Elena Tsourdi, Athanasios D Anastasilakis
Pregnancy and lactation are characterized by sophisticated adaptations of calcium homeostasis, aiming to meet fetal, neonatal, and maternal calcium requirements. Pregnancy is primarily characterized by an enhancement of intestinal calcium absorption, whereas during lactation additional calcium is obtained through resorption from the maternal skeleton, a process which leads to bone loss but is reversible following weaning. These maternal adaptations during pregnancy and lactation may influence or confound the presentation, diagnosis, and management of parathyroid disorders such as primary hyperparathyroidism or hypoparathyroidism...
April 26, 2021: Biomedicines
Hedieh Khalatbari, Safia H E Cheeney, Scott C Manning, Marguerite T Parisi
Hyperparathyroidism, due to increased secretion of parathyroid hormones, may be primary, secondary or tertiary. Most pediatric patients with sporadic primary hyperparathyroidism will be symptomatic, presenting with either end-organ damage or nonspecific symptoms. In younger patients with primary hyperparathyroidism, there is a higher prevalence of familial hyperparathyroidism including germline inactivating mutations of the calcium-sensing receptor genes that result in either neonatal severe hyperparathyroidism or familial hypocalciuric hypercalcemia...
April 27, 2021: Pediatric Radiology
Katsuo Tao, Midori Awazu, Misa Honda, Hironori Shibata, Takayasu Mori, Shinichi Uchida, Tomonobu Hasegawa, Tomohiro Ishii
Summary: We report a male infant with congenital nephrogenic diabetes insipidus (NDI) who presented with hypercalcemia and hyperphosphatemia since birth. Serum sodium started to increase at 39 days. Although there was no polyuria, urine osmolality was 71 mOsm/kg, when serum osmolality was 296 mOsm/kg with plasma arginine vasopressin 22.5 pg/mL. He was thus diagnosed as NDI. An undetectable level of urine calcium and unsuppressed intact parathyroid hormone suggested hyperparathyroidism including calcium-sensing receptor mutations that could cause hypercalcemia-induced NDI...
April 1, 2021: Endocrinology, Diabetes & Metabolism Case Reports
Parith Wongkittichote, Garland Michael Upchurch, Louis P Dehner, Timothy Wood, Jorge L Granadillo
Mucolipidosis type II (MLII, MIM 252500) is a lysosomal storage disorders caused by defects in GNPTAB gene which encodes alpha and beta subunits of N -acetylglucosamine (GlcNAc)-1-phosphotransferase. Neonatal presentation includes coarse facial features, restricted postnatal growth, generalized hypotonia, gingival hypertrophy and multiple skeletal anomalies. Here we present a case of a 26-week gestational age preterm infant with MLII who did not exhibit the typical facial features at birth; however, the diagnosis was suggested from abnormal placental pathology showing trophoblastic lipidosis and initial skeletal abnormalities from chest radiograph revealing generalized diffuse severe bone demineralizing disease and multiple fractures...
June 2021: Molecular Genetics and Metabolism Reports
T L Leunbach, A T Hansen, M Madsen, R Cipliene, P S Christensen, A J Schou
We report a boy with hypercalcemia due to neonatal severe hyperparathyroidism (NSHPT) caused by a compound heterozygous mutation in the calcium sensing receptor (CaSR) managed successfully on a type II calcimimetic drug. The hypercalcemia was temporarily treated by hyperhydration, bisphosphonate and calcium depleted milk. At 29 days of age cinacalcet was introduced. The starting dose was 0.5 mg/kg/day and was subsequently titrated to the point of efficacy (5.2 mg/kg/day) when a persuasive reduction in parathyroid hormone and calcium concentrations was observed...
June 2021: Bone Reports
Dalal Ali, Patrick Divilly, Ruth Prichard, Dermot O'Toole, Donal O'Shea, Rachel K Crowley
Summary: Multiple endocrine neoplasia type 1 (MEN1) is a rare inherited endocrine disorder with a high rate of penetrance. The incidence of MEN1 is 1/30,000 in the general population; however, it is quite rare for a patient to present for medical attention with MEN1 for the first time in pregnancy. Primary hyperparathyroidism (PHPT) is one of the most common features of MEN1. The incidence of PHPT occurring in pregnancy is 1%. Despite advances in the medical, surgical and obstetric care over the years, management of this condition during pregnancy may be challenging...
February 17, 2021: Endocrinology, Diabetes & Metabolism Case Reports
Judit Tőke, Gábor Czirják, Péter Enyedi, Miklós Tóth
The calcium-sensing receptor (CaSR) provides the major mechanism for the detection of extracellular calcium concentration in several cell types, via the induction of G-protein-coupled signalling. Accordingly, CaSR plays a pivotal role in calcium homeostasis, and the CaSR gene defects are related to diseases characterized by serum calcium level changes. Activating mutations of the CaSR gene cause enhanced sensitivity to extracellular calcium concentration resulting in autosomal dominant hypocalcemia or Bartter-syndrome type V...
