Endocrine Abstracts

Vitamin D deficiency is a worldwide health problem. The lack of appreciation of the importance of sensible sun exposure for providing children and adults with their vitamin D requirement has led to a worldwide vitamin D deficiency pandemic,vitamin D deficiency can have a negative influence on bone development, causing not only rickets, but also interfering with attainment of genetically programmed height.Aim of the study: To assess vitamin D status among...

Background: Secondary hyperparathyroidism (SHPT) is an early complication of chronic kidney disease (CKD). Maintaining the level of 25(OH)D and parathyroid hormone concentrations in the target range reduce its associated complications (fractures and cardiovascular calcification).Aims: To examine the effectiveness of vitamin D supplementation and selective vitamin D receptor agonists treatment on SHPT in CKD.Materials and methods: P...

Issues: This is non-interventional, Demographic, observational study in asian population. Osteoporosis common in Developing-nations. Not-a-single Center exist designated for diagnosis/treatment. No proper epidemiological, mortality/morbidity data available. In asian population Osteoporosis is diagnosed at advanced stage hence poor-prognosis. Worsened by High incidence of malnourished. Increased awareness/improved diagnosis needed to identify cases.Aim: T...

Introduction: Vitamin D deficiency seems to be common in pregnant women and would be associated with an increased risk of maternal and fetal poor outcomes.Aim of the study: Determine the prevalence and the main risk factors for vitamin D deficiency in pregnant women living in a locality of Algiers.Material and method: It is a cross-sectional prospective and descriptive study. 310 pregnant women of west Algiers were followed during ...

Calcium is important for physiological functioning in many tissues and is essential in mucus secretion. Previously reported, Mucin secretion is regulated predominantly by cytosolic calcium-dependent pathways. Cytosolic of calcium are regulated by calcium channels such as TRPV6, NCX1, and PMCA1. A549 cell line was treated with 10−8 M dexamethasone (DEX) and 10−6 M RU486. Subsequently, the expression of TRPV6, NCX1, and PMCA1 in A549 cell line w...

Introduction: Dexamethasone inhibits mucin secretion considering the primary option for treating acute asthma exacerbation. However, the mechanism underlying dexamethasone-induced decreased in mucosecretion is unclear. Recent studies have reported that dexamethasone exerts an inhibitory effect on mucosecretion in the lung by modulating the expression of calcium-processing genes. However, the expression of the calcium-processing genes in trachea are not examined yet. Thus, the ...

The cytosolic calcium concentration is regulated by calcium-processing proteins such as transient receptor potential cation channel subfamily V member 5 (TRPV5), TRPV6, sodium-calcium exchanger 1 (NCX1) and plasma membrane Ca2+ ATPase 1 (PMCA1). Those calcium-processing proteins are important for physiological functions in the brain. The effects of steroid hormones on calcium-processing protein expressions in the brains are undescribed. Thus, the effects of steroid ...

Calbindin-D9k (CaBP-9k), one of the major calcium-binding and calcium-buffering proteins, is important in the physiological functioning of organs. The neuroanatomical localization of CaBP-9k in the rodent brain has not been reported; thus, this study investigated the neuroanatomical distribution of CaBP-9k and the regulation of CaBP-9k expression on steroid hormones in the immature rat brain. To confirm the influence of steroid hormones on CaBP-9k expression, immatu...

Introduction: Trabecular bone score (TBS) was introduced in FRAX, to evaluate more precisely the risk for fracture. However, FRAX is a method for editing a risk, not for making a diagnosis. WHO established conventionally, based on the level of standard deviation (SD), named T score, for Bone Mineral Density (BMD) that <−2,5 SD is compatible with the diagnosis of osteoporosis.Aim: Our aim was to analyze if it is possible to used T score (SD) for...

Bone metabolism disorders in hemodialysed patients (HD) involve several humoral factors, of which PTH plays the central role. Leptin is a protein hormon secreted by the adipocytes and related to malnutrition, anemia and bone metabolism disorders in chronic kidney disease patients. The aim of the study was to was to evaluate serum leptin levels and bone metabolism in chronic HD patients depending on body mass index (BMI). This cross section study included 93 HD patients distrib...

