Hypothalamic amenorrhea in a Camurati-Engelmann disease – a case report†. (May 2013)

• Record Type: Journal Article
• Authors: Meczekalski, Blazej; Czyzyk, Adam; Podfigurna-Stopa, Agnieszka; Rydzewski, Bogdan; Sroczynski, Jakub; Lipinska, Małgorzata; Sokalski, Jerzy; Krawczynski, Maciej; Jamsheer, Aleksander; Katulski, Krzysztof; Genazzani, Alessandro
• Is Part Of: Gynecological endocrinology. Volume 29:Number 5(2013:May)
• Page Start: 511
• Page End: 514
• Publication Date: 2013-05
• Subjects: Endocrine gynecology -- Periodicals; Generative organs, Female -- Diseases -- Periodicals; 618.1
• DOI: 10.3109/09513590.2012.760196
• Languages: English
• ISSNs: 0951-3590

Abstract

<abstract> <title>Abstract</title> <p> <italic>Objective</italic>: A case report of a patient diagnosed with Camurati-Engelmann Disease (CED) in association with the functional hypothalamic amenorrhea disturbances. CED is a very rare genetically determined disorder classified as a type of bone dysplasia.</p> <p> <italic>Design</italic>: Case report.</p> <p> <italic>Setting</italic>: Department of Gynecological Endocrinology, 3rd grade Medical University Hospital.</p> <p> <italic>Patient</italic>: Twenty-one years old female patient with CED admitted to the hospital because of primary amenorrhea. Her history revealed skeletal deformities and hearing impairment.</p> <p> <italic>Methods</italic>: Clinical examination, ultrasound, laboratory evaluations (including serum gonadotropins (FSH, LH) at basal state and after stimulation with gonadotropin-releasing hormone, serum basal estradiol) radiological studies (X-ray of the head, the lumbar spine and lower extremities; a computed tomography of the head), G-banding karyotype, polymerase chain reaction and DNA sequencing. Hormonal serum evaluations were made using an enzyme-linked immunosorbent assay. The exon 4 of the transforming growth factor beta 1 gene was amplified by a polymerase chain reaction and the product was directly sequenced.</p> <p> <italic>Results</italic>: The hormonal analysis was characteristic for the hypogonadotropic hypogonadism. Radiological and molecular analyses confirmed CED diagnosis.</p> <p> <italic>Conclusions</italic>: The hypothalamic amenorrhea in a patient with CED may be explained as a consequence of fat hypotrophy and very low body mass index. Therefore, impairment within hypothalamic-pituitary axis in patients with CED should be treated with special attention.</p> </abstract>