Endocrine Abstracts

Kallman’s syndrome is a abroad term which refers to association of olfactory alterations and idiopathic hypogonadotropic hypogonadism and it is responsible for approximately 50% of all cases of idiopathic hypogonadotropic hypogonadism. It is classically associated with KAL1 gene mutation. However, it is not caused by this single gene alone, but multiple genes have been found associated. We present a 31-year-old male Nurse with CHD7 associated Kallman’s syndrome. He was diagnosed with Kallman’s syndrome since age 14 when he presented with delayed puberty and anosmia and has been on hormone replacement therapy. No associated visual or hearing abnormalities and no learning disability. Apart from pituitary incidentaloma about 10 years before his recent relocation to the UK, he has no other past medical history. He went through puberty as expected with Testosterone and the dose was increased slowly until the adult dose was maintained on Testosterone undecanoate 1 g every ten weeks. He was not in a relationship but plan fertility in the future. He is a current smoker, and drinks moderate alcoholic beverages. Examination showed height of 160 cm (similar to parental height), weight 85.5 kg, non-eunuchoidal, BP 130/86 mmHg, small male external genitalia, VF normal to confrontation, right testes was absent with small left testicle. Biochemistry included undetectable LH and FSH with Testosterone 9.6 (few weeks prior next dose of Nebido), haematocrit of 50.4, PSA of 0.35. Other pituitary hormone results are normal. Normal Pituitary MRI with no obvious pituitary adenoma, pelvic MRI showed short right inguinal canal containing small volume soft tissues inferiorly and atrophied left testis in the left hemi-scrotum which necessitated urologist referral. Genetic result positive for CHD-7 with normal Echocardiography. The presence of anosmia in patient presenting with idiopathic hypogonadotropic hypogonadism often gives a way the diagnosis of Kallmann syndrome. However, this is not a single genetic entity but associated with more than 20 genetic mutations, one of which is the CHD7 as our patient presented. It is commonly known to be associated with CHARGE syndrome and accounts for 5-10% of all Kallman’s syndrome. It could be associated with or without other phenotypical features of CHARGE syndrome but with milder severity due to missense variants rather than nonsense variants with less severe effect on protein function than those that cause CHARGE syndrome. Although, the phenotype cannot be predicted from genotype, but in our patients, the genotyping allowed comprehensive care and adequate planning on future expectations.