Endocrine Abstracts

Introduction: Hajdu Cheney Syndrome (HCS) is a rare genetic autosomal dominant disorder affecting multiple organ systems, characterized by distinctive facial features, acroosteolysis and severe osteoporosis. In a limited number of cases, the disease appears in association with polycystic kidney disease (PKD) or Crohn’s disease (CD). Splenomegaly has also been reported. Heterozygous gain-of-function mutations in NOTCH2 gene have been confirmed to be the cause of H...

Introduction: Familial hypocalciuric hypercalcemia (FHH) causes lifelong hypercalcemia, which, in general, is not associated with significant morbidity. FHH1, the most common type of the disease, is inherited in an autosomal dominant pattern and caused by inactivating mutations in the Calcium Sensing Receptor (CaSR) gene, located in chromosome 3. Inactivation of CaSR in parathyroid cells results in a shift of calcium set point to higher values with consequent...

We report the case of a 35 yrs- old man, who was referred to our Department in 2012, for symptomatic nephrolithiasis and low bone mass. Biochemical evaluation showed moderate hypercalcemia [albumin-corrected calcium 13.1 mg/dl (8.6–10.2) and markedly elevated PTH levels [1391 pg/ml (13–65)] consistent with the diagnosis of primary hyperparathyroidism (PHPT). Neck ultrasound revealed three enlarged parathyroid glands. The patient underwent right superior and inferior ...

Introduction: Chronic hyposphosphataemia is caused by increased concentrations of fibroblast-growth factor 23 (FGF23), mostly attributed to inactivating mutations of the phosphate-regulating endopeptidase homolog, X-linked (PHEX) gene. Secondary or tertiary hyperparathyroidism (THP) constitutes a rare complication of the disease, partly attributed to chronic supplementation of phosphate salts.Case presentation: A 31-year old woman was admitted to our dep...

Introduction: The development of malignancies in patients with Primary Hyperparathyroidism (PHP) occurs in the context of Multiple Endocrine Neoplasia (MEN) Syndrome. The association of PTH levels with cancer in patients with sporadic PHP has not been clarified. The aim of this study was to investigate whether PTH levels are related to the presence of thyroid cancer (TH) or other types of cancer in patients with PHP.Methods: We included patients with bio...

Introduction: Osteoporosis is a major health problem in our countries. Primary hyperparathyroidism and obesity surgery increase this risk of adverse events such as fractures. We report the case of a patient with mild asymptomatic hyperparathyroidism with low serum mild hypercalcemia non-osteoporotic who developed osteoporosis after obesity surgery improved by parathyroidectomy.Case: This is a female 55-year-old patient with past history appendectomy, str...

Introduction: Despite Egypt being a sunny country (latitude 22–32°N) and enjoying a high year-round UV exposure (highest UV index in Cairo 12 in July and lowest 3 in December), it harbors a high prevalence of vitamin D deficiency especially in females (Botros et al, Endocrinol Nutr, 2015;62(7):314–321).Aim of work: We aimed to study a larger representative sample of Egyptian males and females, to identify the extent of the phenomenon and c...

Chronic hypophosphatemia (HP) can be observed among patients (pts) evaluated and treated for osteoporosis, but its prevalence and management are poorly defined. In this study we analyze prevalence, clinical features and diagnostic workup for chronic HP among pts attending a third-level osteoporosis office. Chronic HP was defined as serum phosphate levels persistently < 2.7 mg/dl over a period ≥ 6 months. Tubular reabsorption of phosphate (TRP) was measured and, in pr...

Introduction: McCune-Albright syndrome (MAS) is a rare non-inheritable genetic disease. It is attributed to an early embryonic postzygotic somatic activating mutation of GNAS, leading to a mosaic that causes polyostotic fibrous dysplasia, café au lait macules and polyendocrinopathy.Aim: To present two cases of this rare syndrome.Case report: A 38-year-old male patient presented with a bone lesion of the forehead and acromegali...

