Background: Adrenal insufficiency is an important and potentially life-threatening condition, and it is also known as a rare cause of hypercalcaemia.
Objective and hypotheses: Resistant hypercalcemia may be associated with hypocortisolism.
Method: A 18-day-old male infant was born at 36 weeks by emergency cesarean section for fetal distress and intrauterine growth retardation. He was referred to paediatric endocrinology because of the resistant hypercalcaemia. His parents are first degree cousins. On physical examination, the infant was appearing ill with the vital signs, heart rate of 160 beats/min; respiration rate of 68 breaths/min and blood pressure 90/65 mm/Hg, bilateral palpable gonads, a 3 cm phallus and scrotal hyperpigmentation.
Results: The laboratory evaluation revealed serum glucose, 58 mg/dl; calcium, 12.8 mg/dl; phosphorus, 6 mg/dl; sodium, 134 mEq/l; potassium, 6.8 mEq/l; alkalen phosphatase, 1100 U/l; ACTH, 104 pg/ml; morning (0800 h) cortisol, 4.4 μg/dl; 17-hydroxyprogesterone (17-OHP), 1900 ng/dl, DHEAS, 1000 μg/dl; total testosterone, 306 ng/dl. Standard-dose ACTH test revealed peak cortisol level 12 μg/dl and the peak 17-OHP and 11-deoxycortisol levels were 4800 ng/dl and 37.1 ng/ml respectively. He was diagnosed with congenital adrenal hyperplasia (11b-hydoxylase deficiency). Serum 25-OH vitamin D and PTH levels were 10.5 ng/ml and 4.8 pg/ml, respectively. Although i.v. saline infusion and furosemid treatment, hypercalcemia was persisted above 12.0 mg/dl. When he was diagnosed with oral hydrocortisone treatment at the dose of 20 mg/m2 per day was commenced. Hypertension and hypercalcamia were corrected by hydrocortisone replacement therapy. On the follow-up the patient did not develop hypercalcaemia or hypertension.
Conclusion: This case report confirms that, CAH may be one of the rare causes of neonatal hypercalcaemia. Neonatologists should consider CAH as a differential diagnosis of neonatal hypercalcaemia.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology