SAT-212 62-Year-Old Woman with Undiagnosed Kallman Syndrome: A Case of Missed Opportunities

Abstract

Background: Kallman Syndrome (Isolated gonadotropin-releasing hormone (GnRH) deficiency with anosmia/hyposmia) affects both sexes but has male preponderance. The sex difference likely relates to genetics and possible early diagnosis in males because of microphallus and cryptorchidism. The presentation of Kallman syndrome in females may be very subtle and may lead to a delay in the diagnosis and management. Clinical Case A 62-year-old Caucasian female with a history of hypertension, hyperlipidemia, seizure disorder, COPD, multiple fractures and peripheral vascular disease was referred for evaluation of chronic hyponatremia that was diagnosed 6 years ago. The patient was euvolemic on the exam, and laboratory evaluation was consistent with SIADH. Labs showed Na 122-130 mmol/L, normal thyroid function and cortisol levels, serum Osm 259 mOsm/kg (Normal 280-300 mOsm/kg), urine Osm 565mOsm/kg (Normal 50-1200 mOsm/kg). Hyponatremia had been managed with fluid restriction and salt tablets. Other work-up was negative for malignancy. Unrelated to hyponatremia, the patient had striking virilization and hirsutism. On further history, she reported primary amenorrhea, infertility, lack of secondary sexual characteristics and anosmia. Physical exam was notable for absent secondary female sexual characteristics. Additional family history revealed a brother with anosmia and incomplete secondary sexual development and multiple females who never achieved puberty or fertility. Further workup included a normal pituitary MRI, and inappropriately low FSH of 1.0mIU/ml and LH of 0.3 m IU/ml (expected post-menopausal levels > 51 and 14, respectively). Other pituitary axis evaluation was normal. The patient also had a history of low trauma fractures of the hip and forearm. Bone density scan showed severe osteoporosis with a T-Score of -4.80 at the right femoral neck and -4.90 at the spine. Secondary osteoporosis work-up was negative. She was started on anabolic therapy with Teriparatide with plans to follow with antiresorptive therapy. Conclusion: This patient was diagnosed with hypogonadotropic hypogonadism due to Kallman Syndrome with severe osteoporosis. This case illustrates the value of physical exam and considering diagnoses and work up beyond the initial reason for consultation. A timely diagnosis in her case could have improved her quality of life, helped her achieve fertility and possibly may have prevented severe osteoporosis. The literature review also suggests a significant percentage of patients do not receive treatment for osteoporosis after hip fracture. (1) References 1 -Solomon DH, Johnston SS, Boytsov NN, McMorrow D, Lane JM, Krohn KD. Osteoporosis Medication Use After Hip Fracture in U.S. Patients Between 2002 and 2011, J Bone Miner Res. 2014 Sep;29(9):1929-37.