Introduction: Familial hypocalciuric hypercalcemia (FHH) is a rare condition (1–2% of causes for hypercalcemia) and may be confused with primary hyperparathyroidism. Diagnosis of FHH must be suspected in patients with a family history of chronic hypercalcemia, no symptoms and low urinary excretion. This disease is due to mutations in the calcium-sensing receptor (CASR) gene. Meningiomas are common intracranial tumors (15–20% of primary neoplasms of the central nervou...

Introduction: Hypercalcemia is one of the most common endocrine disorders. Most out-patients’s cases are due to primary hyperparathyroidism and run with chronic and low-moderate hypercalcemia. We report a case of acute and severe hipercalcemia of unknown origin. Diagnostic procedure is discussed.Case report: A 53-year-old man was admitted to the Intensive Care Unit due to progressive deterioration of consciousness in the last 48 hours, associating r...

Background: Glucocorticoid-induced osteoporosis is common in chronic diseases as inflammatory bowel disease. Although BMD (bone mass density) is used for the estimation of the quantity of the bone, on the contrary, TBS (trabecular bone score) is a new parameter, a gray-level textural assessment of bone microarchitecture, providing estimation of quality of bone. Several studies showed increased level of TBS during teriparatide treatment in glucocorticoid induced osteoporosis.</...

Introduction: Vitamin D is a hormone essential for calcium absorption and bone mineralization, which is positively associated with bone mineral density. The aim of our study was to evaluate the relationship between 25-OH vitamin D values and parameters of bone mineralization (bone mineral density - BMD) and bone quality (trabecular bone score - TBS) in patients from day to day clinical practice.Materials and methods: We evaluated 433 postmenopausal women...

Hip fracture remains the most important clinical manifestation of osteoporosis, with many studies demonstrating a relationship between seasons and the incidence and mortality after hip fracture.Objective: We aimed to identify a seasonal variation (four seasons) in incidence of osteoporotic hip fracture admitted in trauma centers in Bucharest.Materials and methods: We observed the seasonal variation of 1176 patients, mean age 78.19+...

Introduction: Primary hyperparathyroidism (PHPT) is disorder of one or more parathyroid glands, characterized by inadequately increased PTH secretion, almost always followed by hypercalcemia. Calcitonin, secreted by parafollicular C-cells in thyroid gland, is hypocalcemic hormone which partly acts as physiological antagonist of PTH.Aim: To evaluate calcitonin response in calcium infusion test in patients with primary hyperparathyroidism.<p class="abs...

Introduction: Parathyroid hormone (PTH) is a peptide-based hormone that controls the level of ionized calcium in blood and extracellular fluids. Hemostasis is regulated by the balance between natural stimulants and inhibitors on platelet functions. Disruption of the balance between inhibitor and stimulants leads to thrombosis or bleeding. There are studies on the association of hyperparathyroidism with thrombotic disease. Thromboelastography is a method of evaluating the whole...

Introduction: Primary hyperparathyroidism comprises one of the major causes of hypercalcaemia and is mostly due to solitary parathyroid adenoma. Denosumab is a novel antiresorptive agent for osteoporosis treatment and has been associated with a compensatory increase in PTH levels during the first months after injection, a fact that may interfere in the diagnostic procedures when dealing with concomitant small parathyroid adenomas without standard scintigraphic pattern.<p c...

Objective(s): Last data showed advantages of TBS assessment of bone quality over BMD in patients with type 2 diabetes (T2D). We perform DXA in patients with T2D and calculated 10-year probability of fracture using FRAX® tool.Material and methods: A total of 252 (172 females) T2D patients aged 36 to 86 y.o (mean 61.0±8.8) were examined. BMD was performed in 124 patients (110 females) using DXA (Lunar Prodigy, USA). BMD adjusted for TB...

Introduction: Common causes of generalised seizures are epilepsy, meningitis, head injury and hypoglycaemia. But this is an unusual presentation of generalised seizures secondary to hypocalcaemia due to prolonged use of PPI’s. PPI’s are amongst the most commonly prescribed drugs due to their effective medicinal profile. They are generally well tolerated, however, are now increasingly reported to be associated with adverse effects. There has been some discrepancy abou...

