Unusual presentation of Kallmannn syndrome with contiguous gene deletion in three siblings of a family
A 34-year-old male unmarried male A presented to our endocrinology clinic with complaints of absence of secondary sexual characters. On probing, he also gave history of similar symptoms in 2 of his brothers having similar complaints. All 3 were called to our clinic for further workup. Two of them (B and C) gave history of absent testes in scrotum while the third had small testes. They had 5 more brothers and 6 sisters, neither of whom had any such complaints. In B, C there was history of poor performance in school and delayed developmental milestones. There was history of similar complaints in maternal uncle who had died due to some unknown cause.\nOn examination, all 3 had pre-pubertal appearance, voice, and genitalia along with anosmia and synkinesia of upper limb. Testes were small and hypoplastic in A, while in B and C, they were not palpable in the scrotum or inguinal canal. It was also noted that all 3 patients had icthyosis mainly involving trunk, back, and limbs.\nAll 3 patients underwent routine biochemical investigations, hormonal assays, and radiological scans. Hormonal assays revealed isolated hypogonadotrophic hypogonadism with normal thyroid function tests and basal cortisol level. Growth hormone provocation test did not reveal any growth hormone deficiency. In B and C, USG showed that the testes were hypoplastic and inguinal in location. It also revealed atrophic right kidney in A, ectopic right kidney in C while C had normal kidneys. MRI brain of all the patients revealed poorly visualized olfactory tract and bulb. Patient B had a 4 × 2 cm cyst in cerebellopontine angle, arachnoid cyst. All 3 were diagnosed as a case of Kallmann syndrome and treated with testosterone injection to induce secondary sexual characters.