Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene.
Mary B AbrahamDong LiDave TangSusan M O'ConnellFiona McKenzieEe Mun LimHakon HakonarsonMichael A LevineCatherine S ChoongPublished in: International journal of pediatric endocrinology (2017)
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.