Purpose: In this study, we aimed at determining the dynamic thiol/disulfide homeostasis and oxidant balance, and investigating the relation of these parameters to the severity of the disease and the serum calcium levels.Material and method: 55 patients with iatrogenic hypoparathyroidism follow-ups, and 40 healthy volunteers were included in the study. The blood dynamic thiol/sulfide balance, Total Antioxidant Status (TAS), Total Oxidant Status (TOS), Par...

Abstract: The most commonly used techniques to measure vitamin D are automated immunoassays, which are known to be affected by interferences, especially from immunoglobulins present in the patient’s serum. We present a case of a patient with IgA myeloma in whom interference with the vitamin D assay was identified. An 76-year-old male, known to have: ischemic heart disease, atrial fibrillation, COPD, type 2 Diabetes Mellitus and hypertension was referred to the Endocrinolo...

Abstract: Brown tumors also known as osteitis fibrosa are a very rare complications of primary hyperparathyroism that occur in less than 2% of patients suffering from any form of hyperparathyroidism. Parathormone increases osteoclastic activity in the bones causing cystic bony changes, it’s a reparative cellular process. Common sites of brown tumor are the ribs, clavicle, long bones and pelvic girdle. Our case is 55 years old tunisian men who was admitted to orthopedic de...

Abstract: A 32-year-old lady presented to us at 6 months of gestation with parathyroid hormone (PTH) -dependent hypercalcemia mediated pancreatitis and endogenous insulin dependent hypoglycemia, owing to parathyroid adenoma and possibly insulinoma, respectively. The parathyroid adenoma was localized on the MRI of the neck; however, no imaging for the insulinoma could be done due to the gravid state. Due to the simultaneous occurrence of tumors in two endocrine glands, namely, ...

Introduction: Hyperparathyroidism-Jaw Tumor (HPT-JT) syndrome is a rare genetic disorder bearing a germline and a somatic CDC73 mutation. The features of HPT-JT are clinically difficult to ascertain because the parathyroid disease, ossifying fibroma in the jaw and other abnormalities, often occurs asynchronously and may be diagnosed and treated separately. The association of jaw ossifying fibroma with primary hyperparathyroidism (PHPT) is typical of HPT-JT.<p class="abstex...

Introduction: Melnick Needles Syndrome corresponds to a rare skeletal dysplasia of genetic etiology, with dominant inheritance pattern attached to the X chromosome. Mutations related to the gene of filamina A, which is responsible for the synthesis of collagen, are responsible for the clinical and phenotypic manifestations of the disease, with predominantly female involvement. Rickets are caused by inadequate mineralization of the bone, which precedes the closure of the epiphy...

Background: X-linked hypophosphatemia (XLH) is a rachitic disorder characterized by renal tubular phosphate wasting resulting from increased circulating activity of the fibroblast growth factor FGF23. Secondary and tertiary hyperparathyroidism have been reported in XLH patients in small retrospective studies, however this complication has never been systematically evaluated in a large cohort.Aim of the study: To compare parathyroid function of adult XLH ...

Introduction: Hypocalcaemia is a rare and potentially reversible cause of cardiomyopathy. Restoration to normal serum calcium levels usually leads to rapid improvement of cardiac function.Case report: A 42-year-old woman with a history of total thyroidectomy, due to large nodular goiter in 2016, and acute pos-operative hypoparathyroidism, assumed to be transient, with no supplementation since early 2017. In September 2018 she was admitted due to acute ca...

Abstract: The incidence of multiglandular parathyroid disease (MGD) varies in the range 7–33%. Negative preoperative imaging is a strong predictor of MGD in patients with primary hyperparathyroidism (PHPT). We retrospectively evaluated a cohort of 13 patients with PHPT and inconclusive MIBI scintigraphy and/or neck ultrasound (mean age 64 years, total calcium 2.74 mmol/l and parathyroid hormone (PTH) 114 ng/l). All subjects subsequently underwent additional imaging with f...

Abstract: Parathyroid gland adenoma is benign, PTH-secreting tumour, which leads to primary hyperparathyroidism. Congenital hyperparathyroidism may occur without any other symptoms, on it’s own, but often is part of MEN1 or MEN2 syndromes. PTH activates osteoclasts, that resorbs calcium from bone and brings calcium to blood serum. Also PTH also induces calcium reabsorption from kidney tubules band and blocks excretion of phosphates. Long time PTH secreting adenoma shows n...

