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

  • Clinical Management of Endocrine Diseases
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Abstract

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.

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Acknowledgments

We are grateful to the patient for allowing us to share the history and data of his diseases.

Conflict of interest

The authors declare that they have no conflict of interest.

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Informed consent was obtained from all individual participants included in the study. Additional informed consent was obtained from all individual participants for whom identifying information is included in this article.

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Authors and Affiliations

  1. Department of Endocrinology, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, EC1M 6BQ, UK

    Aniruthan Renukanthan & Márta Korbonits

  2. Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, UK

    Richard Quinton

  3. Department of Neurology, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK

    Benjamin Turner

  4. Department of Haematology, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK

    Peter MacCallum

  5. Department of Endocrinology, St George’s University of London, London, UK

    Leighton Seal

  6. Gender Identity Clinic Service, West London Mental Health NHS Trust, London, UK

    Andrew Davies

  7. Faculty of Medicine, Imperial College London, London, UK

    Richard Green

  8. Department of Neuroradiology, Barts Health NHS Trust, London, UK

    Jane Evanson

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  1. Aniruthan Renukanthan
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Renukanthan, A., Quinton, R., Turner, B. et al. Kallmann syndrome patient with gender dysphoria, multiple sclerosis, and thrombophilia. Endocrine 50, 496–503 (2015). https://doi.org/10.1007/s12020-015-0562-5

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