{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T06:13:13Z","timestamp":1772777593861,"version":"3.50.1"},"reference-count":66,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T00:00:00Z","timestamp":1772496000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diseases"],"abstract":"<jats:p>Background\/Objectives: Hypoparathyroidism (HPT) is a disorder caused by the insufficient production of parathyroid hormone (PTH). Its main features include decreased serum calcium, increased serum phosphorus, and abnormal bone modeling. In children, HPT is most commonly due to genetic disorders. Among rare genetic syndromes that can include HPT in their clinical spectrum is Kenny\u2013Caffey syndrome (KCS) type 2. Conventional therapy for HPT primarily consists of oral calcium and active vitamin D metabolites. The major limitation of conventional therapy is hypercalciuria with an increased risk of nephrocalcinosis. However, a subset of patients fails to achieve the desired therapeutic response to conventional treatment; the reasons for this remain incompletely understood in some cases. The failure to achieve therapeutic targets and persistent hypercalciuria are the main indications for considering therapy with recombinant human parathyroid hormone (rhPTH). Methods: In addition to the review of the literature on rhPTH use in pediatric hypoparathyroidism, the first application of rhPTH in the treatment of genetically caused HPT in a child with Kenny\u2013Caffey syndrome type 2 (KCS2) was described. Results: In this paper, we present a two-month-old infant who received rhPTH for 14 months. A heterozygous de novo p.Ser541Pro variant in the FAM111A gene was identified through whole-genome sequencing, indicating a diagnosis of KCS2. A biological mechanism linking FAM111A protein function with a more profound disruption of parathyroid development or function was proposed, suggesting that rhPTH therapy may be particularly beneficial in KCS2 cases. Conclusions: This is the first reported use of rhPTH in a child in Serbia and the first reported use in KCS type 2. By reviewing the literature, we analyzed the conditions in which rhPTH has been used, dosing approaches and durations, requirements for concomitant conventional therapy during rhPTH treatment, and the effects of rhPTH on calciuria. We provide an overview of rhPTH use in children. Additionally, based on the pathogenic genetic variant responsible for KCS2 in our patient, we propose possible etiologic explanations. This work aims to encourage a consideration of rhPTH use in children following its official approval.<\/jats:p>","DOI":"10.3390\/diseases14030091","type":"journal-article","created":{"date-parts":[[2026,3,5]],"date-time":"2026-03-05T14:19:21Z","timestamp":1772720361000},"page":"91","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["First Reported Use of Recombinant Parathyroid Hormone in Kenny\u2013Caffey Syndrome Type 2: A Case Report and Literature Review"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-7427-9222","authenticated-orcid":false,"given":"Maja","family":"Djordjevic Milosevic","sequence":"first","affiliation":[{"name":"Institute for Mother and Child Healthcare of Serbia \u201cDr Vukan Cupic\u201d, 11070 Belgrade, Serbia"},{"name":"Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1213-4458","authenticated-orcid":false,"given":"Anita","family":"Skakic","sequence":"additional","affiliation":[{"name":"Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, 11042 Belgrade, Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Andjelkovic","sequence":"additional","affiliation":[{"name":"Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, 11042 Belgrade, Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9865-0591","authenticated-orcid":false,"given":"Angelica Maria","family":"Delgado-Vega","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics and Genomics, Karolinska University Hospital, 17164 Stockholm, Sweden"},{"name":"Department of Molecular Medicine and Surgery, Karolinska Institute, 17176 Stockholm, Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00e5kan","family":"Thonberg","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics and Genomics, Karolinska University Hospital, 17164 Stockholm, Sweden"},{"name":"Department of Molecular Medicine and Surgery, Karolinska Institute, 17176 Stockholm, Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3077-6091","authenticated-orcid":false,"given":"Kristel","family":"Klaassen","sequence":"additional","affiliation":[{"name":"Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, 11042 Belgrade, Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0369-9729","authenticated-orcid":false,"given":"Jovana","family":"Komazec","sequence":"additional","affiliation":[{"name":"Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, 11042 Belgrade, Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bozica","family":"Kecman","sequence":"additional","affiliation":[{"name":"Institute for Mother and Child Healthcare of Serbia \u201cDr Vukan Cupic\u201d, 11070 Belgrade, Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nikola","family":"Jocic","sequence":"additional","affiliation":[{"name":"Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, 11042 Belgrade, Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erik","family":"Bj\u00f6rck","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics and Genomics, Karolinska University Hospital, 17164 Stockholm, Sweden"},{"name":"Department of Molecular Medicine and Surgery, Karolinska Institute, 17176 Stockholm, Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0806-5602","authenticated-orcid":false,"given":"Anna","family":"Lindstrand","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics and Genomics, Karolinska University Hospital, 17164 Stockholm, Sweden"},{"name":"Department of Molecular Medicine and Surgery, Karolinska Institute, 17176 Stockholm, Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maja","family":"Stojiljkovic","sequence":"additional","affiliation":[{"name":"Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, 11042 Belgrade, Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,3,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"159","DOI":"10.6065\/apem.2346096.048","article-title":"Hypoparathyroidism in Children and Adolescents","volume":"28","author":"Korkmaz","year":"2023","journal-title":"Ann. Pediatr. Endocrinol. Metab."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"156335","DOI":"10.1016\/j.metabol.2025.156335","article-title":"Best Practice Recommendations for the Diagnosis and Management of Hypoparathyroidism","volume":"171","author":"Khan","year":"2025","journal-title":"Metabolism"},{"key":"ref_3","first-page":"122","article-title":"Current Treatment of Hypoparathyroidism: Theory versus Reality Waiting Guidelines for Children and Adolescents","volume":"89","author":"Soliman","year":"2018","journal-title":"Acta Biomed."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1159\/000491044","article-title":"Clinical Presentation of Hypoparathyroidism","volume":"51","author":"Giusti","year":"2019","journal-title":"Front. Horm. Res."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"e1229-43","DOI":"10.1542\/peds.2014-2173","article-title":"Optimizing bone health in children and adolescents","volume":"134","author":"Golden","year":"2014","journal-title":"Pediatrics"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"R106","DOI":"10.1186\/cc12756","article-title":"Assessment and clinical course of hypocalcemia in critical illness","volume":"17","author":"Steele","year":"2013","journal-title":"Crit. Care"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1007\/BF03346763","article-title":"Use of Parathyroid Hormone in Hypoparathyroidism","volume":"36","author":"Cusano","year":"2013","journal-title":"J. Endocrinol. Invest."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"194","DOI":"10.5114\/pedm.2019.89642","article-title":"Recombinant Parathyroid Hormone for Hypoparathyroidism in Children: A Narrative Review","volume":"25","author":"Dayal","year":"2019","journal-title":"Pediatr. Endocrinol. Diabetes Metab."