Objective: In chronic hypoparathyroidism, conventional therapy consists of oral calcium supplements and active vitamin D analogs but some patients cannot achieve treatment goals despite the high dose of oral calcium supplementation. Therefore, parathyroid gland transplantation and recombinant human PTH have been investigating as new therapeutic options. Calcium absorption from intestinal cells occurs by transcellular path and paracellular path. Transcellular absorption occurs ...

Introduction: Dilated cardiomyopathy (DCMP) is a serious and rare complication of unrecognized chronic hypocalcemia, whose etiologies are dominated by hypoparathyroidism. The peculiarity of this DCMP is due to the fact that it is reversible to different degrees after the correction of hypocalcemia. Its incidence is rare because of the early management of any hypocalcemia. The objective of our work is to highlight the interest of screening and treatment of postoperative hypopar...

Introduction: Primary hyperparathyroidism (PHPT) is a common endocrine disorder often diagnosed in asymptomatic individuals on routine biochemical screening, which, if left untreated, can have devastating consequences. The main target organs of PTH are the skeletal system and the kidneys. Asymptomatic hypercalcaemia in young adults is uncommon, and patients who remain asymptomatic should be monitored for the development of complications that justify surgery.<p class="abste...

Introduction: Subcutaneous calcinosis are deposits of hydroxyapatite crystals in the skin. They are hard masses, poorly organized, located most often in the dermis or hypodermis. They are secondary to either local tissue alterations or the penetration of calcium salts into the skin, or to an abnormal phosphocalcic metabolism but which remains an exceptional complication in case of primary hyperparathyroidism. We report the case of a patient admitted to the endocrinology depart...

Background: Persistent Hypoparathyroidism (PH) is a condition characterized by inappropriately low concentrations of PTH that lead to hypocalcemia. The treatment cornerstones of PH are calcium and calcitriol supplementation; however, several patients do not achieve adequate control of the disease under this conventional therapy. Notably, no biomarker of risk of ‘resistance’ has yet been identified. Based on the fact that obesity alters the vitamin D-calcium homeostas...

Introduction: Tertiary hyperparathyroidism can be developed in cases of persistent or non-curable secondary hyperparathyroidism or in any other case of long-standing hypocalcemia that leads to the autonomous function of at least one parathyroid gland. We present a case of a man with tertiary hyperparathyroidism and excessive maxilla swelling and extensive bone lesions.Presentation: A 32 years old man, with chronic renal failure on dialysis for twelve yea...

Introduction: Adjuvant therapy with aromatase-inhibitors (AIs) increases bone loss and fracture risk. Concomitant antiresorptive treatment is currently recommended. The aim of this study was to evaluate the effects of AIs on bone metabolism and mineral density at 12 and 24 months.Methods: Among 400 women on AIs who attended our Endocrinology Unit from 2014 to 2016, we retrospectively evaluated those who initially refused antiresorptive and took cholecalc...

Aim: Although nonsecretory parathyroid carcinoma is relatively more frequent, nonsecretory parathyroid adenoma was also reported. It is thought to precede functioning parathyroid adenoma.Case report: An iso-hypoechoic 6.5×9.5×16.1 mm thyroid nodule with irregular borders in the superior-posterior part of right thyroid lobe was observed in ultrasonography in a 44-year-old female euthyroid patient. Fine-needle aspiration (FNAB) biopsy resulted wi...

Objective: Trabecular bone score (TBS) is associated with an increased risk of prevalent and incident fractures. It has a role of fracture assessment in secondary osteoporosis related to diabetes, acromegaly and hyperparathyroidism and in glucocorticoid-induced osteoporosis. However, it is understudied as a marker of bone health in heart transplanted patients. The aim of our pilot study was to evaluate the effects of zoledronic acid (ZA) on bone health including TBS in this po...