February 2, 2021: Endocrine
Azka Latif, Alheli Arce Gastelum, Kinaan Farhan, Sunil Jagadesh, Sangeeta Mutnuri
Primary hyperparathyroidism is rare in pregnancy, with an incidence of 1%. It is associated with maternal, fetal, and neonatal complications. Herein, we present two patients with gestational primary hyperparathyroidism who failed medical management and underwent successful parathyroidectomy. Based on our experience and review of the literature, gestational hyperparathyroidism appears to be a clear indication for early parathyroidectomy in both symptomatic and asymptomatic patients.
October 28, 2020: Proceedings of the Baylor University Medical Center
Anna M Gorbacheva, Anna K Eremkina, Natalya G Mokrysheva
Primary hyperparathyroidism is a common disorder of mineral homeostasis, characterized by overproduction of parathyroid hormone and upper normal or elevated calcium levels due to hyperplasia or a tumor of parathyroid gland. 90−95% of cases of primary hyperparathyroidism are sporadic, while hereditary genetic forms occur in 5–10% of all cases. Primary hyperparathyroidism as the component of hereditary syndromes can present in various clinical forms (asymptomatic, symptomatic), can be associated with other endocrine or non-endocrine diseases, and require special approaches to treatment...
August 4, 2020: Problemy E̊ndokrinologii
Qian Dong, Fuying Song, Mu Du, Mingfang Qiu, Xiaobo Chen
OBJECTIVE: To explore the genetic basis for a child with neonatal severe hyperparathyroidism. METHODS: Genomic DNA was extracted from peripheral blood samples from the patient and her parents. Whole exome sequencing was carried out to screen potential mutations. Suspected mutation was verified by Sanger sequencing. RESULTS: The proband was found to carry compound heterozygous variants c.179G>A (p.Cys60Tyr) and c.1525G>A (p.Gly509Arg) of the CaSR gene...
November 10, 2020: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Sinem Gulcan-Kersin, Tarik Kirkgoz, Mehmet Eltan, Turkay Rzayev, Pinar Ata, Hulya Bilgen, Eren Ozek, Abdullah Bereket, Serap Turan
INTRODUCTION: Neonatal severe hyperparathyroidism (NSHPT) is a rare cause of neonatal hypercalcemia caused by a loss of function mutation in the calcium-sensing receptor (CaSR). Hypercalcemia in NSHPT can be life-threatening. Maintenance of serum calcium within a safe range is the primary goal of treatment through hydration, forced diuresis, and bisphosphonate treatment, nevertheless most cases require parathyroidectomy. We report a case with NSHPT diagnosed on the first day of life (DoL) and successfully treated with cinacalcet as the first-line treatment from the 2nd DoL up to the age of 18 months...
November 4, 2020: Hormone Research in Pædiatrics
GianLuca Colussi, Cristiana Catena, Lorenza Driul, Francesca Pezzutto, Valentina Fagotto, Daniele Darsiè, Gretta V Badillo-Pazmay, Giulio Romano, Paola E Cogo, Leonardo A Sechi
BACKGROUND: Preeclampsia has been associated with features of secondary hyperparathyroidism. In this study, we examine the relationships of calcium metabolism with blood pressure (BP) in preeclamptic women and in a control group of normal (NORM) pregnancies in the postpartum. METHODS: Sixty-three consecutive preeclamptic women (age 35 ± 6 years) were studied 4 weeks after delivery. We collected clinical and lab information on pregnancy and neonates and measured plasma and urinary calcium and phosphate, plasma parathyroid hormone (PTH) and 25-hydroxy vitamin D [25(OH)D], and performed 24-h ambulatory BP monitoring...
October 6, 2020: Journal of Hypertension
Dhalapathy Sadacharan, Shriraam Mahadevan, Smitha S Rao, A Prem Kumar, S Swathi, Senthil Kumar, Subramanian Kannan
Context: Neonatal severe primary hyperparathyroidism (NSPHPT) is an extremely rare autosomal recessive disorder, requiring a high index of suspicion. Infants affected with this disorder present with severe life-threatening hypercalcemia early in life, requiring adequate preoperative medical management followed by surgery. Aims: We report four newborns with NSPHPT who were managed over 10 years. Subjects and Methods: Demography, clinical presentation, treatment, and follow-up data were retrospectively studied with descriptive analysis to highlight the utility of long-term medical management, surgery, and genetic testing reported in the literature...