Introduction: Primary hyperparathyroidism (PHPT) is a frequent endocrinopathy caused mostly by parathyroid adenoma. Classic manifestations, less prevalent nowadays, may have a misleading aspect. Here we describe the case of a patient presenting nephrolithiasis, multiple brown tumors revealing PHPT.Observation: A 37-years-old female was diagnosed with nephrolithiasis treated by shockwave lithotripsy without success. CT scan showed coralliform lithiasis in...

Introduction: Impetigo herpetiformis is a rare dermatological disorder, mimicking generalized pustular psoriasis. It is characterized by a generalized erythema-pustular eruption accompanied by fever. Its etiopathogenesis is poorly coded but triggers have been identified such as hypocalcemia in more than half of cases and pregnancy. We report a case of severe hypocalcemia secondary to hypoparathyroidism revealed by impetigo herpetiformis.Case report: Fort...

Aim: The aim of this prospective study is to assess if there is any correlation between parathyroid hyperplasia detected by ultrasound and variables connected with secondary hyperparathyroidism (SHPT) in patients with chronic kidney disease (CKD) stage 5, treated by dialysis and to determine the PTH level, above which the hyperplasia of parathyroid glands could be visualized.Methods: Thirty-one patients (14 men and 17 women) with CKD stage 5, treated by ...

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome of abnormal phosphate metabolism caused by a small mesenchymal tumor that secrete fibroblast growth factor 23 (FGF23). A 29-year-old female has suffered from two low-traumatic hip fractures, multiple fractures at the pelvic and sacrum, and diffuse bone pain for more than 3 years. Her mobility was limited in the last year (used crutches) because she had severe muscle weakness. Laboratory examination at the time ...

Background: Often parathyroid indicentalomas (PI) in the form macroscopically enlarged single or multiple parathyroid glands are encountered during surgical thyroidectomy. The reported incidence in literature is variable (0.4–4.5%), but we feel its underreported compared to its frequency, as only less than 500 cases were reported thus far. Another enigma about PI is their clinical significance and natural history. In this context, we analysed our own experience and tried ...

Introduction: Intrathyroidal parathyroid adenomas (IPA) are a rare cause of primary hyperparathyroidism (PHP) and their differential diagnosis includes other parathyroid and thyroid lesions. Although <7% of parathyroid adenomas are intrathyroidal, this location represents almost 20% of ectopic cases and their preoperative identification can pose difficulties, often being an intraoperative finding.Clinical case: A 70-year-old woman diagnosed with brea...

Objective: To study the effect of parathyroidectomy (PTE) on the BMD in postmenopausal women with primary hyperparathyroidism (PHPT).Materials and methods: We studied 38 postmenopausal women with mild PHPT without osteoporosis (T-score ≥ −2,5 by DXA). In 20 patients was performed PTE, the comparison group:18 postmenopausal patients with PHPT. The duration of observation was 1 year. Examination: total calcium, Ca++, phosphorus, PTH,...

Introduction: Primary hyperparathyroidism (PHPT) is a well-known risk factor for urolithiasis and nephrocalcinosis, wich are now less commonly reported due to an early detection of hypercalcemia by routine measurement of serum calcium. PHPT is most commonly caused by a single adenoma of the parathyroid gland. The incidence of multiglandular disease (MGD) range from 2.4–34%. In case of large tumor differential diagnosis is necessary to rule out malignancy.<p class="abs...

Although primary hyperparathyroidism (PHPT) is seen in young women at 8/million ratio, it is more rare to be seen with pregnancy. If diagnosed and not treated during pregnancy, the mother may have nephrolithiasis, hypercalcemic crisis, hypertension, preeclampsia, pancreatitis, death and intrauterine growth retardation in the fetus, low birth weight, preterm delivery, intrauterine death or postpartum tetany. Forty-year-old woman at the 14th week of gestation was diagnosed with ...

Introduction: Bariatric surgery has important metabolic complications such as bone mass loss.Goal: To assess bone mineral density (BMD) after Roux-en-Y gastric by-pass (RYGB) in patients under standard calcium and vitamin D supplementation.Method: In patients with morbid obesity submitted to RYGB, we measured BMD with a dual X-ray densitometer. Using World Health Organization (WHO) criteria’s, values were compared with young c...

