Testicular ultrasound in a patient with Kallmann syndrome: A case report

Abstract

Introduction. Kallmann syndrome is a genetic disorder marked by hypogonadotropic hypogonadism and anosmia. Patients with Kallmann syndrome have low circulating testosterone levels and low gonadotropin levels, whereas other pituitary hormones are normal. The treatment is based on sex steroid replacement with the aim to restore normal pubertal development and includes attempts to restore fertility by using gonadotropin-releasing hormones. Ultrasound examination of the testicles is a very useful complement to determine and monitor the precise testicular volume, which is an important prognostic factor for future fertility. Case Report. At the age of 18, the patient was suspected of having Kallmann syndrome and was referred to an endocrinologist. After three months of testosterone therapy, the patient was sent for an ultrasound of the testicles. The right testicle measured 16 x 6 mm, the left testicle 10 x 5 mm, both with a discrete marginal circular dichroism signal. One year after the first testicular ultrasound, the patient came for a checkup. The right testicle measured 14 x 5 mm, the left testicle 11 x 5 mm, stationary structure. Conclusion. The diagnosis of Kallmann syndrome is often delayed, because hypogonadotropic hypogonadism is usually not apparent until puberty, and individuals with anosmia are often unaware of this sensory deficit. In this case, late recognition of the syndrome, as well as late initiation of therapy, did not give satisfactory results.