Hypogonadotropic hypogonadism in a female with the Johnson-McMillin syndrome.
A case of hypogonadotropic hypogonadism associated with the Johnson-McMillin syndrome is presented. This is a rare, autosomal dominant disorder, characterized by variable degrees of alopecia and anosmia, conductive hearing loss, and increased dental caries. Until now hypogonadotropic hypogonadism has only been observed in affected men. Ovulation can be induced with gonadotropins and conception can be obtained, but because prenatal diagnosis is not as yet possible, oocyte donation should be offered as an alternative for procreation.
De Metsenaere
Fleur
F
Department of Obstetrics and Gynecology, Ghent University Hospital, Ghent, Belgium.
Mortier
Geert
G
Dhont
Marc
M
D000015:Abnormalities, Multiple / Q000097:blood / Q000175:diagnosis / Q000473:pathology; D000328:Adult; D000568:Amenorrhea / Q000209:etiology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D020752:Neurocutaneous Syndromes / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000473:pathology