{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Ohmachi Y"],"funding":["Takeda Science Foundation","Japan Society for the Promotion of Science"],"pagination":["1073173"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9846794"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["13"],"pubmed_abstract":["Kenny-Caffey syndrome type 2 (KCS2) is an extremely rare skeletal disorder involving hypoparathyroidism and short stature. It has an autosomal dominant pattern of inheritance and is caused by variants in the FAM111 trypsin-like peptidase A (<i>FAM111A</i>) gene. This disease is often difficult to diagnose due to a wide range of more common diseases manifesting hypoparathyroidism and short stature. Herein, we present the case of a 56-year-old female patient with idiopathic hypoparathyroidism and a short stature. The patient was treated for these conditions during childhood. Upon re-evaluating the etiology of KCS2, we suspected that the patient had the disorder because of clinical manifestations, such as cortical thickening and medullary stenosis of the bones, and lack of intellectual abnorm"],"journal":["Frontiers in endocrinology"],"pubmed_title":["Case report: Late middle-aged features of <i>FAM111A</i> variant, Kenny-Caffey syndrome type 2-suggestive symptoms during a long follow-up."],"pmcid":["PMC9846794"],"funding_grant_id":["21K6370, 21KK0149"],"pubmed_authors":["Yamamoto N","Shichi H","Yamamoto M","Suzuki M","Kanie K","Tsujimoto Y","Motomura Y","Yokoi J","Oi Y","Iguchi G","Sasaki Y","Ogawa W","Urai S","Ohmachi Y","Uehara N","Fukuoka H","Bando H"],"additional_accession":[]},"is_claimable":false,"name":"Case report: Late middle-aged features of <i>FAM111A</i> variant, Kenny-Caffey syndrome type 2-suggestive symptoms during a long follow-up.","description":"Kenny-Caffey syndrome type 2 (KCS2) is an extremely rare skeletal disorder involving hypoparathyroidism and short stature. It has an autosomal dominant pattern of inheritance and is caused by variants in the FAM111 trypsin-like peptidase A (<i>FAM111A</i>) gene. This disease is often difficult to diagnose due to a wide range of more common diseases manifesting hypoparathyroidism and short stature. Herein, we present the case of a 56-year-old female patient with idiopathic hypoparathyroidism and a short stature. The patient was treated for these conditions during childhood. Upon re-evaluating the etiology of KCS2, we suspected that the patient had the disorder because of clinical manifestations, such as cortical thickening and medullary stenosis of the bones, and lack of intellectual abnorm","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022","modification":"2026-05-09T03:10:53.025Z","creation":"2025-02-19T02:38:16.575Z"},"accession":"S-EPMC9846794","cross_references":{"pubmed":["36686468"],"doi":["10.3389/fendo.2022.1073173"]}}