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"4214","DOI":"10.1210\/jc.2002-021736","article-title":"Long-Term Treatment of Hypoparathyroidism: A Randomized Controlled Study Comparing Parathyroid Hormone-(1-34) versus Calcitriol and Calcium","volume":"88","author":"Winer","year":"2003","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1507\/endocrj.K06-053","article-title":"Effect of Parathyroid Hormone Administration in a Patient with Severe Hypoparathyroidism Caused by Gain-of-Function Mutation of Calcium-Sensing Receptor","volume":"53","author":"Shiohara","year":"2006","journal-title":"Endocr. J."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"2474","DOI":"10.1210\/jc.2005-2605","article-title":"A Hypocalcemic Child with a Novel Activating Mutation of the Calcium-Sensing Receptor Gene: Successful Treatment with Recombinant Human Parathyroid Hormone","volume":"91","author":"Mittelman","year":"2006","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1687","DOI":"10.1056\/NEJMc063043","article-title":"Recombinant PTH for Initial Management of Neonatal Hypocalcemia","volume":"356","author":"Newfield","year":"2007","journal-title":"N. Engl. J. Med."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1515\/JPEM.2008.21.4.385","article-title":"Autosomal Dominant Hypoparathyroidism with Severe Hypomagnesemia and Hypocalcemia, Successfully Treated with Recombinant PTH and Continuous Subcutaneous Magnesium Infusion","volume":"21","author":"Sanda","year":"2008","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"3389","DOI":"10.1210\/jc.2007-2552","article-title":"Effects of Once versus Twice-Daily Parathyroid Hormone 1-34 Therapy in Children with Hypoparathyroidism","volume":"93","author":"Winer","year":"2008","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1359\/jbmr.081233","article-title":"PTH(1-34) Replacement Therapy in a Child with Hypoparathyroidism Caused by a Sporadic Calcium Receptor Mutation","volume":"24","author":"Theman","year":"2009","journal-title":"J. Bone Miner. Res."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"3308","DOI":"10.1210\/jc.2011-1359","article-title":"Long-Term Results of Continuous Subcutaneous Recombinant PTH (1-34) Infusion in Children with Refractory Hypoparathyroidism","volume":"96","author":"Linglart","year":"2011","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/j.jpeds.2011.09.022","article-title":"Recombinant Parathyroid Hormone Therapy for Severe Neonatal Hypoparathyroidism","volume":"160","author":"Cho","year":"2012","journal-title":"J. Pediatr."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"2680","DOI":"10.1210\/jc.2009-2464","article-title":"Long-term treatment of 12 children with chronic hypoparathyroidism: A randomized trial comparing synthetic human parathyroid hormone 1-34 versus calcitriol and calcium","volume":"95","author":"Winer","year":"2010","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1016\/j.jpeds.2014.04.060","article-title":"Effects of Pump versus Twice-Daily Injection Delivery of Synthetic Parathyroid Hormone 1-34 in Children with Severe Congenital Hypoparathyroidism","volume":"165","author":"Winer","year":"2014","journal-title":"J. Pediatr."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1515\/jpem-2013-0159","article-title":"Teriparatide (rhPTH) Treatment in Children with Syndromic Hypoparathyroidism","volume":"27","author":"Matarazzo","year":"2014","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"e2","DOI":"10.1136\/archdischild-2016-311535.66","article-title":"Use of Teriparatide in a four year old patien with autosomal dominant hypocalcemia","volume":"101","author":"Fox","year":"2016","journal-title":"Arch. Dis. Child."},{"key":"ref_22","first-page":"6838626","article-title":"Short-Term PTH(1-34) Therapy in Children to Correct Severe Hypocalcemia and Hyperphosphatemia Due to Hypoparathyroidism: Two Case Studies","volume":"2016","author":"Mishra","year":"2016","journal-title":"Case Rep. Endocrinol."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1159\/000479867","article-title":"Continuous Subcutaneous Recombinant Parathyroid Hormone (1-34) Infusion in the Management of Childhood Hypoparathyroidism Associated with Malabsorption","volume":"89","author":"Saraff","year":"2018","journal-title":"Horm. Res. Paediatr."