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- Title
Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene.
- Authors
Abraham, Mary B.; Dong Li; Tang, Dave; O'Connell, Susan M.; McKenzie, Fiona; Ee Mun Lim; Hakonarson, Hakon; Levine, Michael A.; Choong, Catherine S.
- Abstract
Background: Hypoparathyroidism in children is a heterogeneous group with diverse genetic etiologies. To aid clinicians in the investigation and management of children with hypoparathyroidism, we describe the phenotype of a 6-year-old child with hypoparathyroidism and short stature diagnosed with Kenny-Caffey syndrome (KCS) Type 2 and the subsequent response to growth hormone (GH) treatment. Case presentation: The proband presented in the neonatal period with hypocalcemic seizures secondary to hypoparathyroidism. Her phenotype included small hands and feet, hypoplastic and dystrophic nails, hypoplastic mid-face and macrocrania. Postnatal growth was delayed but neurodevelopment was normal. A skeletal survey at 2 years of age was suggestive of KCS Type 2 and genetic testing revealed a novel de novo heterozygous mutation c.1622C > A (p.Ser541Tyr) in FAM111A. At 3 years and 2 months, her height was 80cms (SDS -3.86). She had normal overnight GH levels. GH therapy was commenced at a dose of 4.9 mg/m²/week for her short stature and low height velocity of 5cms/year. At the end of the first and second years of GH treatment, height velocity was 6.5cms/year and 7.2cms/year, respectively with maximal dose of 7.24 mg/m²/week. Conclusion: This case highlights the phenotype and the limited response to GH in a child with genetically proven KCS type 2. Long-term registries monitoring growth outcomes following GH therapy in patients with rare genetic conditions may help guide clinical decisions regarding the use and doses of GH in these conditions.
- Subjects
HYPOPARATHYROIDISM; SHORT stature; JUVENILE diseases; SOMATOTROPIN; GENETIC mutation; ETIOLOGY of diseases
- Publication
International Journal of Pediatric Endocrinology, 2017, Vol 2017, p1
- ISSN
1687-9848
- Publication type
Article
- DOI
10.1186/s13633-016-0041-7