Endocrine Diseases of Newborn: Epidemiology, Pathogenesis, Therapeutic Options, and Outcome “Current Insights Into Disorders of Calcium and Phosphate in the Newborn”

Taylor-Miller, Tashunka; Allgrove, Jeremy

doi:10.3389/fped.2021.600490

Cited by 14 publications

(9 citation statements)

References 67 publications

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“…Fetal calcium concentrations are regulated by the calcium sensing receptor (CaSR) being primarily expressed in the fetal parathyroid gland and kidney. By the 10th week of gestation, PTH is synthesized by the fetal parathyroid gland, but circulating concentrations are low during fetal life due to relative hypercalcemia dictated by the CaSR receptor (Taylor‐Miller & Allgrove, 2021 ).…”

Section: Discussionmentioning

confidence: 99%

Vitamin D and parathyroid hormone in the umbilical cord blood – Correlation with light and dark maternal skin color

Wille

Richard

Nieters

et al. 2022

Food Science & Nutrition

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During pregnancy, vitamin D deficiency is associated with negative health consequences for mother and child. Furthermore, dark skin color is associated with lower vitamin D levels. We investigated 25‐hydroxy‐vitamin D (25(OH)D) and parathyroid hormone (PTH) levels in mothers and in cord blood of their newborns depending on maternal skin color. We recruited 202 mother and child pairs at the University Hospital Zurich and measured 25(OH)D and PTH concentrations in maternal and postpartum umbilical cord blood. Skin type was self‐reported based on the Fitzpatrick Scale (type I to V). Uni‐ and multivariate methods were used to compare the maternal and neonatal 25(OH)D and PTH levels by skin type (light: I–III vs. dark: IV–V). As many as 54.5% of all mothers and 41.1% of the neonates were 25(OH)D deficient. This was higher in the neonates of dark‐skinned (55.9%) than in the neonates of light‐skinned mothers (38.1%; p = .06). The correlation of 25(OH)D in the maternal with umbilical cord blood was high (light: r = 0.85, dark: r = 0.87), with higher concentrations of 25(OH) vitamin D in the umbilical cord than in maternal blood. Regression analysis revealed that country of origin and maternal 25(OH)D concentration were the only statistically significant determinants for umbilical cord blood 25(OH)D. We observed no correlation of maternal with umbilical cord PTH concentrations; median PTH concentrations in the umbilical cord (5.6 pg/ml) were significantly lower than in maternal blood (25.7 pg/ml). The recommendation of vitamin D supplementation in newborns in their first 3 years of life should be particularly emphasized to dark‐skinned mothers.

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Section: Discussionmentioning

confidence: 99%

Vitamin D and parathyroid hormone in the umbilical cord blood – Correlation with light and dark maternal skin color

Wille

Richard

Nieters

et al. 2022

Food Science & Nutrition

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“…HSH results in electrolyte abnormalities shortly after birth ( 32 ). Although the mild hypomagnesemia has been described with transient hypoparathyroidism ( 40 , 41 ) in the neonatal period. A recurrent hypomagnesemia should be concerning.…”

Section: Discussionmentioning

confidence: 99%

Case Report: Novel TRPM6 Mutations Cause Hereditary Hypomagnesemia With Secondary Hypocalcemia in a Chinese Family and a Literature Review

et al. 2022

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BackgroundHereditary hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disease due to biallelic TRPM6 mutations. Although the reports of HSH caused by TRPM6 mutations are not very rare, the age of onset in previously reported HSH cases were <1 year.MethodsWe collected and analyzed the clinical data of twin brothers with onset age over 1 year old and performed whole exome sequencing in the patients and their parents. Confirmed by Sanger sequencing, missense mutation was analyzed in silico. We also searched Pubmed, and extracted clinical data from case reports and case series with full text in English, reporting original data of patients with TRPM6 mutations.ResultsThe twin patients had canonical HSH phenotype with compound novel TRPM6 mutations, p.T87K and c.705dupT, inherited from their father and mother, respectively. T87 is a highly conserved site and T87K is predicted to cause hydrogen bond disruption. We identified 26 articles published between May 28, 2002 to December 31, 2021 which reported a total of 88 patients with TRPM6 mutation. We found that the most common clinical phenotypes were hypomagnesemia, hypocalcemia, and convulsions. However, the age of onset in HSH patients almost always occurred under 12 months old, the twin patients of our study were 18 and 26 months old at onset.ConclusionWe identified two novel TRPM6 mutations in a Chinses family with HSH, and showed that the age of onset with c.704c-c.705(exon7)insT and c.260(exon4)C>A mutation in TRPM6 was much later than other mutations and would be much less serious.

