Unusual presentation of Kallmannn syndrome with contiguous gene deletion in three siblings of a family.

[kallmann syndrome]

We report the case of 3 brothers aged 34 , 24 , and 22 years , unmarried , who presented to our endocrinology clinic with absence of secondary sexual characters . There was no such history in other siblings , but their maternal uncle had similar complaints . On examination , all 3 had pre-pubertal appearance , voice , and genitalia along with anosmia and bimanual synkinesia . Cryptorchidism was noticed in 2 while third person had small hypoplastic testes . It was also noted that all 3 patients had icthyosis mainly involving trunk , back , and limbs . The hormonal assays were consistent with isolated hypogonadotrophic hypogonadism . IQ testing revealed mental retardation in the 2 patients . Ultrasound showed ectopic right kidney in one patient , atrophic right kidney in the second patient while the third patient had normal kidneys . MRI brain of all the patients showed poorly visualized olfactory tract and bulb . Kallmann syndrome (KS ) was diagnosed based on hormonal evaluation and MRI results . Of the four types of KS : Synkinesia , renal anomaly , and X-linked pedigree pattern in our patients pointed towards X-linked type 1 KS as the possible cause . But , icthyosis and mental retardation are not usual presentation of type 1 KS . They are usually seen as a result of contiguous gene deletion of KAL 1 , steroid sulfatase (STS ), and mental retardation (MRX ) gene on X chromosome . Hence , the possible gene defect in our cases is inherited defect in contiguous gene deletion . The contiguous gene deletion as the cause of KS in 3 patients of same family is very rare and worth reporting . Also , the significance of phenotype-genotypic association in Kallmann syndrome is discussed .

Diseases
Validation

Diseases presenting "hypoplastic testes" symptom

kallmann syndrome

This symptom has already been validated