MELAS syndrome is a progressive neurodegenerative disorder characterized by a combination of mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes and endocrine disorders. The frequency of hypoparathyroidism in MELAS syndrome is less than 0.5%. A 22-year-old female was admitted to our center due to episodes of seizures. At admission her height was 147.5 cm, weight 30.5 kg, BMI 13.8 kg/m2. She reported whole life weight and growth retardation, hearin...

Objective: Tumor-induced osteomalacia is a rare paraneoplastic syndrome in which fibroblast growth factor 23 (FGF-23) hyperproduction by tumor causes renal phosphate wasting, severe hypophosphatemia and osteomalacia. Localization of the tumor can be a major diagnostic challenge.Material and methods: We present a clinical case concerning a 62-year old woman previously diagnosed with hypophosphatemic osteomalacia, with a slight improvement of clinical and ...

Objective: Pregnancy-related osteoporosis is a rare disorder with potentially severe complications. There is lack of clinical practice guidelines due to low incidence of this disease and few published cases.Material and methods: We present eight cases of pregnancy-related osteoporosis in women aged between 28–42 years. Six of them were diagnosed between 1 month and 3 years postpartum and two were diagnosed in the third trimester of pregnancy. Most o...

Aim of the study: To investigate osteoporosis features in elder patients in Moscow population.Materials and Methods: It was a retrospective study, during which we analyzed the data of 192 outpatients (183 women and 9 men) admitted to Gerontology Research and Clinical Centre in 2018. In the focus of our attention was patients’ past medical history, such as any antiosteoporotic treatment received, vitamin D and Ca supplementations, any fractures in pr...

Brown tumors represent a late-stage bone change caused by primary hyperparathyroidism, presenting in only 2–3 percent of the cases. Therefore as primary manifestations there is even a smaller percent. The common sites of brown tumor are the long bones, ribs, clavicle or pelvic girdle. The solitary palate brown tumor as initial presentation of a primary hyperparathyroidism is rare and often accompanied by tumors of other facial bones. We present the case of a 67 year old w...

Purpose: The purpose of this study was to evaluate the prevalence and characteristics of individuals with spine–femur bone mineral density (BMD) discordance and to examine whether trabecular bone score (TBS) is associated with major and minor BMD discordance in postmenopausal women.Methods: This retrospective study included 533 healthy postmenopausal women (median age, 60 years; range, 55–82 years) who visited our hospital for a health check-up...

Introduction: In the last decades, primary hyperparathyroidism (PHPT) has changed in its clinical presentation, being mostly asymptomatic in western countries; in Romania is still common to see various clinical presentations.Objective: To characterize a retrospective cohort of PHPT Romanian patients.Patients and methods: 271 patients were included: 88% women, ratio F/M 7.5/1, mean age 60.6±12 yrs (15–83), mean BMI 26.3&#1...

Introduction: Primary hyperparathyroidism is a common disease. It is generally caused by a solitary parathyroid adenoma. Adenomas weighing more than 3.5 g are classified as giant. These giant parathyroid adenomas constitute a rare clinical entity.Case report: A 54-year-old woman was referred to our ENT department for management of newly diagnosed hypercalcaemia. She had no significant medical history. She reported mild constipation, muscular weakness, na...

Background: PHPT is the leading cause of hypercalcemia in outpatients. Its clinical presentation varies from asymptomatic forms to renal or bone complications. The only curative treatment is surgical resection, and delayed diagnosis can lead to serious morbidity.Objective: Identify the presence of PHPT at least one year prior to referral to endocrinology consultation. Secondly, determine whether diagnostic delay leads to increased complications.<p cl...

Background: The National Health Insurance Service of South Korea is considered to be one of the most effective systems in the world with high accessibility to health care for all Koreans including foreign residents in the country as many as 50 M people. The accumulative information on the behaviors and the statistics of healthcare use based on the National Health Insurance Sharing Service Database has become important for medical research as a nationwide surveillance.<p cl...