March 2020: Indian Journal of Endocrinology and Metabolism
Yoshiro Suzuki, Hirotake Sawada, Tomoko Tokumasu, Shigeru Suzuki, Shinsuke Ninomiya, Masaru Shirai, Tokuo Mukai, Claire T Saito, Gen Nishimura, Makoto Tominaga
Maternal-fetal calcium (Ca2+ ) transport in the placenta plays a critical role in maintaining fetal bone mineralization. Mutations in the gene encoding the transient receptor potential cation channel, subfamily V, member 6 (TRPV6) have been identified as causative mutations of transient neonatal hyperparathyroidism due to insufficient maternal-fetal Ca2+ transport in the placenta. In this study, we found two novel mutations in subjects that have transient neonatal hyperparathyroidism. TRPV6 carrying the mutation p...
July 9, 2020: Journal of Physiological Sciences: JPS
Ramin Jamshidi, J Craig Egan
Parathyroid glands are critical for calcium and phosphate homeostasis. Parathyroid disease is relatively rare in the pediatric population, but there are some important pediatric-specific considerations and conditions. This article reviews parathyroid physiology, disorders of hyper- and hypo- function, operative management, and uniquely pediatric diagnoses such as neonatal severe hyperparathyroidism. Advances in preoperative imaging, intra-operative gland identification, and management of post-thyroidectomy hypocalcemia are also presented in detail...
June 2020: Seminars in Pediatric Surgery
Prudence Hogg, Michael Thompson, John Burgess
CONTEXT: Multiple endocrine neoplasia type 1 (MEN 1) is characterized by multisystem neoplasia including primary hyperparathyroidism and pituitary adenoma. Despite the adolescent onset of endocrinopathies, information regarding the impact of maternal MEN 1 on pregnancy is limited to case reports. OBJECTIVE: To explore pregnancy outcomes in MEN 1 positive women. METHODS: Retrospective case series of maternofoetal outcomes MEN 1 positive mothers managed at the Royal Hobart Hospital between 1967 and 2018...
October 2020: Clinical Endocrinology
Laurens Veldeman, Saskia Robbrecht, Jeroen Breckpot, Birgit Weynand, Brigitte Decallonne
We describe the case of an adult female patient with symptomatic familial hypocalciuric hypercalcemia requiring a step-wise therapeutic approach and the eventual need for a total parathyroidectomy and thyroidectomy to cure symptoms. Genetic analysis demonstrated a heterozygous R227L inactivating CASR gene variant, previously only described in neonatal severe hyperparathyroidism. Post-operative histology showed diffuse hyperplasia of all four parathyroid glands along with the presence of intrathyroidal parathyroid tissue...
April 19, 2020: Calcified Tissue International
Gabrielle Cassir, Corey Sermer, Ann Kinga Malinowski
OBJECTIVE: We sought to describe the maternal, fetal, and neonatal outcomes of primary hyperparathyroidism in a contemporary setting through a retrospective case series conducted in a tertiary referral centre focused on women diagnosed with primary hyperparathyroidism prior to conception, in the antepartum period, or within 6 weeks postpartum. METHODS: A retrospective chart review was conducted and data were abstracted to case report forms. Summary statistics are reported...
June 2020: Journal of Obstetrics and Gynaecology Canada: JOGC
Sara Shopland, Alberto Rodriguez Barbon, Sam Cotton, Harriet Whitford, Michelle Barrows
The Mauritian pink pigeon ( Nesoenas mayeri ) is vulnerable, with only 400 individuals remaining in the free-living population. A European captive population was established in 1977 and a European Endangered Species Program (EEP) in 1992. The EEP long-term management plan recommends integrating the EEP and free-living Mauritius populations through pigeon transfers. A retrospective mortality review of the captive population was performed as part of a disease risk assessment process and to inform infectious disease screening prior to exporting captive birds to Mauritius...
March 17, 2020: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
Eyad Almidani, Weam Elsidawi, Abdulaziz Almohamedi, Ibrahim Bin Ahmed, Abdulrahman Alfadhel
Transit neonatal hyperparathyroidism (TNHP) is a very rare recessive mutation in the calcium channel transporter. TNHP is defined as an impairment of calcium transportation from the mother to the fetus prenatally and mainly in the third trimester. TNHP classically presents with skeletal deformities and subsequently affects multiple systems. TNHP has been linked to a mutation in the transient receptor potential cation channel, subfamily V, member 6 ​(​TRPV6). We report a case of a full-term male infant diagnosed with TNHP prenatally from a medically free mother...
February 15, 2020: Curēus
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read

Save your favorite articles in one place with a free QxMD account.


Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"