PSAT216 Turner Syndrome and Congenital Hypoparathyroidism

Abstract

Abstract Background Patients with Turner syndrome may have multiple associated metabolic comorbidities, some of which are rare. We present a case report with Turner syndrome and congenital hypoparathyroidism. Clinical Case A 30-year-old Caucasian female with Turner syndrome and primary ovarian insufficiency was referred for evaluation of osteopenia and elevated TSH. On her initial visit, the patient was asymptomatic, physical exam was significant only for short stature. The DEXA scan showed a T-score of -2 at the lumbar spine and -1.8 at the femoral neck. TSH was elevated at 4.81 (0.5–5.0 mIU/L), with normal serum levels of free T3 and free T4 consistent with subclinical hypothyroidism. Patient previously underwent aortic root imaging with no evidence of dilatation. Her only home medication was a combination oral contraceptive tablet (Yaz; drospirenone and ethinyl estradiol) for primary amenorrhea. The patient was started on calcium 500 mg daily and vitamin D3 400 IU. On her next visit, patient's calcium was 8.7 mg/dL (8.6–10.6 mg/dL), phosphorus 4.4 mg/dL (3–4.3 mg/dL), albumin 3.9 g/dL (3.4–5.4 g/dL), 25-hydroxy vitamin D 63.2 ng/dL (30-100 ng/dL), 24-hour urine calcium 93 mg/day (100-300 mg/day), and PTH 20 pg/mL (15–65 pg/mL) suggestive of hypoparathyroidism. There have only been a few case reports of congenital hypoparathyroidism in patients with Turner syndrome. (1) The patient was started on calcitriol 0.25 mcg daily and her calcium was increased to 500 mg twice daily. Repeat serum calcium was 9.1 and 25-hydroxy vitamin D 75.6 ng/dL showing that the patient responded appropriately to calcium and calcitriol supplementation. In the absence of a history of neck surgery or autoimmune diseases, the etiology behind hypoparathyroidism in this patient with Turner syndrome appears to be secondary to genetic mutation. Conclusion We highlight the importance of measuring parathyroid hormone level in patients with Turner syndrome who exhibit symptoms or signs of osteopenia as part of diagnostic workup. Reference (1) Suzuki Y, Watanabe H, Haeno S, Omori T, Hiramatsu R, Asada M, Tanaka F, Maeda T, Okada M, Suzuki T, et al. Primary hypoparathyroidism in Turner's syndrome. Intern Med. 1995 Nov;34(11): 1071-3. Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.