Bariatric surgery is a common treatment for morbidly obese patients requiring weight loss and/or metabolic control. Vitamin D (VitD) deficiency and bone loss may occur post-operatively and supplementation with high oral doses of Vitamin D is required. Alternatively, intramuscular depot ergocalciferol (vitamin D2) which slowly releases VitD and overcomes the gastrointestinal tract, could be administrated in such patients.Aim: To present a case of severe V...

We hereby report a rare case of hypercalcemia-associated with dysgerminoma with elevation of 1,25(OH)2 Vitamin D. A 27-year-old nulliparous woman presented with hypercalcemia during examination of a right ovarian tumour. As the serum calcium level increased gradually, she started complaining of nausea and anorexia. The laboratory data at first-visit showed that serum calcium, LDH, ALP, 1,25(OH)2 Vitamin D and fractional excretion of calcium were elevated and intact PTH was sup...

Introduction: Patients suffering from acromegaly, despite normal or even higher bone mineral density (BMD), have prevalent vertebral fractures (VFs). Impaired bone microarchitecture is involved fragility fracture development, but vitamin D status could be involved in this impairment.Aim of the study: Comparison of bone parameters such as BMD, trabecular bone score (TBS) and 3D-SHAPER parameters in acromegaly patients according to level of 25(OH)D3.<p...

Introduction: Manifestations of primary hyperparathyroidism (PHPT) such as osteoporosis and stone diseases are common primary diagnostic findings beyond a hypercalcemia. Classical skeletal involvement can be the first sign of PHPT, but not recognized because osteitis fibrosa cystica (bone cysts, brown tumors of the long bones) is rarely seen today in Western Europe.Case report: A 34-year old women from Afghanistan was presented to our out-patient-clinic ...

Background: Primary hyperparathyroidism is one of the most common disorders encountered in endocrine clinics and primarily affects women. The current recommendation for patients with primary hyperparathyroidism is to undergo parathyroidectomy which has a 97% success rate. However, there is a small group of patients where surgery is contraindicated, or patients who have a disease pattern not amenable to surgery or patients who refuse surgery. These patients would require an alt...

Introduction: Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by target-organ resistance to the action of PTH, manifesting with hypocalcemia, hyperphosphatemia, and increased serum concentrations of PTH. PTH receptor couples with the stimulatory G protein (Gsα), leading to cAMP formation. Most cases of PHP are caused by heterozygous inactivating mutations in the GNAS gene, encoding Gs〈 (PHP type 1A) or methylatio...

Hypothesis: The clinical presentation of primary hyperparathyroidism (PHPT) changed lately but we don’t know if more patients in our population have asymptomatic form of PHPT.Materials and methods: Medical records of 449 patients with PHPT who were operated in three Medical Centers (Saint-Petersburg, Russia) between Jan 2011– Jun 2018 were screened. We analyzed anthropometric data, laboratory tests (PTH, 25(OH)D, Ca, iCa, P, 24-h calciuria, ALP...

Objective: To systematically review and meta-analyze the best available evidence regarding the effect of vitamin D supplementation, either as monotherapy or in combination with protein and exercise, on sarcopenia indices (muscle strength, muscle mass, muscle performance).Materials and methods: A comprehensive search was conducted in Medline, Cochrane Central, and Scopus databases, up to December 31st, 2018. Data were expressed as standardized ...

Aim: The aim of the study was to estimate the main factors influence on static and dynamic balance function in osteoporotic patient with vertebral fractures (VF).Methods: 90 patients aged 43-80 with primary osteoporosis were enrolled. Study group comprised of 56 women and 4 men (age 65.4±7.1 years, BMI 26.7±4.4 kg/m2) with at least 1 VF confirmed by X-rays. Control group included 28 women and 2 men (age 62.0±5.2 years, BMI 28.7&...

Background and aims: According to modern researchers, in patients with type 1 diabetes (T1D), the presence of diabetic osteopathy and an increasing fracture risk is evident. However, the determination of bone mineral density only is not enough to adequately assess the quality of the bone. Thus, the aim of the study was to study of the lumbar spine trabecular bone score as qualitative bone characteristic in T1DM men.Materials and methods: 52 males with T1...

