Endocrine Abstracts

Introduction: CD8+ T-cell deficiency is a feature of many chronic autoimmune diseases. Its association with vitamin D deficiency was described and it has been suggested that vitamin d deficiency contribute to the increase of the incidence and the progression of autoimmune diseases.

Herein we report a case of hypopituitarism and vitamin D deficiency in a patient with CD8+ T-cell deficiency.

Observation: A 28-year-old woman was admitted for a severe hypocalcaemia. She was born at term to healthy consanguineous parents and had a history of a primary CD8+ T-cell deficiency diagnosed at the age of 2 years, recurrent infectious diseases, hepatic cirrhosis and a pathological fracture of the femoral neck. She presented with constipation, abdominal pain and numbness and a primary amenorrhea. On physical examination, she had a body weight of 37 kg, a body height of 128 cm, a blood pressure of 10/6 cm Hg, a female phenotype with a female external genitalia (Tanner stage: breast development: stage 3 and pubic hair: stage 1), a dysmorphic syndrome and small hands and feet. Trousseau and Chvostek signs were positive. Electrocardiograph showed allonged QT: QTc 477 ms. The funduscopic examination revealed retinitis pigmentosa. On routine blood tests, she had a corrected calcium level of 62 mg/l, a phosphorus level of 27 mg/l, a magnesium level of 12 mg/l, a creatinine level of 4 mg/l. Hormonal investigations revealed a high PTH level of 470 pg/ml, a low 25 OH vitamin d level of 9 µg/l, a corticotropin deficiency with a peak cortisol level in response to insulin induced hypoglycemia test of 12 µg/dl and a hypogonadotropic hypogonadism. Peak GH level in response to hypoglycemia test was 33 mUI/l. Prolactin level and thyroid function were normal. Pelvic ultrasonography showed hypoplastic uterus with no visualized ovaries. Pituitary magnetic resonance imaging was contraindicated in our patient because she had a foreign metal screw. The patient was treated with hydrocortisone, vitamin d and calcium gluconate.

Conclusion: We report an unusual case of hypopituitarism and vitamin D deficiency in a patient with a primary CD8+ T-cell deficiency. It is difficult to assess the relationship between these disorders. Further investigations are needed to understand this association.