Introduction: Trials on children and adolescents with excess weight are limited and lack parathyroid hormone (PTH) measures as a surrogate marker of vitaminD status in skeletal health. The present study addresses this key knowledge gap with the use of a dose-response randomized clinical trial (RCT) aimed at determining vitamin D requirement to increase 25(OH)D and suppress PTH concentrations in overweight and obese school children.Methods: The current st...

Background and aim: The 25OHD concentration at which intact parathyroid hormone (iPTH) is maximally suppressed and below which PTH begins to rise (inflection point) has been used to define optimum 25OHD concentration. While it is not known if the lower 25OHD levels in obese children are associated with a PTH increase in the same manner as it is in normal weight children, we aimed to study the relation between circulating PTH and 25OHD levels and to search for a 25OHD threshold...

Introduction: Fahr’s syndrome and primary hypoparathyroidism are two rare diseases. Fahr’s syndrome is characterized by abnormal calcified deposits in basal ganglia and cerebral cortex and by the classic association with hypoparathyroidism. We report two cases of Fahr syndrome revealing an unknown primary hypoparathyroidism.Observation 1: A 36 year-old man, with a history of schizophrenia and generalized tonic-clonic seizures since two years. H...

In patients with type 2 diabetes mellitus (T2DM), the question of the magnitude of loss of BMD and the risk of fracture is discussed.Objective: To study the relationship between the BMD deficiency in patients with type 2 diabetes with the risk of fracture of the distal radius.Materials and methods: A comparative study of the loss of BMD in patients with fracture of the radial bone with type 2 diabetes mellitus and without diabetes ...

Objetive: Obesity is associated with lower serum vitamin D (25(OH)D3) levels through several mechanisms. The aim of the study was to determine the prevalence of vitamin D deficiency and to examine the association between insulin resistance and 25(OH)D3 levels in a cohort of obese subjects.Materials and methods: 85 obese subjects were enrolled into the study from october to december 2018. Demographic, anthropometric and clinical para...

Secondary hyperparathyroidism (SHPT) as well as vitamin D deficiency are highly prevalent in patients with chronic kidney disease (CKD). Traditional therapy of SHPT includes administration of calcitriol, mainly in dialysis patients. Data about effects of native vitamin D repletion in such patients are still inconsistent. The aim was to assess effects of vitamin D repletion in CKD patients with SHPT and vitamin D deficiency. 88 patients, mean age 50.8±14.6 years with CKD 3...

Gitelman’s syndrome, rare (lifetime prevalence 1:5000) autosomal recessive tubulopathy, is caused by SLC12A3 gene mutation (encoding part of sodium-chloride channel and magnesium channel). Typical finding is low level of potassium and magnesium due to increased output, secondary hyperaldosteronism and hypocalciuria. In this case, we present 28 years old woman with 1 year nonspecific conditions similar to hyperventilation tetanic cramps: muscle fatigue, cluster headache, n...

Introduction: Primary hyperparathyroidism is due to excessive and inappropriate production of parathyroid hormone. The treatment is essentially surgical. The objective of this work is to specify the clinical and paraclinical characteristics of this pathology and specify the methods of management.Methods: A descriptive retrospective study conducted at the Department of Endocrinology Diabetology and Metabolic Diseases of the University Hospital of Casablan...

Introduction: Primary hyperparathyroidism and vitamin D deficiency are two common conditions. Their coexistence also seems frequent and could aggravate clinical and biological manifestations of primary hyperparathyroidism. The aim of this work is to analyze the clinical and paraclinical parameters of this disease according to vitamin D status.Methods: Retrospective study conducted at the Department of Endocrinology Diabetology and Metabolic Diseases of t...

Introduction: Multiple adverse health outcomes are reported in response to low vitamin D and/or hyperparathyroidism.Aim and methods: A cross-sectional study in a random sample of mainly non-vitamin D supplemented Danish women (N=1580) during winter-time. We investigated prevalence of vitamin D insufficiency, hyperparathyroidism, general health and quality of life (QoL) as assessed by a general health questionnaire and a validated hyperparathyroi...

