Combined adrenal failure and testicular adrenal rest tumor in a patient with nicotinamide nucleotide transhydrogenase deficiency

Eli Hershkovitz, Maram Arafat, Neta Loewenthal, Alon Haim, Ruti Parvari

Research output: Contribution to journalArticlepeer-review

9 Scopus citations

Abstract

Objective: The nicotinamide nucleotide transhydrogenase (NNT) enzyme is the main generator of nicotinamide adenine dinucleotide phosphate-oxidase in the mitochondrion. Mutations of the NNT gene have been recently implicated in familial glucocorticoid deficiency. We describe the long-term clinical course of a NNT-deficient 20-year-old patient with combined adrenal failure who had developed a testicular adrenal rest tumor and precocious puberty. Methods: The patient's medical records were reviewed. Whole-exome sequencing was performed on DNA obtained from the patient and family members. Results: The patient experienced Addisonian crisis at 10 months of age. Enlarged testicular volume and precocious puberty, accompanied by increased testosterone levels, were noted at 6 years. Testicular biopsy revealed a adrenal rest tumor, which regressed after intensification of glucocorticoid treatment. Genetic studies disclosed a c.1163A>C, p.Tyr388Ser substitution on the NNT gene. This mutation is predicted to be damaging to NNT function. Conclusion: We demonstrated for the first time that the clinical spectrum of NNT deficiency may consist of mineralocorticoid deficiency and testicular involvement as well.

Original languageEnglish
Pages (from-to)1187-1190
Number of pages4
JournalJournal of Pediatric Endocrinology and Metabolism
Volume28
Issue number9-10
DOIs
StatePublished - 1 Sep 2015

Keywords

  • ACTH resistance
  • NNT deficiency
  • adrenal disease
  • adrenal gland insufficiency
  • adrenal rest tissue

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