Congenital Idiopathic Hypogonadotropic Hypogonadism: A Case Report

Abstract

A 27 year old white male presented to a family medicine clinic with complaint of a changing skin lesion that was a melanoma in situ. As a result, he had a full-skin exam and was found to have a microphallus, undescended testes, and minimal pubic hair distribution. He had a normal sense of smell. Laboratory evaluation showed total testosterone to be 26 ng/dL (250-1100 normal), LH 0.4 mIU/mL (1.5-9.3 normal), and FSH 1.6 mIU/mL (1.6-8.0 normal). Prolactin, PTH, and calcium were within normal limits, as well as his CBC and BMP. MRI of the brain showed no lesions of the hypothalamus or pituitary gland. An abdominal CT and DEXA scan revealed undescended testes and osteopenia, respectively. He was diagnosed as IHH. The patient was provided with supplementary vitamin D, calcium and referrals to endocrinology and urology for orchiopexy. This patient was followed at my clinic regularly. By the time that this manuscript was written, urologist evaluated the patient and orchiopexy was scheduled.