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Kallmann syndrome patient with gender dysphoria, multiple sclerosis, and thrombophilia

Lookup NU author(s): Dr Richard Quinton, Dr Richard Green


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One of the challenging issues in patients with complex problems is that the various diseases and their treatment can influence each other and present unusual hurdles in management. We investigated one such complex case. A 34-year-old XY male presented with azoospermia, detected on semen analysis for pre-orchidectomy sperm banking. He had a 20-year history of gender dysphoria and bilateral breast swelling. The patient suffered a deep vein thrombosis at the age of 19 years. Examination confirmed clinical features of Kallmann syndrome including unilateral cryptorchidism, micropenis, congenital anosmia, and bimanual synkinesis (mirror movements), with reduced serum testosterone and normal gonadotropin levels demonstrating hypogonadotropic hypogonadism. MRI showed missing olfactory bulbs. Osteopenia and reduced vitamin D levels of 21 nmol/L were identified. He was found to harbor a heterozygous factor-V-Leiden mutation. The genetic basis of Kallmann syndrome remains unknown: his screening tests were negative for mutations in CHD7, FGF8, FGFR1, GNRH1, GNRHR, HS6ST1, KAL1, KISS1R, KISS1, NELF, PROK2, PROKR2, TAC3, and TACR3. The patient initially declined testosterone therapy with a view to undergo gender reassignment. Over the next 2 years, the patient experienced recurrent episodes of weakness and paresthesia, associated with classical MRI appearances of multiple sclerosis-related demyelination in the spinal cord and brain. Although it was difficult to elucidate an association between the patient's gender dysphoria and untreated congenital hypogonadism, his desire to become female together with his co-existing thrombophilia, presented challenges to the administration of hormone treatment. Furthermore, we have considered an association between multiple sclerosis and hypogonadotropic hypogonadism.

Publication metadata

Author(s): Renukanthan A, Quinton R, Turner B, MacCallum P, Seal L, Davies A, Green R, Evanson J, Korbonits M

Publication type: Article

Publication status: Published

Journal: Endocrine

Year: 2015

Volume: 50

Issue: 2

Pages: 496-503

Print publication date: 01/11/2015

Online publication date: 05/03/2015

Acceptance date: 21/02/2015

ISSN (print): 1355-008X

ISSN (electronic): 1559-0100

Publisher: Springer


DOI: 10.1007/s12020-015-0562-5


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