ECE2022 Eposter Presentations Reproductive and Developmental Endocrinology (93 abstracts)
Primary Ovarian Insufficiency in RMND1 Mitochondrial Disease
Emese Boros 1 , Farel Elilie Mawa Ongoth 2 , Claudine Heinrichs 1 , Anne Laure Mansbach 3 , Sara Seneca 4 , Alec Aeby 5 , Khalid Ismaili 6 & Cécile Brachet 1
1Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Paediatric Endocrinology, Brussels, Belgium; 2Hôpital Universitaire des Enfants Reine Fabiola, Paediatric Endocrinology, Brussels, Belgium; 3Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Paediatric Ear Nose and Throat Department, Brussels, Belgium; 4Universitair Ziekenhuis Brussels, Vrije Universiteit Brussels, Center for Medical Genetics/Research Center Reproduction and Genetics, Brussels, Belgium; 5Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Paediatric Neurology, Brussels, Belgium; 6Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Paediatric Nephrology, Brussels, Belgium
Context: The genes implicated in premature ovarian failure play a role in crucial biologic processes such as DNA repair, meiosis, germ cell recruitment, steroidogenesis and mitochondrial function. Mitochondrial disorders are varied in their onset, inheritance pattern, and clinical presentation, but they often cause dysfunction in organs with high energy demands. Frequent features include hypertrophic cardiomyopathy, heart conduction defects, myopathy, sensorineural deafness, cerebellar ataxia, epilepsy, optic and peripheral neuropathy, among others. In addition, mitochondrial disorders often present with a range of endocrine features, including diabetes mellitus, GH deficiency, hypogonadism, thyroid disease, and ovarian dysfunction. RMND1 (Required for Meiotic Nuclear Division 1 homolog) is a nuclear encoded mitochondrial protein. Biallelic variants in RMND1 are described in patients with white matter encephalopathy, hearing loss and renal dysfunction. In addition to this phenotype, two independent families (3 patients) have been reported with ovarian failure.
Case Presentation: We report on a 17 year-old girl with RMND1 related mitochondrial disorder including white matter encephalopathy, hearing loss and renal insufficiency who presented primary ovarian insufficiency. She is homozygous for the already described c.713 A>G (p.Asn238Ser) in RMND1.
Conclusions: We report the third patient with RMND1 biallelic pathogenic variants and primary ovarian insufficiency. Given the two previous reports linking RMND1 and ovarian insufficiency and the many reports linking mitochondrial diseases with ovarian dysfunction, we believe that the RMND1 pathogenic variants are indeed responsible for the severe ovarian insufficiency observed in our patient.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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