ArticleThe Journal of clinical endocrinology and metabolism2015
Maternal Hypercalcemia Due to Failure of 1,25-Dihydroxyvitamin-D3 Catabolism in a Patient With CYP24A1 Mutations.
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Article in The Journal of clinical endocrinology and metabolism, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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29citing papers in PubMed
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Who cites it
29 citing papers in PubMed, 61 citations in OpenAlex.
- Optimisation of Micronutrient Supplementation During Pregnancy: Interactions Between Bioactive Compounds, Their Impact on Health, and Regulatory Considerations.Biomolecules · 2026Review
- Hypercalcemia in pregnancy secondary to pathogenic variants inObstetric medicine · 2025Article
- An Uncommon Case of Lactational Hypercalcemia With Diagnostic and Therapeutic Challenges.Cureus · 2025Article
- Hypercalcemia due toJBMR plus · 2025Article
- Maternal loss of 24-hydroxylase causes increased intestinal calcium absorption and hypercalcemia during pregnancy but reduced skeletal resorption during lactation in mice.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
- Infantile hypercalcemia type 1 (HCINF1): a rare disease resulting in nephrolithiasis and nephrocalcinosis caused by mutations in the vitamin D catabolic enzyme, CYP24A1.Journal of endocrinological investigation · 2024Review
- Consensus Statement on Vitamin D Status Assessment and Supplementation: Whys, Whens, and Hows.Endocrine reviews · 2024Article
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- Persistent hypercalcaemia associated with two pathogenic variants in theFrontiers in endocrinology · 2024Review
- A Pregnant Woman With Hypercalcemia-Induced Acute Pancreatitis.Kidney international reports · 2023Article
- Hypercalcemia in Pregnancy Due to CYP24A1 Mutations: Case Report and Review of the Literature.Nutrients · 2022Review
- Case report: Two heterozygous pathogenic variants of CYP24A1: A novel cause of hypercalcemia and nephrocalcinosis in adulthood.Frontiers in medicine · 2022Article
- Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings.The Journal of clinical endocrinology and metabolism · 2021Observational
- 24-Hydroxylase Deficiency Due toJournal of the Endocrine Society · 2021Article
- Secreted Phosphoprotein 24 is a Biomarker of Mineral Metabolism.Calcified tissue international · 2021Article
- Murine Fetal Serum Phosphorus is Set Independent of FGF23 and PTH, Except in the Presence of Maternal Phosphate Loading.Endocrinology · 2021Article
- Biallelic CYP24A1 variants presenting during pregnancy: clinical and biochemical phenotypes.Endocrine connections · 2020Article
- New aspects of vitamin D metabolism and action - addressing the skin as source and target.Nature reviews. Endocrinology · 2020Review
- Vitamin D: Newer Concepts of Its Metabolism and Function at the Basic and Clinical Level.Journal of the Endocrine Society · 2020Article
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Authors and funding
14 authors at 5 institutions in 3 countries.
Arti D ShahDivision of Endocrinology, Department of Medicine (A.D.S., E.C.H., D.S., I.B.K.), Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology and Reproductive Sciences (B.O., K.S.), and Division of Medical Genetics, Department of Medicine (R.N.), University of California, San Francisco, San Francisco, California 94143; Division of Endocrinology and Metabolism (M.Kr., S.B.-P.), Medical University of Vienna, A-1090 Vienna, Austria; Department of Biomedical and Molecular Sciences (M.Ka., G.J.), Queen's University, Kingston, Ontario, Canada K7L 3N6; Endocrine Research Unit (D.D.B., Y.M., D.S.), San Francisco Department of Veterans Affairs Medical Center; San Francisco, California 94121; and Redwood Renal Associates (A.S.M.), Eureka, California 95501.
Edward C HsiaoDivision of Endocrinology, Department of Medicine (A.D.S., E.C.H., D.S., I.B.K.), Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology and Reproductive Sciences (B.O., K.S.), and Division of Medical Genetics, Department of Medicine (R.N.), University of California, San Francisco, San Francisco, California 94143; Division of Endocrinology and Metabolism (M.Kr., S.B.-P.), Medical University of Vienna, A-1090 Vienna, Austria; Department of Biomedical and Molecular Sciences (M.Ka., G.J.), Queen's University, Kingston, Ontario, Canada K7L 3N6; Endocrine Research Unit (D.D.B., Y.M., D.S.), San Francisco Department of Veterans Affairs Medical Center; San Francisco, California 94121; and Redwood Renal Associates (A.S.M.), Eureka, California 95501.
