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Endocrine Abstracts (2020) 70 EP317 | DOI: 10.1530/endoabs.70.EP317

La Rabta Hospital, Department of Endocrinology, Tunis, Tunisia


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.

Volume 70

22nd European Congress of Endocrinology

Online
05 Sep 2020 - 09 Sep 2020

European Society of Endocrinology 

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