neonatal hyperparathyroidism

BACKGROUND: Familial primary hyperparathyroidism (PHPT) includes syndromic and non-syndromic disorders. The former are characterized by the occurrence of PHPT in association with extra-parathyroid manifestations and includes multiple endocrine neoplasia (MEN) types 1, 2, and 4 syndromes, and hyperparathyroidism-jaw tumor (HPT-JT). The latter consists of familial hypocalciuric hypercalcemia (FHH) types 1, 2 and 3, neonatal severe primary hyperparathyroidism (NSHPT), and familial isolated primary hyperparathyroidism (FIHP)...

INTRODUCTION: The disorders in the metabolism of calcium can present with manifestations that strongly suggest their diagnosis; however, most of the time, the symptoms with which they are expressed are nonspecific or present only as a laboratory finding, usually hypercalcemia. Because many of these disorders have a genetic etiology, in the present study, we sequenced a selection of 55 genes encoding the principal proteins involved in the regulation of calcium metabolism. METHODS: A cohort of 79 patients with hypercalcemia were analyzed by next-generation sequencing...

BACKGROUND: Primary hyperparathyroidism (PHPT) is a common endocrine condition but rare in the pediatric and adolescent populations. The presentations can be unique, accounting for significant morbidity in the case of untimely detection. AIM: To study surgically treated pediatric PHPT retrospectively. METHODS: Surgically treated children of PHPT up to 20 years of age between 2010 to 2022 were analyzed. All of them were operated on by an endocrine surgeon and team...

PURPOSE: The primary goal was to estimate reference values of parathyroid hormone (PTH) in very low birth weight infants without severe neonatal morbidity. A secondary objective was to assess the relationship between PTH serum levels and selected laboratory markers of bone metabolism. METHODS: 92 infants with birth weight less than 1500 g met the inclusion criteria of the study. Serum levels of PTH, 25-hydroxyvitamin-D [25(OH)D], C3-epi-25(OH)D, total calcium, phosphorus, and alkaline phosphatase, and urinary levels of calcium, phosphorus, and creatinine were examined on day 14 and subsequently every two weeks till discharge...

Vitamin D deficiency can escalate prematurity bone disease in preterm infants and negatively influence their immature immunology system. Infants born at 24 + 0/7 weeks to 32 + 6/7 weeks of gestation will be considered for inclusion. Cord or vein blood samples will be obtained within 48 h after birth for 25-hydroxyvitamin D level measurements. Parathyroid hormone and interleukin-6 levels will be measured. Infants will be randomized to the monitored group (i.e., an initial dose of 1000 IU/day and possible modification) or the controlled group (i...

I-cell disease (Mucolipidosis Type II) is a rare lysosomal storage disorder caused by GNPTAB gene defects, leading to severe morbidity and mortality. The authors present the case of a neonate born at 38 wk gestational age, with suspected skeletal dysplasia during pregnancy and a complex clinical and laboratory presentation after birth. This is a rare case, and its diagnosis was made through placental pathology, which revealed the condition called mucolipidosis Type II. To the best of authors' knowledge, this is one of the few cases diagnosed in the neonatal period with placental pathology globally and the first in Canada, highlighting the significance of placental pathology for the diagnosis of these rare conditions and future counseling of the parents...

Hypocalcaemia is a common cause of neonatal seizures. Here, we present a breastfed neonate with smooth perinatal transition and no family history of seizures presenting at 3 weeks with recurrent multifocal clonic seizures. On evaluation, the neonate was found to have low iCa and total calcium. 25-hydroxy vitamin D (25(OH)D) level was low and intact parathyroid hormone (iPTH) was inappropriately normal. The maternal evaluation revealed high calcium and low phosphate levels. iPTH was very high and 25(OH)D was very low in the mother...

Hypercalcemia in pregnancy is rare and can pose a great diagnostic challenge due to its asymptomatic presentation. It is associated with maternal complications such as urolithiasis, pancreatitis, renal insufficiency and preeclampsia, fetal complications such as growth restriction and intrauterine fetal demise, and neonatal complications such as neonatal hypocalcemia, tetany and hypoparathyroidism. Prompt diagnosis and treatment of the underlying cause of hypercalcemia is important. Two cases of hypercalcemia in pregnancy were encountered over 12 months...

BACKGROUND: Primary hyperoxaluria consists of a group of inherited disorders with enzymatic defects in the glyoxylate pathway, leading to decreased oxalate metabolism. The resulting oxalic deposition is specifically responsible for kidney disease and joint disease. Neonatal oxalosis is the most severe form of primary hyperoxia type 1, with the onset of end-stage renal disease in childhood. CASE PRESENTATION: A 55-year-old hemodialysis man was referred to Nephrology because of inflammatory polyarthralgia and periarticular swelling evolving for six months...

Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion condition. The WHS core phenotype includes developmental delays, intellectual disabilities, seizures, and distinctive facial features. Various other comorbidities have also been reported, such as hearing loss, heart defects, as well as eye problems and kidney problems. In this report, we present a case of WHS accompanied by hyperparathyroidism and hypercalcemia, which has not been previously reported. A girl was born at 37 weeks of gestation by vaginal delivery...

Primary hyperparathyroidism (PHPT), a relatively common disorder characterized by hypercalcemia with raised or inappropriately normal serum parathyroid hormone (PTH) concentrations, may occur as part of a hereditary syndromic disorder or as a non-syndromic disease. The associated syndromic disorders include multiple endocrine neoplasia types 1-5 (MEN1-5) and hyperparathyroidism with jaw tumor (HPT-JT) syndromes, and the non-syndromic forms include familial hypocalciuric hypercalcemia types 1-3 (FHH1-3), familial isolated hyperparathyroidism (FIHP), and neonatal severe hyperparathyroidism (NS-HPT)...

BACKGROUND: Neonatal severe hyperparathyroidism (NSHPT) is a rare disease that can be lethal. Most patients require parathyroidectomy. OBJECTIVE: Report experience in managing this severe disease. DESIGN: Retrospective chart review of case series. SETTING: Tertiary health care center. PATIENTS AND METHODS: We reviewed data on patients managed for NSHPT from June 2001 to January 2023. Demographic, clinical, and follow-up data were collected, and descriptive data were generated...

BACKGROUND: Familial hypocalciuric hypercalcemia (FHH) is one of the conditions that should be considered in the differential diagnosis of hypercalcemia and normo-hypophosphatemia in childhood. Heterozygous Calcium-sensing receptor (CASR) gene mutations cause FHH, and homozygous CASR gene mutations cause neonatal severe primary hyperparathyroidism (NSHPT). Cinacalcet is an allosteric modulator of Calciumsensing receptor (CaSR), and has been used in the treatment of these clinical entities in recent years...

OBJECTIVE:  There is no specific recommendation for management in pregnant women: the aim of this review, based on a clinical case study, is to clarify its development, complications, risk factor and treatment. METHODS:  A review of the literature was performed by consulting the Pubmed, Cochrane Library, and Science Direct databases. RESULTS:  Primary hyperparathyroidism is defined as excessive production of parathyroid hormone resulting in hypercalcemia...

OBJECTIVE: To explore the clinical features and genetic variants in two children with neonatal severe hyperparathyroidism (NSHPT). METHODS: Two children who were diagnosed with NSHPT at the Children's Hospital Affiliated to Xi'an Jiaotong University respectively in August 2019 and April 2022 were selected as the study subjects. Clinical data were collected, and both children were subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing...

We present a 10-year follow-up and describe our experience in managing a case of neonatal severe primary hyperparathyroidism (NSHPT) for the first time in Iran. Microcephaly, mental retardation, and epilepsy may be long time sequels of NSHPT. The brain MRI findings are compatible with an old hypoxic-ischemic event.

CONTEXT: Precise estimates of the incidence of hyper and hypocalcaemia in pregnancy is unknown. Abnormal calcium levels have been associated with unfavourable pregnancy-related outcomes. OBJECTIVE: Determine frequency of hypercalcaemia and hypocalcaemia in pregnancy when tested and its association with maternal and fetal outcomes. DESIGN: Exploratory retrospective cohort study. SETTING: Single tertiary care maternity unit...

BACKGROUND/OBJECTIVE: Hypocalcemia is a common, treatable cause of neonatal seizures. The rapid repletion of calcium is essential for restoring normal calcium homeostasis and resolving seizure activity. The accepted approach to administer calcium to a hypocalcemic newborn is via peripheral or central intravenous (IV) access. CASE REPORT: We discuss a case of a 2-week-old infant who presented with hypocalcemia and status epilepticus. The etiology was determined to be neonatal hypoparathyroidism secondary to maternal hyperparathyroidism...

Neonatal severe hyperparathyroidism (NSHPT) is a rare genetic disorder that presents within the first six months of life. We present the case report of a male child who presented to us in the first month of his life with symptoms of lethargy, constipation, and reluctance to feed. One sibling of the child had died earlier with similar symptoms in the first six months of life. Upon physical examination, the child was lethargic, dehydrated, had bradycardia with hyperreflexia. Serum electrolyte analysis showed hypercalcaemia and hypophosphataemia...

Primary hyperparathyroidism in pregnancy is a rare disease that can have detrimental effects on both maternal and fetal/neonatal outcomes. The physiological changes that occur during pregnancy can complicate the diagnosis, imaging examinations, and treatment of this disorder. To enhance our understanding and management of primary hyperparathyroidism in pregnancy, experts from various fields, including endocrinology, obstetrics, surgery, ultrasonography, nuclear medicine, pediatrics, nephrology, and general practice in China, collaborated to develop a consensus addressing the critical aspects of the diagnosis and treatment of primary hyperparathyroidism in pregnancy with a multidisciplinary team approach...