CONGENITAL IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM: A CASE REPORT

Abstract: Congenital idiopathic hypogonadotropic hypogonadism (IHH) is caused by the lack of production or physiological response to gonadotropin releasing hormone (GnRH). A wide variety of genetic mutations have been implicated in the disorder demonstrating autosomal dominant, recessive, and X-linked inheritance patterns. Diagnosis of IHH is complicated by its similarity in presentation to a constitutional delay of puberty and often goes undiagnosed in patients under the age of 18. Once IHH is identified, the effects of the disturbed HPA axis must be addressed. In this report, we offer a brief overview of the diagnosis and management of IHH and present the case of a 27-year old male with undiagnosed IHH. We present the following case: A 27-year old 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 confirmed undescended testes. DEXA scan revealed osteopenia. He was diagnosed as IHH. The patient was provided with supplementary vitamin D, calcium, and referrals to endocrinology and urology for orchiopexy. Purpose: (a): Congenital idiopathic hypogonadotropic hypogonadism (IHH) is caused by the lack of production or physiological response to gonadotropin releasing hormone (GnRH). A wide variety of genetic mutations have been implicated in the disorder demonstrating autosomal dominant, recessive, and X-linked inheritance patterns. Diagnosis of IHH is complicated by its similarity in presentation to a constitutional delay of puberty and often goes undiagnosed in patients under the age of 18. Once IHH is identified, the effects of the disturbed HPA axis must be addressed. In this report, we offer a brief overview of the diagnosis and management of IHH and present the case of a 27-year old male with undiagnosed IHH. Methods (b): A 27-year old male presented to a family medicine clinic with complaint of a changing skin lesion that was a melanoma in situ. As a result the patient 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 confirmed undescended testes. DEXA scan revealed osteopenia. Results (c): The patients was diagnosed as IHH. The patient was provided with supplementary vitamin D, calcium, and referrals to endocrinology and urology for orchiopexy. Conclusions (d): The diagnosis of IHH in this patient was critical for his future health. Osteoporosis, increased risk of testicular cancer secondary to cryptorchidism, and infertility are just a few of the more serious sequelae associated with IHH. When diagnosed early, these comorbidities can be reduced or even eliminated. This case highlights the value of obtaining a detailed history and performing a thorough physical examination as this patient’s risk of cancer, fractures, and infertility could have been dramatically reduced with an earlier diagnosis.