Markedly delayed puberty or Kallmann's syndrome variant.

Area of Science:

• Endocrinology
• Reproductive Medicine
• Genetics

Background:

• Kallmann syndrome is a genetic disorder characterized by hypogonadotropic hypogonadism and the absence of the sense of smell.
• It affects GnRH secretion, leading to delayed or absent puberty and infertility.

Observation:

• A 25-year-old male patient was diagnosed with Kallmann syndrome.
• The patient underwent 21 months of treatment with parenteral testosterone (T).

Findings:

• Following testosterone therapy, the patient experienced spontaneous puberty at the age of 27.
• This suggests a potential for delayed pubertal development in some Kallmann syndrome cases, even after initial treatment.

Implications:

• Parenteral testosterone administration may play a role in initiating pubertal development in select Kallmann syndrome patients.
• Further research is needed to understand the long-term effects and optimal treatment strategies for Kallmann syndrome.