性促素低常型睪酮低常症

李明儒2、劉致毅1,2

 1高雄市立小港醫院泌尿科； 2高雄醫學大學附設中和紀念醫院 泌尿部

Hypogonadal hypogonadism

 Ming Ru Lee2, Chih I Liu1,2

Division of Urology, Kaohsiung Municipal Siaogang Hospital, Taiwan1; Department of Urology, Kaohsiung Medical University Hospital, Kaohsiung Medical University2

Present Illness:

A 21-year-old male patient presented at our clinic with complaint of absent of secondary sexual characteristics. He denied any previous growth development delay. He also denied any previous systematic underlying disease.

Lab and Physical examination:

His serum testosterone level was low, measured 44.9 ng/dL (For young male standard: 245~1836 ng/dL). While other lab data such as: cortisol, prolactin, luteinizing hormone, dehydroepiandrosterone all had normal value accoding to our hospital’s lab criteria. On physical examination, he had small intrascrotal testes(< 1 orchidometer), no pubic hair, microphallus, hyposmia. There was no obvious secondary sexual characteristics noted. MRI was arranged which showed no abnormal lesion around pituitary gland. Chromosome analysis showed 46 X,Y without any abnormality.

Treatment:

Due to the above symptoms and lab data. Hypogonadal hypogonadism was suspected, favor of Kallmann syndrome. According to current guideline suggestion, HCG 1500 to 3000 IU 2-3times per week + rFSH 75-150 IU 2-3 times per week with total treatment period of 8-12wk. With the above therapy, patient is expected to develop spermatogenesis at 3-6 Months onset.

Discussion:

Hypogonadal hypogonadism and Kallmann syndrome are both conditions that affect the endocrine system, particularly in males. Hypogonadal hypogonadism refers to a deficiency in the production of testosterone, resulting in various symptoms such as decreased libido, infertility, and decreased muscle mass. On the other hand, Kallmann syndrome is a genetic disorder characterized by delayed or absent puberty and an impaired sense of smell due to abnormal development of the hypothalamus, which controls the release of hormones involved in puberty and reproduction. While both conditions share similarities in terms of hormonal imbalance and reproductive issues, Kallmann syndrome presents additional challenges related to its neurodevelopmental aspects. Treatment for both conditions often involves hormone replacement therapy to address the deficiencies and improve quality of life. However, Kallmann syndrome may require additional interventions to manage its unique neurological manifestations, highlighting the importance of early diagnosis and comprehensive management strategies.

Conclusion:

In summary, hypogonadal hypogonadism and Kallmann syndrome present unique challenges in male endocrinology. While hormone replacement therapy is a cornerstone of treatment, Kallmann syndrome's neurodevelopmental aspects require a holistic approach.