Hypogonadotropic hypogonadism in a female with the Johnson-McMillin syndrome.

Abstract

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.

• Authors: Fleur De Metsenaere, Geert Mortier, Marc Dhont
• Journal: American journal of obstetrics and gynecology (Am J Obstet Gynecol) Vol. 191 Issue 5 Pg. 1728-9 (Nov 2004) ISSN: 0002-9378 [Print] United States
• PMID: 15547553 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (blood, diagnosis, pathology)
• Adult
• Amenorrhea (etiology)
• Diagnosis, Differential
• Female
• Humans
• Hypogonadism (blood, complications, diagnosis, pathology)
• Neurocutaneous Syndromes (blood, complications, diagnosis, pathology)