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“…Measurement of 1,25(OH) 2 D is helpful in the investigation of patients with unexplained hypercalcaemia, sarcoidosis, granulomatous disorders, pseudo-vitamin D deficiency, rickets, tumour-induced osteomalacia, hyperparatiroidism, and CYP24A1 deficiency [20]. Moreover, measurement of this vitamin D metabolite can be helpful to differentiate between FGF23-dependent and -independent phosphopenic rickets [157]. Levels of 1,25(OH) 2 D are usually low in CKD, but its measurement has only been recommended when patients present severe and progressive hyperparathyroidism [158].…”

Section: Indicationsmentioning

confidence: 99%

“…Moreover, measurement of this vitamin D metabolite can be helpful to differentiate between FGF23-dependent and -independent phosphopenic rickets [157]. Levels of 1,25(OH) 2 D are usually low in CKD, but its measurement has only been recommended when patients present severe and progressive hyperparathyroidism [158].…”

Section: Indicationsmentioning

confidence: 99%

Vitamin D Metabolites: Analytical Challenges and Clinical Relevance

et al. 2022

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Recent research activities have provided new insights in vitamin D metabolism in various conditions. Furthermore, substantial progress has been made in the analysis of vitamin D metabolites and related biomarkers, such as vitamin D binding protein. Liquid chromatography tandem mass spectrometric (LC–MS/MS) methods are capable of accurately measuring multiple vitamin D metabolites in parallel. Nevertheless, only 25(OH)D and the biologically active form 1,25(OH)2D are routinely measured in clinical practice. While 25(OH)D remains the analyte of choice for the diagnosis of vitamin D deficiency, 1,25(OH)2D is only recommended in a few conditions with a dysregulated D metabolism. 24,25(OH)2D, free and bioavailable 25(OH)D, and the vitamin D metabolite ratio (VMR) have shown promising results, but technical pitfalls in their quantification, limited clinical data and the lack of reference values, impede their use in clinical practice. LC–MS/MS is the preferred method for the measurement of all vitamin D related analytes as it offers high sensitivity and specificity. In particular, 25(OH)D and 24,25(OH)2D can accurately be measured with this technology. When interpreted together, they seem to provide a functional measure of vitamin D metabolism beyond the analysis of 25(OH)D alone. The determination of VDBP, free and bioavailable 25(OH)D is compromised by unresolved analytical issues, lacking reference intervals and insufficient clinical data. Therefore, future research activities should focus on analytical standardization and exploration of their clinical value. This review provides an overview on established and new vitamin D related biomarkers including their pathophysiological role, preanalytical and analytical aspects, expected values, indications and influencing conditions.

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Endocrine Diseases of Newborn: Epidemiology, Pathogenesis, Therapeutic Options, and Outcome “Current Insights Into Disorders of Calcium and Phosphate in the Newborn”

Cited by 14 publications

References 67 publications

Vitamin D and parathyroid hormone in the umbilical cord blood – Correlation with light and dark maternal skin color

Vitamin D and parathyroid hormone in the umbilical cord blood – Correlation with light and dark maternal skin color

Case Report: Novel TRPM6 Mutations Cause Hereditary Hypomagnesemia With Secondary Hypocalcemia in a Chinese Family and a Literature Review

Vitamin D Metabolites: Analytical Challenges and Clinical Relevance

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