Background: This study examined the associations between body mass index (BMI) and falls in Korean adults using data from a large population-based survey.Methods: We analyzed 113,353 men and women (aged ≥50 years) who participated in Korean Community Health Survey in 2013. The BMI groups were classified as underweight (<18.5), normal weight (18.5≤ BMI< 24.9), overweight (25≤ BMI< 29.9), and obese (≥30). Logistic regres...

Background: DiGeorge syndrome (DGS) is the rare genetic disorder caused by a 22q11.2 chromosome microdeletion. The main clinical features are associated with defective development of the pharyngeal pouch system and usually include congenital heart disease, hypoplasia of thymus resulting in immune deficiency and hypoparathyroidism. Also DGS patient has characteristic long face with narrow palpebral fissures, broad nasal bridge, micrognathia and small mouth, small dysmorphic ear...

Background: FHH is a genetically heterogeneous condition mimicking primary hyperparathyroidism at the difference of low urine calcium excretion. FHH types 1, 2, and 3 are due to loss-of-function mutations of the CASR, GNA11, or AP2S1 genes, respectively. FFH 3, the rarest of the 3, is usually associated to 3 recurrent mutations affecting the arginine residue in position 15. The clinical phenotype has not been well described. We report a new case striking by the neurological in...

During the Chernobyl nuclear power plant accident (ChNPPA) a mixture of radioactive isotopes, mainly the iodine and cesium, were released, which through inhalation and food, and in some cases along with external exposure had affected the hormone-producing cells of endocrine system. Within days and months after the accident, the thyroid and parathyroids accumulated a significant amount of these isotopes with thyroid gland becoming a secondary emitter, which further increased th...

Blackground: Parathyroid carcinoma is a malignant neoplasm affecting 0.5 to 5.0% of all patients suffering from primary hyperparathyroidism. This cancer continues to cause challenges for diagnosis and treatment because of its rarity, overlapping features with benign parathyroid disease.Case report: 50 years-old-woman, without relevant previous history. She begins to present asthenia, weakness of lower limbs, arthralgias, cramps and appearance of a painfu...

Heterozygote mutations of the gene CDC73 are responsible for 3 types of parathyroid diseases: familial hyperparathyroidism, parathyroid carcinoma, hyperparathyroidism-jaw tumor syndrome (and uterine or kidney lesions). The goal of our study was to describe the phenotype associated with the deletion of the 3rd exon of CDC73 found in a large family.Patients: We have medical records for 25 patients of a large family composed of 44 individu...

Introduction: Pseudohypoparathyroidism (PHP) is a rare genetic disease characterized by renal resistance to parathyroid hormone (PTH), presenting with hypocalcemia, hyperphosphatemia and elevated PTH levels. We describe a PHP patient who presented with clinically significant hypercalcemia.Case description: A 46-year-old woman with a prior history of hypocalcemia presented to the emergency department with new-onset hypercalcemia, renal failure and anemia....

A female patient presented at the age of 30 years with an incidental radiological finding of hyperostosis after a traumatic knee ligament injury. Her large facial contours with wide hands and fingers reminded acromegalic features but without typical soft tissue changes. Hormone evaluation discovered an elevated IGF-1, growth hormone (GH) was non-suppressed on glucose load, but pituitary MRI was normal. The imaging revealed remarkable cortical thickening of long bones with prom...

Trabecular bone score (TBS) evaluates bone microarchitecture by measuring the grey-level variations from lumbar spine dual-energy X-ray absorbtiometry (DXA) images. Bone mineral density (BMD) in various endocrinopathies might not be sufficient in assessing bone fragility, especially in patients with acromegaly (ACM) but also in thyrotoxicosis. The aim of our study was to evaluate bone quality and quantity by BMD and TBS in patients with acromegaly and thyrotoxicosis.<p cla...

Introduction: Several studies suggest an association between primary hyperparathyroidism (HPTP) and vitamin D deficiency. Our goal is to study the clinical and biological consequences of vitamin D deficiency in patients with primary hyperparathyroidism, and to determine the impact of Vitamin D deficiency on bone, kidney and heart functions.Materials and methods: It is a retrospective study of 17 cases with HPTP associated with a vitamin D deficiency. We ...

