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Alessandro Barbato Auxo-endocrinology Unit, Meyer Children's Hospital IRCCS, Florence, Italy
Department of Health Sciences, University of Florence, Florence, Italy

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Giulia Gori Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy

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Michele Sacchini Metabolic and Muscular Unit, Meyer Children's Hospital IRCCS, Florence, Italy

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Francesca Pochiero Metabolic and Muscular Unit, Meyer Children's Hospital IRCCS, Florence, Italy

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Sara Bargiacchi Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy

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Giovanna Traficante Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy

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Viviana Palazzo Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy

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Lucia Tiberi Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy

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Claudia Bianchini Pediatric Neurology and Neurogenetics Unit and Laboratories, Meyer Children’s Hospital IRCCS, Florence, Italy

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Davide Mei Pediatric Neurology and Neurogenetics Unit and Laboratories, Meyer Children’s Hospital IRCCS, Florence, Italy

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Elena Parrini Pediatric Neurology and Neurogenetics Unit and Laboratories, Meyer Children’s Hospital IRCCS, Florence, Italy

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Tiziana Pisano Pediatric Neurology and Neurogenetics Unit and Laboratories, Meyer Children’s Hospital IRCCS, Florence, Italy

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Elena Procopio Metabolic and Muscular Unit, Meyer Children's Hospital IRCCS, Florence, Italy

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Renzo Guerrini Pediatric Neurology and Neurogenetics Unit and Laboratories, Meyer Children’s Hospital IRCCS, Florence, Italy
NEUROFARBA Department, University of Florence, Florence, Italy

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Angela Peron Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy
Department of Clinical and Experimental Biomedical Sciences “Mario Serio”, University of Florence, Florence, Italy

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Stefano Stagi Auxo-endocrinology Unit, Meyer Children's Hospital IRCCS, Florence, Italy
Department of Health Sciences, University of Florence, Florence, Italy

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Context

Cytochrome C oxidase (COX) is the fourth component of the respiratory chain and is located within the internal membrane of mitochondria. COX deficiency causes an inherited mitochondrial disease with significant genetic and phenotypic heterogeneity. Four clinical subtypes have been identified, each with distinct phenotypes and genetic variants. Mitochondrial complex IV deficiency nuclear type 4 (MC4DN4) is a form of COX deficiency associated with pathogenic variants in the SCO1 gene.

Case description

We describe three patients with MC4DN4 with developmental and epileptic encephalopathy (DEE), hypopituitarism, and SCO1 pathogenic variants. These patients’ phenotypes considerably differ from previously reported MC4DN4 phenotypes as they associate DEE with progressive hypopituitarism and survival beyond the first months after birth. Pituitary deficiency in these patients progressively worsened and mainly involved growth hormone secretion and thyroid function.

Conclusions

Our findings expand knowledge of phenotypic variability in MC4DN4 and suggest that SCO1 is a candidate gene for genetic hypopituitarism and DEE.

Significance statement

Our paper describes three patients affected by MC4DN4 with hypopituitarism and developmental and epileptic encephalopathy (DEE), two features that have never been associated with this condition. In addition, we reviewed the clinical features of all previous cases of MC4DN4 to give the other clinicians a wide picture of the clinical phenotype of this genetic disease. We hope that the publication of our data may help others to identify this disease and consider the chance to analyze the SCO1 gene in cases of DEE associated with pituitary dysfunction. Our article contributes to expanding the spectrum of genetic hypopituitarism and proposes a model to explain an association between this condition, mitochondrial anomalies, and neurodevelopmental defects.

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