Acromegaly as a cause of 1,25-dihydroxyvitamin D-dependent hypercalcemia: case reports and review of the literature

Shah, Reshma; Licata, Angelo A.; Oyesiku, Nelson M.; Ioachimescu, Adriana G.

doi:10.1007/s11102-010-0286-8

Cited by 32 publications

(23 citation statements)

References 31 publications

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“…High calcium level with normal PTH has been described in two acromegalic patients in whom the hypercalcemia was 1,25(OH)2D dependent (31). Whether excess GH or IGF1 increases the production of 1,25(OH)2D in humans remains to be elucidated.…”

Section: Discussionmentioning

confidence: 95%

Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations

Gannagé‐Yared

Klammt²,

Chouery

et al. 2013

European Journal of Endocrinology

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Background: Heterozygous mutations in the IGF1 receptor (IGF1R) gene lead to partial resistance to IGF1 and contribute to intrauterine growth retardation (IUGR) with postnatal growth failure. To date, homozygous mutations of this receptor have not been described. Subject: A 13.5-year-old girl born from healthy first-cousin parents presented with severe IUGR and persistent short stature. Mild intellectual impairment, dysmorphic features, acanthosis nigricans, and cardiac malformations were also present. Methods: Auxological and endocrinological profiles were measured. All coding regions of the IGF1R gene including intron boundaries were amplified and directly sequenced. Functional characterization was performed by immunoblotting using patient's fibroblasts. Results: IGF1 level was elevated at 950 ng/ml (C7 S.D.). Fasting glucose level was normal associated with high insulin levels at baseline and during an oral glucose tolerance test. Fasting triglyceride levels were elevated. Sequencing of the IGF1R gene led to the identification of a homozygous variation in exon 2: c.119GOT (p.Arg10Leu). As a consequence, IGF1-dependent receptor autophosphorylation and downstream signaling were reduced in patient's fibroblasts. Both parents were heterozygous for the mutation. Conclusion: The homozygous mutation of the IGF1R is associated with severe IUGR, dysmorphic features, and insulin resistance, while both parents were asymptomatic heterozygous carriers of the same mutation.

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Section: Discussionmentioning

confidence: 95%

Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations

Gannagé‐Yared

Klammt²,

Chouery

et al. 2013

European Journal of Endocrinology

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“…The etiology of hypercalcemia includes primary hyperparathyroidism (2, 4) or 1,25-dihydroxy-vitamin D [1,25(OH) 2 D] excess (5,6). Studies in patients treated for acromegaly have reported that posttreatment mean parathyroid hormone (PTH) levels were unchanged (2) or higher compared with baseline (7,8).…”

mentioning

confidence: 99%

Calcium and Bone Turnover Markers in Acromegaly: A Prospective, Controlled Study

Constantin

Tangpricha

Shah

et al. 2017

The Journal of Clinical Endocrinology &Amp; Metabolism

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Context: Acromegaly has been associated with calcium-phosphate and bone turnover alterations. Controlled studies of these interactions are sparse.Objective: To evaluate calcium and bone metabolism in active and treated acromegaly.Design/Setting/Patients: We conducted a controlled, prospective study at a tertiary referral center. We studied 22 patients with acromegaly referred for surgical or medical therapy (ACM) and 22 with nonfunctioning pituitary adenomas referred for surgery (control).Main Outcome Measures: Calcium (serum and urine), phosphorus, parathyroid hormone (PTH), 25-hydroxyand 1,25-dihydroxy-vitamin D, bone turnover markers [serum C-terminal telopeptide of type 1 collagen (CTX) and procollagen type 1 N-terminal propeptide (P1NP)], and cytokines [receptor activator of nuclear factor kB ligand (RANK-L) and osteoprotegerin (OPG)] at baseline and 3 to 6 months after treatment.Results: At baseline, the ACM group had lower PTH levels than controls (36.3 6 13.9 pg/mL vs 56.0 6 19.9 pg/mL) and higher phosphorus (4.34 6 0.71 mg/dL vs 3.55 6 0.50 mg/dL) (P , 0.01). Groups had similar levels of serum and urine calcium and 25-hydroxy-and 1,25-dihydroxy-vitamin D. The ACM group had higher bone turnover markers than control; P1NP and CTX were strongly correlated (r 2 = 0.82, P , 0.05). CTX was dependent on age and disease group but not on sex or gonadal status. After treatment of acromegaly, serum calcium (9.52 6 0.43 mg/dL to 9.26 6 0.28 mg/dL), phosphorus (4.34 6 0.71 mg/dL to 3.90 6 0.80 mg/dL), and CTX (0.91 6 0.75 ng/mL to 0.63 6 0.68 ng/mL) decreased, while PTH increased (36.3 6 13.9 pg/mL to 48.9 6 16.7 pg/mL) (P , 0.01). 25-hydroxy-vitamin D, P1NP, and RANK-L/OPG ratio did not change significantly. Conclusion:Acromegaly patients exhibited PTH-independent calcium-phosphate alterations and enhanced coupled bone formation and resorption. Within 6 months of treatment, bone resorption decreased, whereas RANK-L/OPG changes were inconsistent. 2416https://academic.oup.com/jcem

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“…While hypercalcemia in the setting of acromegaly is most often due to coexisting primary hyperparathyroidism, these case reports document that complete tumor resection resulted in resolution of 1,25(OH) 2 D-mediated hypercalcemia in two of three patients. 86,87 In one patient with residual tumor, the hypercalcemia did not resolve and 1,25(OH) 2 D concentrations remained elevated. 86 While the mechanism of 1,25(OH) 2 Dmediated hypercalcemia is not fully elucidated in patients with acromegaly, IGF-I has been reported as a stimulator of 1,25(OH) 2 D production in animal studies.…”

Section: 25(oh) 2 D-mediated Hypercalcemia Via Renal 1α-hydroxylasementioning

confidence: 93%

“…86,87 In one patient with residual tumor, the hypercalcemia did not resolve and 1,25(OH) 2 D concentrations remained elevated. 86 While the mechanism of 1,25(OH) 2 Dmediated hypercalcemia is not fully elucidated in patients with acromegaly, IGF-I has been reported as a stimulator of 1,25(OH) 2 D production in animal studies. 88,89…”

Section: 25(oh) 2 D-mediated Hypercalcemia Via Renal 1α-hydroxylasementioning

confidence: 93%

Hypercalcemia Associated with Local and Ectopic Hormone Production

et al. 2015

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Acromegaly as a cause of 1,25-dihydroxyvitamin D-dependent hypercalcemia: case reports and review of the literature

Cited by 32 publications

References 31 publications

Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations

Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations

Calcium and Bone Turnover Markers in Acromegaly: A Prospective, Controlled Study

Hypercalcemia Associated with Local and Ectopic Hormone Production

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