Introduction: Primary hyperparathyroidism (PHP) has been postulated to be a cause of primary hyperaldosteronism (PHA). In fact, PTH receptors have been detected in aldosteronoma tissue. Hyperaldosteronism can also induce elevation of PTH levels, as increased circulating volume increases calciuria, with secondary elevation of PTH levels as serum calcium levels rise. We studied the prevalence of PHP in a group of patients diagnosed with PHA either following or simultaneously wit...

Context: It is mandatory to rule out secondary causes of osteoporosis in young adult males presenting with osteoporotic fractures. If no such causes are identified, it is important to remember that an underlying genetic defect might explain the phenotype. This has implications for treatment, follow-up, as well as screening of family members.Case: A 40-year old male (172 cm, 78 kg) with a past medical history of asthma and pollen allergies, initially pres...

Introduction: Serum calcium (Ca) is a major regulator of PTH secretion, but serum magnesium (Mg)also can modulate PTH secretion. Intracellular Mg depletion impairs the ability of the parathyroid to secrete PTH,which subsequently cause fall in the serum Ca concentration.Case report: A 67 year old male patient was admitted to intensive care unit because of disturbance of consciousness, due to suspected hepatic encephalopathy. In his previous history, he ha...

Objective: Postoperative hypocalcemia is one of the major concerns following total thyroidectomy as well as the most frequent cause of prolonged hospital stay. The first purpose of this study was to evaluate the relationship between body composition parameters and symptomatic hypocalcemia following total thyroidectomy. In addition, the effects of disease- and patient-related factors on hypocalcemia were investigated.Methods: In this cohort study, a total...

Pseudohypoparathyroidism type 1 A (PHP-1A) is a rare genetic disorder characterized by hypocalcemia, hyperphosfatemia, multi hormones resistance (PTH, TSH, Calcitonin, GH) associated with Albright hereditary osteodystrophy (AHO) features. The disease is caused by GNAS haploinsufficiency due to inherited inactivating mutation of GNAS-gene that codes for the stimulatory alfa subunit of G protein. A positive genotype-phenotype correlation was recently hypothesized. The purpose of...

Background: Approximately 25% of patients with parathyroid carcinoma (PC) have metastases; the most frequent sites include cervical lymph nodes (30%) and lungs (40%). Less common are liver, bones and brain. Surgical resection of local or distant metastases (if possible) provides the best control of hypercalcemia and enhances long-term survival.Case description: A 70-year old patient was admitted to hospital with a primary hyperparathyroidism (PH). He did...

Introduction: Primary hyperparathyroidism (PHP) is the result of excessive, independent, and inappropriate production of parathyroid hormone (PTH). The aim of this work is to study the epidemiological, clinico-biological and therapeutic aspects of PHP.Materials and methods: This is a retrospective study of 34 patients hospitalized for the management of PHP in the Endocrinology Department of the Military Hospital of Tunis between March 1999 and July 2018....

Backround: Pseudohypoparathyroidism (PHP) type 1A is a rare disorder characterized by end-organ resistance to the action of parathyroid hormone (PTH), resistance to other hormones that activate Gs-coupled receptors, such as TSH and gonadotropins and phenotypic features of Albright hereditary osteodystrophy (AHO), including short stature, obesity, round face, brachydactyly and subcutaneous ossifications. PHP type 1A is caused by heterozygous loss-of-function mutations in the ge...

Context: Mutations of cytochrome P450 24 subfamily A member 1 (CYP24A1) gene are associated with Idiopathic Infantile Hypercalcemia (IIH), a disease recently related to vitamin D catabolism impairment.Aim of the study: Report of clinical and biochemical features of a large family with a novel mutation of CYP24A1.Methods: We performed dosage of total calcium, ionized calcium, 24 h urinary calcium, PTH, 25-OH-Vitamin D (25-O...

Introduction: Osteogenesis imperfecta also known as Lobstein’s disease (LD) is a rare disorder of type 1 collagen characterized by an increased susceptibility to bone fractures. Its coexistencewith primary hyperparathyroidism (PHP) was rarely described. Herein we report a new case of a primary hyperparathyroidismin a patient with a history of Lobstein’s disease.Observation: A 35-year-old woman was referred to our departmentfor hypercalcemia. He...