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/j.jpeds.2018.08.010","article-title":"Long-Term Parathyroid Hormone 1-34 Replacement Therapy in Children with Hypopara-thyroidism","volume":"203","author":"Winer","year":"2018","journal-title":"J. Pediatr."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"K13","DOI":"10.1530\/EJE-20-0710","article-title":"Recombinant Human Parathyroid Hormone (1-84) Is Effective in CASR-Associated Hypoparathyroidism","volume":"183","author":"Hawkes","year":"2020","journal-title":"Eur. J. Endocrinol."},{"key":"ref_26","doi-asserted-by":"crossref","unstructured":"Bernardor, J., Flammier, S., Cabet, S., Lemoine, S., Chapurlat, R., Molin, A., Bertholet-Thomas, A., and Bacchetta, J. (2021). Intermittent Bi-Daily Sub-Cutaneous Teriparatide Administration in Children With Hypoparathyroidism: A Single-Center Experience. Front. Pediatr., 9.","DOI":"10.3389\/fped.2021.764040"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1007\/s12020-019-02128-z","article-title":"Teriparatide (rhPTH 1-34) Treatment in the Pediatric Age: Long-Term Efficacy and Safety Data in a Cohort with Genetic Hypoparathyroidism","volume":"67","author":"Tuli","year":"2020","journal-title":"Endocrine"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"115834","DOI":"10.1016\/j.bone.2020.115834","article-title":"Recombinant Human Parathyroid Hormone (1-84) Replacement Therapy in a Child with Hypoparathyroidism","volume":"144","author":"Laurer","year":"2021","journal-title":"Bone"},{"key":"ref_29","first-page":"80","article-title":"Teriparatide Therapy in a 4-Month-Old With Severe Hypoparathyroidism","volume":"27","author":"Heh","year":"2022","journal-title":"J. Pediatr. Pharmacol. Ther."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"57","DOI":"10.5114\/pedm.2020.100402","article-title":"Ten-Year Use of Recombinant Parathyroid Hormone for the Treatment of Hypoparathyroidism in a Boy with Partial Jacobsen Syndrome","volume":"27","author":"Dayal","year":"2021","journal-title":"Pediatr. Endocrinol. Diabetes Metab."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"luae059","DOI":"10.1210\/jcemcr\/luae059","article-title":"Recombinant PTH Infusion in a Child With Sanjad-Sakati Syndrome Refractory to Conventional Therapy","volume":"2","author":"Bali","year":"2024","journal-title":"JCEM Case Rep."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"40","DOI":"10.23937\/2572-407X.151040","article-title":"Adequate 25-OH-Vitamin D Level and Calcium Intake Enhance the Efficacy of Teriparatide in Gain-of-Function Mutation in Calcium-Sensing Receptor Defect, A Case Report","volume":"11","author":"Tong","year":"2025","journal-title":"Int. Arch. Endocrinol. Clin. Res."},{"key":"ref_33","doi-asserted-by":"crossref","unstructured":"Perme, T. (2023). Central Lines and Their Complications in Neonates: A Case Report and Literature Review. Children, 11.","DOI":"10.3390\/children11010026"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"2273","DOI":"10.1210\/jc.2015-3907","article-title":"Management of Hypoparathyroidism: Summary Statement and Guidelines","volume":"101","author":"Brandi","year":"2016","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1002\/ajmg.a.61991","article-title":"Adult Chinese Twins with Kenny-Caffey Syndrome Type 2: A Potential Age-Dependent Phenotype and Review of Literature","volume":"185","author":"Cheng","year":"2021","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_36","doi-asserted-by":"crossref","unstructured":"Ohmachi, Y., Urai, S., Bando, H., Yokoi, J., Yamamoto, M., Kanie, K., Motomura, Y., Tsujimoto, Y., Sasaki, Y., and Oi, Y. (2023). Case Report: Late Middle-Aged Features of FAM111A Variant, Kenny-Caffey Syndrome Type 2-Suggestive Symptoms during a Long Follow-Up. Front. Endocrinol., 13.","DOI":"10.3389\/fendo.2022.1073173"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13633-016-0041-7","article-title":"Short Stature and Hypoparathyroidism in a Child with Kenny-Caffey Syndrome Type 2 Due to a Novel Mutation in FAM111A Gene","volume":"2017","author":"Abraham","year":"2017","journal-title":"Int. J. Pediatr. Endocrinol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"2064","DOI":"10.1038\/s41467-024-46207-w","article-title":"Dimerization-Dependent Serine Protease Activity of FAM111A Prevents Replication Fork Stalling at Topoisomerase 1 Cleavage Complexes","volume":"15","author":"Palani","year":"2024","journal-title":"Nat. Commun."