LATE DIAGNOSIS OF MALE HYPOGONADOTROPIC HYPOGONADISM

A POSSIBLE CASE OF KALLMANN SYNDROME?

Abstract

INTRODUCTION
Hypogonadism is a clinical syndrome characterized by disturbance of sexual organ functions and quality of life which is caused by androgen deficiency. While hypergonadotropic hypogonadism is the most frequent form of hypogonadism in male, hypogonadotropic hypogonadism is rare.

CASE
A 21-year-old male was referred to the endocrinology clinic with a problem of micropenis.While he had never reached puberty, anosmia and recurrent nasal congestion were present. His younger brother had similar complaints. Physical examination showed that he was in Tanner Stage I for Sexual Maturity Rating. In addition, gynecomastia, long arms and legs, and lack of skeletal muscle development (eunuchoidism) were observed. Genitalia examination showed no pubic hair; separated scrotums; testes with diameter of 1.5 cm; and penis with length of 2 cm without epispadia or hypospadia. While his testosterone, FSH, and LH levels were low, prolactin, fT4, TSH levels were within normal limits. No abnormalities were observed in the pituitary MRI imaging.

CONCLUSION
Early diagnosis and proper treatment in the case of delay/ absence of signs of puberty is of paramount importance. The presence of anosmia or hyposmia concurrent with hypogonadotropic hypogonadism might indicate the presence of Kallmann syndrome.