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An unusual case of autonomous hyperparathyroidism in a patient with X-linked hypophosphatemic rickets and kallmann syndrome

Show simple item record Nabbout L.A.-K. Salti I.S. Choucair M.K.
dc.contributor.editor Feb-2009 2017-10-05T15:37:37Z 2017-10-05T15:37:37Z 2009
dc.identifier 10.1097/MAJ.0b013e31816ecb00
dc.identifier.issn 00029629
dc.description.abstract We are reporting an unusual patient who presented to our medical center at 18 years of age for evaluation of disabling bilateral lower extremity deformity and delayed puberty. Extensive clinical, laboratory, and radiologic evaluation confirmed the coexistence of 2 X-linked inherited disorders, X-linked hypophosphatemic rickets (XLH) and Kallmann syndrome (KS). Treatment with oral phosphate and calcitriol along with intramuscular testosterone injections was initiated. Despite a dramatic response, the course of treatment was complicated by secondary hyperparathyroidism and, 13 years later, by the development of an autonomous parathyroid adenoma that was surgically resected. Furthermore, the coexistence of XLH and KS has not been reported before. We believe that the proximity of the KAL-1 gene (Xp 22.3), involved in the pathogenesis of KS, to the phosphate regulating endopeptidase on the X chromosome gene (Xp 22.1-22.2), involved in XLH, might be responsible for this association. © Copyright 2009 Southern Society for Clinical Investigation.
dc.format.extent Pages: (134-137)
dc.language English
dc.publisher PHILADELPHIA
dc.relation.ispartof Publication Name: American Journal of the Medical Sciences; Publication Year: 2009; Volume: 337; no. 2; Pages: (134-137);
dc.source Scopus
dc.title An unusual case of autonomous hyperparathyroidism in a patient with X-linked hypophosphatemic rickets and kallmann syndrome
dc.type Article
dc.contributor.affiliation Nabbout, L.A.-K., Department of Medicine, Division of Endocrinology and Metabolism, American University of Beirut Medical Center, Beirut, Lebanon
dc.contributor.affiliation Salti, I.S., Department of Medicine, Division of Endocrinology and Metabolism, American University of Beirut Medical Center, Beirut, Lebanon
dc.contributor.affiliation Choucair, M.K., Department of Medicine, Division of Endocrinology and Metabolism, American University of Beirut Medical Center, Beirut, Lebanon
dc.contributor.authorAddress Salti, I. S.; Department of Medicine, Division of Endocrinology and Metabolism, American University of Beirut Medical Center, Beirut, Lebanon; email:
dc.contributor.authorCorporate University: American University of Beirut Medical Center; Faculty: Faculty of Medicine; Department: Internal Medicine; Division: Endocrinology;
dc.contributor.authorDepartment Internal Medicine
dc.contributor.authorDivision Endocrinology
dc.contributor.authorFaculty Faculty of Medicine
dc.contributor.authorInitials Nabbout, LAK
dc.contributor.authorInitials Salti, IS
dc.contributor.authorInitials Choucair, MK
dc.contributor.authorReprintAddress Salti, IS (reprint author), Amer Univ Beirut, Med Ctr, Dept Med, Div Endocrinol and Metab, Riad El Solh St,POB 11-0236, Beirut, Lebanon.
dc.contributor.authorUniversity American University of Beirut Medical Center
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dc.description.citedCount 1
dc.description.citedTotWOSCount 0
dc.description.citedWOSCount 0
dc.format.extentCount 4
dc.identifier.coden AJMSA
dc.identifier.pubmedID 19214032
dc.identifier.scopusID 61849136178
dc.publisher.address 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
dc.relation.ispartOfISOAbbr Am. J. Med. Sci.
dc.relation.ispartOfIssue 2
dc.relation.ispartofPubTitle American Journal of the Medical Sciences
dc.relation.ispartofPubTitleAbbr Am. J. Med. Sci.
dc.relation.ispartOfVolume 337
dc.source.ID WOS:000263487900014
dc.type.publication Journal
dc.subject.otherAuthKeyword Hyperparathyroidism
dc.subject.otherAuthKeyword Hypophosphatemic rickets
dc.subject.otherAuthKeyword Kallmann syndrome
dc.subject.otherChemCAS calcitriol, 32222-06-3, 32511-63-0, 66772-14-3
dc.subject.otherChemCAS phosphate, 14066-19-4, 14265-44-2
dc.subject.otherChemCAS testosterone, 58-22-0
dc.subject.otherChemCAS alkaline phosphatase, 9001-78-9
dc.subject.otherChemCAS calcium, 7440-70-2
dc.subject.otherChemCAS parathyroid hormone, 12584-96-2, 68893-82-3, 9002-64-6
dc.subject.otherChemCAS phosphorus, 7723-14-0
dc.subject.otherChemCAS Alkaline Phosphatase, EC
dc.subject.otherChemCAS Calcium, 7440-70-2
dc.subject.otherChemCAS Parathyroid Hormone
dc.subject.otherChemCAS Phosphates
dc.subject.otherChemCAS Phosphorus, 7723-14-0
dc.subject.otherIndex calcitriol
dc.subject.otherIndex phosphate
dc.subject.otherIndex testosterone
dc.subject.otherIndex alkaline phosphatase
dc.subject.otherIndex calcium
dc.subject.otherIndex parathyroid hormone
dc.subject.otherIndex phosphorus
dc.subject.otherIndex adult
dc.subject.otherIndex anamnesis
dc.subject.otherIndex article
dc.subject.otherIndex case report
dc.subject.otherIndex clinical assessment
dc.subject.otherIndex clinical feature
dc.subject.otherIndex human
dc.subject.otherIndex Kallmann syndrome
dc.subject.otherIndex laboratory test
dc.subject.otherIndex male
dc.subject.otherIndex osteotomy
dc.subject.otherIndex parathyroid adenoma
dc.subject.otherIndex secondary hyperparathyroidism
dc.subject.otherIndex treatment response
dc.subject.otherIndex X chromosome
dc.subject.otherIndex X linked hypophosphatemic rickets
dc.subject.otherIndex adolescent
dc.subject.otherIndex blood
dc.subject.otherIndex genetics
dc.subject.otherIndex time
dc.subject.otherIndex Adolescent
dc.subject.otherIndex Alkaline Phosphatase
dc.subject.otherIndex Calcium
dc.subject.otherIndex Humans
dc.subject.otherIndex Hyperparathyroidism, Secondary
dc.subject.otherIndex Hypophosphatemic Rickets, X-Linked Dominant
dc.subject.otherIndex Kallmann Syndrome
dc.subject.otherIndex Male
dc.subject.otherIndex Parathyroid Hormone
dc.subject.otherIndex Phosphates
dc.subject.otherIndex Phosphorus
dc.subject.otherIndex Time Factors
dc.subject.otherKeywordPlus SERUM PARATHYROID-HORMONE
dc.subject.otherKeywordPlus D RESISTANT RICKETS
dc.subject.otherKeywordPlus VITAMIN-D
dc.subject.otherKeywordPlus PHOSPHATE
dc.subject.otherKeywordPlus THERAPY
dc.subject.otherKeywordPlus PHOSPHORUS
dc.subject.otherKeywordPlus EXPRESSION
dc.subject.otherKeywordPlus RISK
dc.subject.otherKeywordPlus GENE
dc.subject.otherWOS Medicine, General and Internal

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