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1007\/s40291-024-00720-2","article-title":"Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies","volume":"28","author":"Andjelkovic","year":"2024","journal-title":"Mol. Diagn. Ther."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"19745","DOI":"10.1038\/s41598-025-04611-2","article-title":"Genomic Profiling, Implications for Genotype-Based Treatment of 131 Patients with Phenylketonuria and Characterization of Novel p.Pro416Leu PAH Variant","volume":"15","author":"Klaassen","year":"2025","journal-title":"Sci. Rep."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1111\/cge.12751","article-title":"Molecular and Phenotypic Characteristics of Seven Novel Mutations Causing Branched-Chain Organic Acidurias","volume":"90","author":"Stojiljkovic","year":"2016","journal-title":"Clin. Genet."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"28","DOI":"10.5603\/EP.a2018.0064","article-title":"The Importance of Combined NGS and MLPA Genetic Tests for Differential Diagnosis of Maturity Onset Diabetes of the Young","volume":"70","author":"Komazec","year":"2019","journal-title":"Endokrynol. Pol."},{"key":"ref_44","doi-asserted-by":"crossref","unstructured":"Hatziagapiou, K., Sertedaki, A., Dermentzoglou, V., Popovi\u0107, N.\u010c., Lambrou, G.I., Papageorgiou, L., Thireou, T., Kanaka-Gantenbein, C., and Sakka, S.D. (2024). Kenny-Caffey Syndrome Type 2 (KCS2): A New Case Report and Patient Follow-Up Optimization. J. Clin. Med., 14.","DOI":"10.3390\/jcm14010118"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1001\/archpedi.1966.02090050133013","article-title":"Dwarfism and Cortical Thickening of Tubular Bones. Transient Hypocalcemia in a Mother and Son","volume":"111","author":"Kenny","year":"1966","journal-title":"Am. J. Dis. Child."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"436","DOI":"10.3803\/EnM.2015.30.4.436","article-title":"Hypoparathyroidism: Replacement Therapy with Parathyroid Hormone","volume":"30","author":"Rejnmark","year":"2015","journal-title":"Endocrinol. Metab."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"651","DOI":"10.20945\/2359-3997000000554","article-title":"Treatment options in hypoparathyroidism","volume":"66","author":"Sakane","year":"2022","journal-title":"Arch. Endocrinol. Metab."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"262","DOI":"10.3803\/EnM.2024.1916","article-title":"Treatment of Hypoparathyroidism by Re-Establishing the Effects of Parathyroid Hormone","volume":"39","author":"Rejnmark","year":"2024","journal-title":"Endocrinol. Metab."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1001\/jama.1996.03540080053029","article-title":"Synthetic Human Parathyroid Hormone 1-34 vs Calcitriol and Calcium in the Treatment of Hypoparathyroidism","volume":"276","author":"Winer","year":"1996","journal-title":"JAMA"},{"key":"ref_50","first-page":"499","article-title":"Teriparatide in the Management of Osteoporosis","volume":"2","author":"Bodenner","year":"2007","journal-title":"Clin. Interv. Aging"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1007\/s12098-017-2295-3","article-title":"Status Dystonicus in a Child with Familial Idiopathic Hypoparathyroidism","volume":"84","author":"Angurana","year":"2017","journal-title":"Indian J. Pediatr."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1080\/01926230252929882","article-title":"Skeletal changes in rats given daily subcutaneous injections of recombinant human parathyroid hormone (1-34) for 2 years and relevance to human safety","volume":"30","author":"Vahle","year":"2002","journal-title":"Toxicol. Pathol."