Long-term follow-up data on three siblings with a novel NNT duplication mutation causing primary adrenal insuficiency
We performed a long-term follow-up of three sibling that were found to be homozygous for a novel duplication mutation in the NNT gene, encoding nicotinamide nucleotide transhydrogenase (NNT). Lack of a functional NNT protein results in primary adrenal insuficiency and also some other extra-adrenal manifestations. All three brothers were managed as out- and in-patients at the University Children's Hospital, University Medical Centre Ljubljana. They presented to us at the age of 1.4, 1.1 years and 2 monts. Their age at last follow-up was 21.6, 20.2 and 4.2 years. Patients 1 and 2 presented with Addisonian crisis. In this dataset, we provide the raw data on: - Laboratory values at first presentation, - Laboratory values through follow-up, - Bone mineral density, - Growth (height, weight, BMI), - Hydrocortisone treatment, - ACTH stimulation test, - GnRH stimulation test. The main findings were: - all three brothers who were homozygous for a novel mutation in NNT gene developed isolated glucocorticoid deficiency, - acute adrenal crisis developed in patients 1 and 2 after the first year of life, - patient 3 was identified at the age of 2 months in the asymptomatic stage, - none had mineralocorticoid deficiency, - thyroid function was normal, - testicular volume was somewhat lower than expected for their age, but testosteron, inhibin B and GnRH test results were appropriate, - low bone mineral density was observed in patients 1 and 2.
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Body height, weight and BMI Z scores/percentiles were calculated from the UK-WHO growth charts. Body surface area was calculated with Haycock's formula. Morning blood samples were used for laboratory measurements. Dual-energy X-ray absorptiometry was used to measure bone mineral density. ACTH stimulation test was performed and interpreted according to guidelines (https://doi.org/10.1210/jc.2015-1710). We measured basal LH and FSH levels and stimulated levels after 20, 30 and 60 minutes of administration of 100 mcg GnRH. LH and FSH were measured using immunochemiluminometric assay.