ECE2018 ePoster Presentations Pituitary and Neuroendocrinology (36 abstracts)
Rare combination of Acromegaly and Klinefelter syndrome
Ivana Sagova 1, , Dusan Pavai 1 , Matej Stancik 2 , Daniela Kantarova 2 , Helena Urbankova 1 , Juliana Gregova 1 , Anton Vanuga 1, & Peter Vanuga 1
1National Institute of Endocrinology and Diabetology, Lubochna, Slovakia; 2Department of Internal MedicineI, University Hospital, Martin, Slovakia; 3AlphaMedical, Lubochna, Slovakia.
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 I (IGF-I) levels accompanying this disease is associated with complications such as heart failure, cerebrovascular disease, diabetes mellitus, sleep apnoea and arthropathy. Incidence of acromegaly is 3-5 patients per million per year. Klinefelter syndrome is the most common sex chromosome disorder occuring in about 1/500 live male births. Common physical features include tall stature, reduced muscle tone, small testes, delayed pubertal development, lack of secondary male sex characteristics and gynecomastia. We present a 31-year-old man suffering from both acromegaly and 47, XXY Klinefelter syndrome (KS). The patient was admitted to our Institute with typical acromegalic features. Laboratory tests revealed high level of GH which was not suppressed after glucose administration, high level of IGF-1, low testosterone concentration with high concentation of gonadotropines. 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. The rare finding of the combination of Acromegaly and Klinefelter syndrome suggests the need for rigorous examination of each patient by a “clear” endocrinopathy.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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