Hypothalamic amenorrhea in a Camurati-Engelmann disease--a case report.
OBJECTIVE
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.


METHODS
Case report.


METHODS
Department of Gynecological Endocrinology, 3rd grade Medical University Hospital.


METHODS
Twenty-one years old female patient with CED admitted to the hospital because of primary amenorrhea. Her history revealed skeletal deformities and hearing impairment.


METHODS
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.


RESULTS
The hormonal analysis was characteristic for the hypogonadotropic hypogonadism. Radiological and molecular analyses confirmed CED diagnosis.


CONCLUSIONS
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.
Department of Gynecological Endocrinology, Poznan University of Medical Sciences, Poznan, Poland. blazejmeczekalski@yahoo.com
Blazej
B
Meczekalski
Adam
A
Czyzyk
Agnieszka
A
Podfigurna-Stopa
Bogdan
B
Rydzewski
Jakub
J
Sroczynski
Małgorzata
M
Lipinska
Jerzy
J
Sokalski
Maciej
M
Krawczynski
Aleksander
A
Jamsheer
Krzysztof
K
Katulski
Alessandro
A
Genazzani
D000568:Amenorrhea / Q000097:blood / Q000000981:diagnostic imaging / Q000209:etiology*; D001299:Audiometry; D001842:Bone and Bones / Q000000981:diagnostic imaging; D003966:Camurati-Engelmann Syndrome / Q000097:blood / Q000150:complications* / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007027:Hypothalamic Diseases / Q000097:blood / Q000000981:diagnostic imaging / Q000209:etiology*; D011861:Radiography, Dental; D055815:Young Adult