelter syndrome clinical presentation. History, Physical, Causes. MedScape 2018. Dostupné z WWW: https://emedicine.medscape.com/article/945649-clinical.
Liberato D, Granato S, Grimaldi D et al. Intelligence, traits of personality and personality disorders in a cohort of adult KS patients with the classic 47, XXY karyotype. J Endocrinol Invest 2017; 40(11): 1191–1199. Dostupné z DOI: <http://dx.doi.org/10.1007/s40618–017–0674–2>.
Kontogeorgos G, Kovacs K, Horvath E et al. Null cell adenomas, oncocytomas, and gonadotroph adenomas of the human pituitary: An immunocytochemical and ultrastructural anafysis of 300 cases. Endocr Pathol 1993; 4 : 20. Dostupné z DOI: <https://doi.org/10.1007/BF02914485>.
Capatina C, Wass JH. 60 Years Of Neuroendocrinology: Acromegaly. J Endocrinol 2015; 226(2): 141–160. Dostupné z DOI: <http://dx.doi.org/10.1530/JOE-15–0109>.
Roelfsema F. Treatment of acromegaly: Are we satisfied with the outcome? EBioMedicine 2014; 2(1): 5–6. Dostupné z DOI: <http://dx.doi.org/10.1016/j.ebiom.2014.12.010>.
Biju Baby J, Veena SN, Jaishankar HP et al. Acromegaly –⁠ a case report. J Clin Biomed Sci 2012; 4(1): 247–250.
Melmed S, Colao A, Barkan A et al. Guidelines for acromegaly management: an update. J Clin Endocrinol Metab 2009; 94(5): 1509–1517. Dostupné z DOI: <http://dx.doi.org/10.1210/jc.2008–2421>.