AI Article Synopsis
- - Kallmann syndrome is a rare condition marked by delayed puberty, infertility, and loss of sense of smell, which can occur alongside Klinefelter syndrome, leading to a new type of hypogonadism identified as mixed hypogonadism.
- - The study focused on three patients with both Kallmann and Klinefelter syndromes, using clinical evaluations, lab tests, and MRI scans to assess their conditions, while also screening for genetic factors linked to congenital hypogonadotropic hypogonadism (CHH).
- - The findings suggest that mixed hypogonadism should be considered when patients with CHH do not respond to treatments, especially in cases where Klinefelter syndrome is present and gonadotrop
Article Abstract
Purpose: Kallmann syndrome is a rare disease characterized by delayed puberty, infertility and anosmia. We report the clinical and genetic characteristics of three patients with Kallmann syndrome who presented with Klinefelter syndrome and defined this neglected combined form of hypogonadism as mixed hypogonadism.
Methods: Clinical data and examinations were obtained, including laboratory examination and magnetic resonance imagination (MRI) of the olfactory structures. Congenital hypogonadotropic hypogonadism (CHH) related genes were screened by next generation sequencing (NGS).
Results: Three patients with Kallmann syndrome were included. They had co-existence with Klinefelter syndrome and showed hypogonadotropic hypogonadism. Patient 1 was complicated with germinoma.
Conclusion: Mixed hypogonadism was defined as hypogonadotropic hypogonadism in Klinefelter syndrome or primary testicular disease. Clinicians should be alert to mixed hypogonadism when spermatogenesis induction failed in patients with CHH or gonadotropin levels decrease in patients with Klinefelter syndrome.
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| http://dx.doi.org/10.1007/s12020-023-03532-2 | DOI Listing |
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