Long-term follow-up data on three siblings with a novel NNT duplication mutation causing primary adrenal insuficiency

Published: 22 March 2022| Version 1 | DOI: 10.17632/zgytmbrnr2.1
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Description

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.

Institutions

Univerza v Ljubljani Medicinska Fakulteta

Categories

Endocrinology, Pediatrics, Gene Mutation, Mitochondrion, Adrenal Disorder, Addison's Disease, Bone Mineral Density, Long-Term Care, Adrenocorticotropic Hormone

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