A rare disease of Kallmann syndrome: A case report

Chromosomal examination revealed a 46XY karyotype pattern.
Elsevier, Radiology Case Reports, Volume 18, Issue 3, 2023, Pages 1232-1238
Syawaluddin Hilman, Dian Komala Dewi, Euis Kartika

Kallmann syndrome (KS) is a rare genetic disorder that refers to the association between hypogonadotropic hypogonadism and anosmia or hyposmia due to abnormal migration of olfactory axons and gonadotropin-releasing hormone-producing neurons. Here, we present a case of a 40-year-old man who presented with psychological problems (emotional disturbance) as the chief complaint. Physical examination revealed gynecomastia, absence of facial and axillary hair, and sparse pubic hair, micropenis, undescended right testicle, low libido and lack of sexual function. A related finding is anosmia, a high-pitched voice. Hormonal analysis revealed hypogonadotropic hypogonadism profile, and chromosomal examination revealed a normal male karyotype. Abdominal ultrasound showed normal organs, and scrotal ultrasound showed an undescended right testicle (UDT) and small testes. Brain MRI revealed pituitary gland hypoplasia and olfactory bulb agenesis. These findings are characteristic of KS. He underwent orchidopexy dextra. He is now on a regular follow-up. Hormone replacement therapy is planned. Thus, besides medical treatments, psychological care is an integral component of the treatment strategy for this patient.