An Interesting Case Of Hypogonadotropic Hypogonadism: Kallmann Syndrome A Case Report
Jyothis P Jose, G Rathnakumar
Abstract
Jyothis P Jose, G Rathnakumar
Abstract
Kallmann syndrome (KS), a rare genetic disorder, refers to the association between hypogonadotropic hypogonadism and anosmia or hyposmia due to abnormal migration of olfactory axons and gonadotropin-releasing hormone producing neurons. We report a case of a 22-year-old male who presented with eunuchoid body proportion, absence of facial and axillary hair and sparse pubic hair, micropenis and bilaterally descended prepubertal testes. Associated findings were hyposmia, high pitched voice. Hormonal assay showed hypogonadotropic hypogonadism. He has normal male karyotype. Ultrasonography revealed no renal abnormalities. MRI of the brain showed hypo plastic left olfactory bulb and aplastic right olfactory bulb. These findings are characteristic of KS. Androgen replacement with testosterone was started to induce virilisation. Our patient is now on regular follow-up to monitor response to treatment. hypogonadotropic hypogonadism, Kallmann syndrome
A significance statement is not available in the OpenAlex record.
A contribution statement is not available in the OpenAlex record.
Method details are not available in the OpenAlex metadata.
Findings are not separately available in the OpenAlex metadata.
Limitations are not available in the OpenAlex metadata.
Application details are not available in the OpenAlex metadata.
Kallmann syndrome (KS), a rare genetic disorder, refers to the association between hypogonadotropic hypogonadism and anosmia or hyposmia due to abnormal migration of olfactory axons and gonadotropin-releasing hormone producing neurons. We report a case of a 22-year-old male who presented with eunuchoid body proportion, absence of facial and axillary hair and sparse pubic hair, micropenis and bilaterally descended prepubertal testes. Associated findings were hyposmia, high pitched voice. Hormonal assay showed hypogonadotropic hypogonadism. He has normal male karyotype. Ultrasonography revealed no renal abnormalities. MRI of the brain showed hypo plastic left olfactory bulb and aplastic right olfactory bulb. These findings are characteristic of KS. Androgen replacement with testosterone was started to induce virilisation. Our patient is now on regular follow-up to monitor response to treatment. hypogonadotropic hypogonadism, Kallmann syndrome
Key concepts: Kallmann syndrome, Hyposmia, Hypogonadotropic hypogonadism, Anosmia, Medicine, Endocrinology, Micropenis, Internal medicine