ESPE2022 Poster Category 1 Pituitary, Neuroendocrinology and Puberty (77 abstracts)
A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy
Diğdem Bezen 1 , Orkide Kutlu 2 , Stephane Mouilleron 3 , Karine Rizzoti 4 , Mehul Dattani 5 , Tulay Guran 6 & Gözde Yeşil 7
1Department of Pediatrics, Pediatric Endocrinology, University of Health Sciences, Prof. Dr. Cemil Taşçıoğlu City Hospital, İstanbul, Turkey; 2Department of Internal Medicine, University of Health Sciences, Prof. Dr. Cemil Taşçıoğlu City Hospital, İstanbul, Turkey; 3Structural Biology Science Technology Platforms, The Francis Crick Institute, London, United Kingdom; 4Stem Cell Biology and Developmental Genetics Lab, The Francis Crick Institute, London, United Kingdom; 5Genetics and Genomic Medicine Research and Teaching Department, UCL GOS Institute of Child Health, London, United Kingdom; 6Marmara University, School of Medicine, Department of Pediatric Endocrinology and Diabetes, İstanbul, Turkey; 7Department of Medical Genetics, Pediatric Genetics, Istanbul University, Istanbul Medical Faculty, İstanbul, Turkey
Context: Biallelic RNPC3 variants have been reported in a few patients with growth hormone deficiency, either in isolation or in association with central hypothyroidism, congenital cataract, neuropathy, developmental delay/intellectual deficiency, hypogonadism and pituitary hypoplasia.
Objective: To describe a new case with syndromic congenital hypopituitarism and diffuse brain atrophy due to RNPC3 mutations and to compare her clinical and molecular characteristics and pituitary functions with previously published cases.
Case Report: A twenty-year-old female presented with severe growth, neuromotor and developmental delay. Her weight, height and head circumference were 5135 gr (-25.81 SDS), 68 cm (-16.17 SDS), and 34 cm (-17.03 SDS), respectively. She was prepubertal, and had dysmorphic facies, contractures and spasticity in the extremities, and severe truncal hypotonia. There were no radiological signs of a skeletal dysplasia. The bone age was extremely delayed at 2 years. Investigation of pituitary function revealed growth hormone, prolactin, and thyroid-stimulating hormone deficiencies. Whole-exome sequencing revealed a novel homozygous missense (c.1328A>G; Y443C) variant in RNPC3. Cranial MRI revealed a hypoplastic anterior pituitary with diffuse cerebral and cerebellar atrophy.
Conclusion: The Y443C variant in RNPC3 associated with syndromic congenital hypopituitarism and abnormal brain development. This report extends the RNPC3-related hypopituitarism phenotype with a severe neurodegenerative presentation.
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