PMON35 An Unusual Case of Sporadic Congenital Hypopituitarism Presenting With Micropenis and Infantile Adrenal Crisis

Abstract

Abstract Introduction Congenital hypopituitarism is a rare and potentially devastating disorder occurring in 1 in 4000 to 1 in 10,000 live births. Congenital hypopituitarism can occur due to mutations in transcription factors and signaling molecules involved in the embryologic development of the pituitary. In a small number of cases there is a family history of the disorder. In these cases, multiple genes have been implicated including HESX1, PROP1, POU1F1, LHX3, LHX4, SOX2, SOX3, OTX2, PAX6, FGFR1, GLI2, and FGF8 with different forms of inheritance. However, the majority (80-90%) of these cases are sporadic, and patients do not have an identifiable genetic mutation. We present a case of sporadic congenital hypopituitarism to bring awareness to this unusual disorder. Case At birth, the patient's pediatrician noted that he had a micropenis on physical exam. Six weeks later he became hypotonic in his mother's arms and was rushed to a local hospital where he was found to a blood glucose of 18 mg/dL. As part of this evaluation, a head CT was performed which revealed an empty sella. Endocrinology was consulted and found that he was adrenally insufficient and hypothyroid. He was started on hormone replacement, improved and was discharged. At 18 months old, he had a grand mal seizure in the setting of an infection during which he required stress dosing of steroids. Since that time, he has remained seizure-free and without any episodes of adrenal crisis. At age 12, he was started on testosterone injections for the initiation of puberty and remained on this therapy for 2 years. He was also briefly on growth hormone supplementation during this time. He had mood swings with this formulation and so was converted topical testosterone though has had intermittent adherence to this. He had some excess urination in the past and was trialed on DDAVP, but this was eventually discontinued as laboratory evaluation was not consistent with diabetes insipidus. On presentation to adult endocrinology, his hormone replacement was adequate aside from low testosterone levels related to intermittent adherence and a low IGF-1 level. Conclusion Congenital hypopituitarism is a rare, potentially life-threatening disorder that can be difficult to diagnose. Patients that present at birth with hypoglycemia and micropenis should be evaluated for this condition early in their course. These patients require a complete pituitary evaluation and prompt treatment for pituitary hormone abnormalities. Ophthalmic evaluation is also indicated as many patients have abnormal development of optic nerves. We present this case to bring awareness to this unusual disorder.