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"e10665","DOI":"10.1002\/jbm4.10665","article-title":"Teriparatide and Osteosarcoma Risk: History, Science, Elimination of Boxed Warning, and Other Label Updates","volume":"6","author":"Krege","year":"2022","journal-title":"JBMR Plus"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1007\/s12020-020-02577-x","article-title":"Chronic Hypoparathyroidism and Treatment with Teriparatide","volume":"72","author":"Marcucci","year":"2021","journal-title":"Endocrine"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"e50803","DOI":"10.15252\/embr.202050803","article-title":"FAM111A Induces Nuclear Dysfunction in Disease and Viral Restriction","volume":"22","author":"Nie","year":"2021","journal-title":"EMBO Rep."},{"key":"ref_56","doi-asserted-by":"crossref","unstructured":"Welter, A.L., and Machida, Y.J. (2022). Functions and Evolution of FAM111 Serine Proteases. Front. Mol. Biosci., 9.","DOI":"10.3389\/fmolb.2022.1081166"},{"key":"ref_57","doi-asserted-by":"crossref","unstructured":"Gurung, D., Danielson, J.A., Tasnim, A., Zhang, J.-T., Zou, Y., and Liu, J.-Y. (2023). Proline Isomerization: From the Chemistry and Biology to Therapeutic Opportunities. Biology, 12.","DOI":"10.3390\/biology12071008"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"990","DOI":"10.1016\/j.ajhg.2013.04.020","article-title":"FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development","volume":"92","author":"Unger","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"e50662","DOI":"10.15252\/embr.202050662","article-title":"FAM111 Protease Activity Undermines Cellular Fitness and Is Amplified by Gain-of-Function Mutations in Human Disease","volume":"21","author":"Hoffmann","year":"2020","journal-title":"EMBO Rep."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"2615","DOI":"10.1002\/jbmr.4667","article-title":"Hypoparathyroidism: Genetics and Diagnosis","volume":"37","author":"Mannstadt","year":"2022","journal-title":"J. Bone Miner. Res."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"2586","DOI":"10.1002\/jbmr.4714","article-title":"Etiology and Pathophysiology of Hypoparathyroidism: A Narrative Review","volume":"37","author":"Pasieka","year":"2022","journal-title":"J. Bone Miner. Res."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"e2433","DOI":"10.1002\/mgg3.2433","article-title":"Further Delineation of Phenotype and Genotype of Kenny-Caffey Syndrome Type 2 (Phenotype and Genotype of KCS Type 2)","volume":"12","author":"Chen","year":"2024","journal-title":"Mol. Genet. Genomic Med."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"e70054","DOI":"10.1002\/mgg3.70054","article-title":"Phenylbutyric Acid Modulates Apoptosis and ER Stress-Related Gene Expression in Glycogen Storage Disease Type Ib In Vitro Model","volume":"13","author":"Parezanovic","year":"2025","journal-title":"Mol. Genet. Genomic Med."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1007\/s40291-025-00795-5","article-title":"Clinical and Genetic Profile of 35 Patients with Glycogen Storage Disease Type 1b: A Comparative Analysis Before and During SGLT2 Inhibitor Therapy","volume":"29","author":"Milosevic","year":"2025","journal-title":"Mol. Diagn. Ther."},{"key":"ref_65","doi-asserted-by":"crossref","unstructured":"Kalanj, J., Cobeljic, M.G., Jesic, M., Zdravkovic, V., Cvetkovic, M., Vukasinovic, N., Andjelkovic, M., and Rsovac, S. (2024). An Unusual Case of Type I Hyperlipidemia-Infant with Acute Encephalopathy, Bulging Fontanel, Vomiting and Pink Blood: A Case Report. BMC Pediatr., 24.","DOI":"10.1186\/s12887-024-05287-9"},{"key":"ref_66","doi-asserted-by":"crossref","unstructured":"Lukac, S.S., Gasic, V., Komazec, J., Grubisa, I., Popovic, L., Rasulic, I., Pavlovic, S., and Lalic, K. (2025). Role of Next-Generation Sequencing in Diagnosis of Familial Hypercholesterolemia in Serbia. Diagnostics, 15.","DOI":"10.3390\/diagnostics15101212"}],"container-title":["Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2079-9721\/14\/3\/91\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T05:15:11Z","timestamp":1772774111000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2079-9721\/14\/3\/91"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,3]]},"references-count":66,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2026,3]]}},"alternative-id":["diseases14030091"],"URL":"https:\/\/doi.org\/10.3390\/diseases14030091","relation":{},"ISSN":["2079-9721"],"issn-type":[{"value":"2079-9721","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,3]]}}}