Gynecological aspects of female familial dysautonomia.
BACKGROUND
Familial dysautonomia is a genetic disease in which there is a defect in the autonomic and sensory nervous systems. These systems have a major role in the reproductive system.


OBJECTIVE
To study the inter-relationship of autonomic and sensory dysfunction and gynecological function.


METHODS
The gynecological histories of 48 women with familial dysautonomia were analyzed retrospectively. Their mean age was 22.25 years (range 12-47). Thirty-three women (65%) were available for further questioning and investigation of hormonal status.


RESULTS
Menarche had occurred in 32 of the 48 (66.7%). Their average age of menarche was significantly delayed as compared to their unaffected mothers (15.5 vs. 13.6 years respectively, P = 0.002). The most prominent finding was the very high prevalence, 81.2%, of premenstrual symptoms. Seven of 26 had premenstrual syndrome symptoms of dysautonomic crisis. Blood sex hormone levels were normal in 27 of the 33 patients studied. None reached natural menopause. One patient had adenomyosis, and another, dysgerminoma. Three patients became pregnant and delivered healthy infants.


CONCLUSIONS
Menarche is delayed in women with FD, and the physiological monthly hormonal fluctuations may disturb autonomic homeostasis sufficiently to precipitate dysautonomic crisis.
Maayan
C
C
Department of Pediatrics, Hadassah University Hospital, Mt. Scopus, Jerusalem, Israel. cmaayan@hadassah.org.il
Sela
O
O
Axelrod
F
F
Kidron
D
D
Hochner-Celnikier
D
D
D000293:Adolescent; D000328:Adult; D002648:Child; D004402:Dysautonomia, Familial / Q000097:blood / Q000150:complications*; D005260:Female; D006728:Hormones / Q000097:blood; D006801:Humans; D008572:Menarche; D008599:Menstruation Disturbances / Q000150:complications*; D008875:Middle Aged; D011247:Pregnancy; D011293:Premenstrual Syndrome / Q000150:complications; D017584:Reproductive History; D012189:Retrospective Studies
D006728:Hormones