A rare case of a 34-year-old patient diagnosed late with Kallmann syndrome: case report.

The patient presented with primary infertility as the chief complaint at age 34, representing an extremely late diagnosis of Kallmann syndrome.

• Kallmann syndrome is usually diagnosed at 14-16 years of age due to delayed puberty
• The patient was 34 years old at time of diagnosis, approximately 18-20 years later than typical presentation
• Primary infertility was the chief complaint that prompted medical evaluation
• Delays in diagnosis have been reported in a few cases prior to this report

Physical examination revealed bilateral gynecomastia, Tanner stage 2 sexual maturity, and anosmia.

• Bilateral gynecomastia was present on physical examination
• Sexual maturity was assessed as Tanner stage 2, consistent with incomplete pubertal development
• Anosmia (complete absence of smell) was identified, consistent with olfactory dysfunction characteristic of Kallmann syndrome
• These clinical features collectively suggested the diagnosis of Kallmann syndrome

Hormonal studies demonstrated a hypogonadotropic hypogonadism profile in the patient.

• Laboratory hormonal studies confirmed hypogonadotropic hypogonadism
• This hormonal profile is one of the two cardinal features of Kallmann syndrome
• Genetic testing revealed a normal male karyotype, ruling out chromosomal causes of hypogonadism such as Klinefelter syndrome

Imaging studies revealed small prostate, small testicles, olfactory bulb agenesis, and hypoplasia of the olfactory sulcus.

• Abdominal ultrasonography revealed a small prostate
• Testicular ultrasonography demonstrated small testicles bilaterally
• Neuroimaging study revealed olfactory bulb agenesis
• Neuroimaging also showed hypoplasia of the olfactory sulcus, consistent with the olfactory dysfunction component of Kallmann syndrome

The patient was treated with testosterone replacement therapy and placed on regular follow-up.

• Testosterone replacement therapy was the chosen treatment modality
• The patient was placed on regular follow-up after initiation of treatment
• No mention was made of gonadotropin therapy for fertility restoration in the abstract
• The authors concluded that suspected clinical features of KS may guide diagnosis with comprehensive hormonal and imaging studies