Betsy O'DonnellDivision of Endocrinology, Department of Medicine (A.D.S., E.C.H., D.S., I.B.K.), Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology and Reproductive Sciences (B.O., K.S.), and Division of Medical Genetics, Department of Medicine (R.N.), University of California, San Francisco, San Francisco, California 94143; Division of Endocrinology and Metabolism (M.Kr., S.B.-P.), Medical University of Vienna, A-1090 Vienna, Austria; Department of Biomedical and Molecular Sciences (M.Ka., G.J.), Queen's University, Kingston, Ontario, Canada K7L 3N6; Endocrine Research Unit (D.D.B., Y.M., D.S.), San Francisco Department of Veterans Affairs Medical Center; San Francisco, California 94121; and Redwood Renal Associates (A.S.M.), Eureka, California 95501.
Kirsten SalmeenDivision of Endocrinology, Department of Medicine (A.D.S., E.C.H., D.S., I.B.K.), Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology and Reproductive Sciences (B.O., K.S.), and Division of Medical Genetics, Department of Medicine (R.N.), University of California, San Francisco, San Francisco, California 94143; Division of Endocrinology and Metabolism (M.Kr., S.B.-P.), Medical University of Vienna, A-1090 Vienna, Austria; Department of Biomedical and Molecular Sciences (M.Ka., G.J.), Queen's University, Kingston, Ontario, Canada K7L 3N6; Endocrine Research Unit (D.D.B., Y.M., D.S.), San Francisco Department of Veterans Affairs Medical Center; San Francisco, California 94121; and Redwood Renal Associates (A.S.M.), Eureka, California 95501.
Robert NussbaumDivision of Endocrinology, Department of Medicine (A.D.S., E.C.H., D.S., I.B.K.), Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology and Reproductive Sciences (B.O., K.S.), and Division of Medical Genetics, Department of Medicine (R.N.), University of California, San Francisco, San Francisco, California 94143; Division of Endocrinology and Metabolism (M.Kr., S.B.-P.), Medical University of Vienna, A-1090 Vienna, Austria; Department of Biomedical and Molecular Sciences (M.Ka., G.J.), Queen's University, Kingston, Ontario, Canada K7L 3N6; Endocrine Research Unit (D.D.B., Y.M., D.S.), San Francisco Department of Veterans Affairs Medical Center; San Francisco, California 94121; and Redwood Renal Associates (A.S.M.), Eureka, California 95501.
Michael KrebsDivision of Endocrinology, Department of Medicine (A.D.S., E.C.H., D.S., I.B.K.), Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology and Reproductive Sciences (B.O., K.S.), and Division of Medical Genetics, Department of Medicine (R.N.), University of California, San Francisco, San Francisco, California 94143; Division of Endocrinology and Metabolism (M.Kr., S.B.-P.), Medical University of Vienna, A-1090 Vienna, Austria; Department of Biomedical and Molecular Sciences (M.Ka., G.J.), Queen's University, Kingston, Ontario, Canada K7L 3N6; Endocrine Research Unit (D.D.B., Y.M., D.S.), San Francisco Department of Veterans Affairs Medical Center; San Francisco, California 94121; and Redwood Renal Associates (A.S.M.), Eureka, California 95501.
Sabina Baumgartner-ParzerDivision of Endocrinology, Department of Medicine (A.D.S., E.C.H., D.S., I.B.K.), Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology and Reproductive Sciences (B.O., K.S.), and Division of Medical Genetics, Department of Medicine (R.N.), University of California, San Francisco, San Francisco, California 94143; Division of Endocrinology and Metabolism (M.Kr., S.B.-P.), Medical University of Vienna, A-1090 Vienna, Austria; Department of Biomedical and Molecular Sciences (M.Ka., G.J.), Queen's University, Kingston, Ontario, Canada K7L 3N6; Endocrine Research Unit (D.D.B., Y.M., D.S.), San Francisco Department of Veterans Affairs Medical Center; San Francisco, California 94121; and Redwood Renal Associates (A.S.M.), Eureka, California 95501.
Martin KaufmannDivision of Endocrinology, Department of Medicine (A.D.S., E.C.H., D.S., I.B.K.), Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology and Reproductive Sciences (B.O., K.S.), and Division of Medical Genetics, Department of Medicine (R.N.), University of California, San Francisco, San Francisco, California 94143; Division of Endocrinology and Metabolism (M.Kr., S.B.-P.), Medical University of Vienna, A-1090 Vienna, Austria; Department of Biomedical and Molecular Sciences (M.Ka., G.J.), Queen's University, Kingston, Ontario, Canada K7L 3N6; Endocrine Research Unit (D.D.B., Y.M., D.S.), San Francisco Department of Veterans Affairs Medical Center; San Francisco, California 94121; and Redwood Renal Associates (A.S.M.), Eureka, California 95501.
Glenville JonesDivision of Endocrinology, Department of Medicine (A.D.S., E.C.H., D.S., I.B.K.), Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology and Reproductive Sciences (B.O., K.S.), and Division of Medical Genetics, Department of Medicine (R.N.), University of California, San Francisco, San Francisco, California 94143; Division of Endocrinology and Metabolism (M.Kr., S.B.-P.), Medical University of Vienna, A-1090 Vienna, Austria; Department of Biomedical and Molecular Sciences (M.Ka., G.J.), Queen's University, Kingston, Ontario, Canada K7L 3N6; Endocrine Research Unit (D.D.B., Y.M., D.S.), San Francisco Department of Veterans Affairs Medical Center; San Francisco, California 94121; and Redwood Renal Associates (A.S.M.), Eureka, California 95501.
Daniel D BikleDivision of Endocrinology, Department of Medicine (A.D.S., E.C.H., D.S., I.B.K.), Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology and Reproductive Sciences (B.O., K.S.), and Division of Medical Genetics, Department of Medicine (R.N.), University of California, San Francisco, San Francisco, California 94143; Division of Endocrinology and Metabolism (M.Kr., S.B.-P.), Medical University of Vienna, A-1090 Vienna, Austria; Department of Biomedical and Molecular Sciences (M.Ka., G.J.), Queen's University, Kingston, Ontario, Canada K7L 3N6; Endocrine Research Unit (D.D.B., Y.M., D.S.), San Francisco Department of Veterans Affairs Medical Center; San Francisco, California 94121; and Redwood Renal Associates (A.S.M.), Eureka, California 95501.
YongMei WangDivision of Endocrinology, Department of Medicine (A.D.S., E.C.H., D.S., I.B.K.), Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology and Reproductive Sciences (B.O., K.S.), and Division of Medical Genetics, Department of Medicine (R.N.), University of California, San Francisco, San Francisco, California 94143; Division of Endocrinology and Metabolism (M.Kr., S.B.-P.), Medical University of Vienna, A-1090 Vienna, Austria; Department of Biomedical and Molecular Sciences (M.Ka., G.J.), Queen's University, Kingston, Ontario, Canada K7L 3N6; Endocrine Research Unit (D.D.B., Y.M., D.S.), San Francisco Department of Veterans Affairs Medical Center; San Francisco, California 94121; and Redwood Renal Associates (A.S.M.), Eureka, California 95501.
Allen S MathewDivision of Endocrinology, Department of Medicine (A.D.S., E.C.H., D.S., I.B.K.), Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology and Reproductive Sciences (B.O., K.S.), and Division of Medical Genetics, Department of Medicine (R.N.), University of California, San Francisco, San Francisco, California 94143; Division of Endocrinology and Metabolism (M.Kr., S.B.-P.), Medical University of Vienna, A-1090 Vienna, Austria; Department of Biomedical and Molecular Sciences (M.Ka., G.J.), Queen's University, Kingston, Ontario, Canada K7L 3N6; Endocrine Research Unit (D.D.B., Y.M., D.S.), San Francisco Department of Veterans Affairs Medical Center; San Francisco, California 94121; and Redwood Renal Associates (A.S.M.), Eureka, California 95501.
Dolores ShobackDivision of Endocrinology, Department of Medicine (A.D.S., E.C.H., D.S., I.B.K.), Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology and Reproductive Sciences (B.O., K.S.), and Division of Medical Genetics, Department of Medicine (R.N.), University of California, San Francisco, San Francisco, California 94143; Division of Endocrinology and Metabolism (M.Kr., S.B.-P.), Medical University of Vienna, A-1090 Vienna, Austria; Department of Biomedical and Molecular Sciences (M.Ka., G.J.), Queen's University, Kingston, Ontario, Canada K7L 3N6; Endocrine Research Unit (D.D.B., Y.M., D.S.), San Francisco Department of Veterans Affairs Medical Center; San Francisco, California 94121; and Redwood Renal Associates (A.S.M.), Eureka, California 95501.
Ingrid Block-KurbischDivision of Endocrinology, Department of Medicine (A.D.S., E.C.H., D.S., I.B.K.), Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology and Reproductive Sciences (B.O., K.S.), and Division of Medical Genetics, Department of Medicine (R.N.), University of California, San Francisco, San Francisco, California 94143; Division of Endocrinology and Metabolism (M.Kr., S.B.-P.), Medical University of Vienna, A-1090 Vienna, Austria; Department of Biomedical and Molecular Sciences (M.Ka., G.J.), Queen's University, Kingston, Ontario, Canada K7L 3N6; Endocrine Research Unit (D.D.B., Y.M., D.S.), San Francisco Department of Veterans Affairs Medical Center; San Francisco, California 94121; and Redwood Renal Associates (A.S.M.), Eureka, California 95501.
University of California, San Francisco · USMedical University of Vienna · ATQueen's University · CASan Francisco VA Medical Center · USRenal Associates P. A. · US
Funding
Resource ProjectU41HG006834 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI REHM, HEIDI L · 2013 to 2020
$26.9MDIABETES, ENDOCRINOLOGY &METABOLISM TRAINING PROGRAMT32DK007418 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI EDWARD C HSIAO · 1986 to 2026
$14.3MSequencing of Newborn Blood Spot DNA to Improve and Expand Newborn ScreeningU19HD077627 · NICHD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KOENIG, BARBARA A., KWOK, PUI-YAN · 2013 to 2018
$6.6MRole of IGF-I/integrin signaling in the periosteal response to loadR01AR055924 · NIAMS · NORTHERN CALIFORNIA INSTITUTE/RES/EDU · PI BIKLE, DANIEL DAVID · 2008 to 2019
$3.5MVitamin D Receptor Coactivators in KeratinocytesR01AR050023 · NIAMS · NORTHERN CALIFORNIA INSTITUTE RES &EDUC · PI BIKLE, DANIEL DAVID · 2004 to 2014
$3.4MIGF-1 MEDIATES THE ANABOLIC EFFECTS OF PTH ON BONER01DK054793 · NIDDK · NORTHERN CALIFORNIA INSTITUTE RES &EDUC · PI BIKLE, DANIEL DAVID · 2001 to 2012
$3.1MConditional Knockout of Calcium Receptors in Bone CellsR01AR055588 · NIAMS · NORTHERN CALIFORNIA INSTITUTE/RES/EDU · PI SHOBACK, DOLORES M. · 2009 to 2013
$1.7MRole of vitamin D and calcium signaling in wound healingI01BX001066 · VA · VETERANS AFFAIRS MED CTR SAN FRANCISCO · PI BIKLE, DANIEL DAVID · 2011 to 2014
–Mechanisms Underlying Hormonal Regulation of Fracture RepairIP1BX001599 · VA · VETERANS AFFAIRS MED CTR SAN FRANCISCO · PI BIKLE, DANIEL DAVID, NISSENSON, ROBERT · 2012 to 2015
–BLRD VA I01 BX001066BLRD VA I01 BX003814BLRD VA IP1 BX001599NHGRI NIH HHS U41 HG006834NHGRI NIH HHS U41 HG006834-01A1NIAMS NIH HHS R01 AR050023NIAMS NIH HHS R01 AR055588NIAMS NIH HHS R01AR055588NIAMS NIH HHS R01 AR055924NIAMS NIH HHS R01AR055924NICHD NIH HHS 1U19HD077627-01NICHD NIH HHS U19 HD077627NIDDK NIH HHS 5T32DK007418-34NIDDK NIH HHS R01 DK054793NIDDK NIH HHS T32 DK007418
Abstract
contextCalcium metabolism changes in pregnancy and lactation to meet fetal needs, with increases in 1,25-dihydroxyvitamin D [1,25-(OH)2D] during pregnancy playing an important role. However, these changes rarely cause maternal hypercalcemia. When maternal hypercalcemia occurs, further investigation is essential, and disorders of 1,25-(OH)2D catabolism should be carefully considered in the differential diagnosis. CASE: A patient with a childhood history of recurrent renal stone disease and hypercalciuria presented with recurrent hypercalcemia and elevated 1,25-(OH)2D levels during pregnancy. Laboratory tests in the fourth pregnancy showed suppressed PTH, elevated 1,25-(OH)2D, and high-normal 25-hydroxyvitamin D levels, suggesting disordered vitamin D metabolism. Analysis revealed low 24,25-dihydroxyvitamin D3 and high 25-hydroxyvitamin D3 levels, suggesting loss of function of CYP24A1 (25-hydroxyvitamin-D3-24-hydroxylase). Gene sequencing confirmed that she was a compound heterozygote with the E143del and R396W mutations in CYP24A1.
conclusionsThis case broadens presentations of CYP24A1 mutations and hypercalcemia in pregnancy. Furthermore, it illustrates that patients with CYP24A1 mutations can maintain normal calcium levels during the steady state but can develop hypercalcemia when challenged, such as in pregnancy when 1,25-(OH)2D levels are physiologically elevated.
Indexed as
MutationAdultFemaleHumansHypercalcemiaMetabolic Networks and PathwaysNephrolithiasisPregnancyPregnancy ComplicationsVitamin DVitamin D3 24-Hydroxylase1,25-dihydroxyvitamin DCYP24A1 protein, humanVitamin DVitamin D3 24-Hydroxylase
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