Three Sisters with Addison’s Disease (original) (raw)

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1Department of Pediatrics (A.G.M.), Akershus Central Hospital, N-1474 Nordbyhagen, Norway

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2Department of Human Molecular Genetics (P.B.), National Public Health Institute, FIN-00300 Helsinki, Finland

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3Department of Microbiology (A.D.), University Hospital, N-7006 Trondheim

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4Medical Department B (E.S.H.), Haukeland University Hospital, N-5021 Bergen, Norway

*Address all correspondence and requests for reprints to: Eystein S. Husebye, M.D., Ph.D., Medical Department B, Haukeland University Hospital, N-5021 Bergen, Norway.

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Revision received:

14 July 1998

Published:

01 December 1998

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Anne Grethe Myhre, Petra Björses, Are Dalen, Eystein S. Husebye, Three Sisters with Addison’s Disease, The Journal of Clinical Endocrinology & Metabolism, Volume 83, Issue 12, 1 December 1998, Pages 4204–4206, https://doi.org/10.1210/jcem.83.12.5332
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History

We report on a family, of mother, father, and six siblings (Table 1). At the age of 5 yr, sibling E was hospitalized with fever, dyspnea, and vomiting. Clinically she was dehydrated. Her blood pressure was 98/50 mm Hg; pulse, 156 min−1; and temperature, 38.9 C. Her blood hemoglobin was 152 g/L; leukocytes, 17.3 × 109 cells/L; and glucose, 1.6 mmol/L. Serum C-reactive protein was 146 mg/L; sodium, 125 mmol/L; potassium, 5.2 mmol/L; capillary blood pH, 7.15; and base excess,− 22,3 mmol/L. Her condition was treated as septicemia. Psychomotoric retardation was noted, and a computer tomography revealed intracranial calcifications. On a follow-up visit, 6 weeks later, blood was drawn for serum calcium, magnesium, and PTH analysis.

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Four weeks later, she contracted varicella. On admission, she was again dehydrated with hyponatremia (127 mmol/L) and hypoglycemia (2.9 mmol/L). Total serum calcium was initially 1.62 mmol/L (albumin, 47 g/L) and fell to 1.28 mmol/L, 3 days later. Treatment with calcium gluconate and 1,2-dihydroxy vitamin D3 was started. The blood test taken earlier revealed a serum calcium of 1.72 mmol/L; magnesium, 0.65 mmol/L; and undetectable levels of PTH (<0.6 pmol/L), suggesting primary hypoparathyroidism. Samples for ACTH and cortisol were drawn.

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