Context: ß-CTX are considered useful markers of response to denosumab and other anti-resorbtive treatments for osteoporosis. We report an unusual case of a completely absent effect of both denosumab and bisphosphonates on bone resorption markers.Case description: In 2017 a 74-year-old woman sought medical attention at the Endocrinology Unit of Policlinico di Sant’Orsola for the evaluation of an adrenal adenoma associated with osteoporosis. Meno...

Introduction: Immobilization induced hypercalcemia, which was first described in 1941 by Albright, is an uncommon reason for hypercalcemia. It is associated with increased bone remodeling disorders and conditions associated with limited movement such as medullar lesions or vascular events. The exact mechanism of the disorder is unknown. Diagnosis requires an detailed evaluation to rule out other causes of hypercalcemia.Case presentation: A 24 year old ma...

Background: Denosumab is a monoclonal antibody against RANK ligand used for the treatment of osteoporosis. Although clinical trials demonstrate that denosumab is highly effective at reducing fragility fractures in postmenopausal osteoporosis, there have been few studies looking at real world outcomes. Our primary aim was to assess the efficacy of denosumab in practice.Methods: We retrospectively formed a database of 257 patients seen in endocrinology out...

Background: Denosumab, given 6 monthly as a subcutaneous injection, is well established as a treatment for osteoporosis. In the UK it is initiated in secondary care with most patients continuing with injections in primary care. Given concerns with hypocalcaemia and possible adverse effects on fracture risk due to abrupt cessation, robust monitoring in primary care is important. Our study compares two groups of patients on denosumab, one following a well-defined treatment pathw...

Introduction: Fahr’s syndrome (SF) is a rare anatomo-clinical entity, defined by non-arteriosclerotic striato-pallido-serrated calcifications localized in basal ganglia. It may be idiopathic or secondary to many etiologies dominated by phosphocalcic metabolic abnormalities, the main cause being primary or postoperative hypoparathyroidism.Materials: This is a retrospective, descriptive study involving 11 patients with FAHR syndrome hospitalized at th...

Veganism is spreading in western societies, as a new ‘healthy’ and ecological diet. But in children, it can lead to malnutrition, with damaging consequences in a still-developing organism. We report the case of a thirteen-month-old boy born at term with appropriate measurements and no medical history. He was kept at home by his mother, and his father was a senior executive. He was brought to the Hospital because of hypotonia and loss of walking ability. He didn’...

Cushing disease and hypophosphatasia are rare conditions that may be both responsible of an important impairment of bone metabolism with increased fracture risk. We reported for the first time a case of a 43-year-old woman that came at our attention for recent onset of alopecia and amenorrhea. At the anamnesis, she denied any past relevant events and no drug assumption. At the physical examination, she presented rubeosis and facies lunaris and central adipose distribution (wai...

Introduction: Lactation-related osteoporosis is a very rare entity, usually diagnosed with one or more fractures, during the early postpartum period. Due to the rarity of this condition, no consensus still exists with regard to thetype and optimal duration of treatment.Case presentation: A 39-year old Caucasian female was presented at the outpatient clinic in December 2016 for evaluation and management of severely low bone mineral density (BMD) and multi...

Introduction: Primary hyperparathyroidism associated with multiple myeloma has been rarely reported to coincide, but relapse of previously remitted primary hyperparathyroidism concurrent with a plasma cell proliferative disorder has not been described.Case report: A 76-year-old female was referred to the endocrine clinic for evaluation of primary hyperparathyroidism discovered incidentally during hospitalization for angina. She had a corrected calcium of...

Microdeletions or microduplications in the 22q11.2 region cause a variety of disorders, including DiGeorge syndrome (DGS; MIM 188400), velocardiofacial syndrome (VCFS; MIM 192430) and cat-eye syndrome (CES; MIM 115470). DGS and VCFS clinically overlap and are both caused by three million-base pair (Mb) deletions on the chromosome region 22q11.2, flanked by low copy number repeats (LCRs) labeled ‘A-D’. The most common deletion, present in 85% of individuals, extends f...

Background: Magnesium oxide is widely used for constipation and antacid. Some studies showed another antacid, proton pump inhibitor increased the risk of fracture. The association between laxative and the risk of fracture was limited. Our study aimed to evaluate the association between: usage of Magnesium oxide and fracture.Design: Nationwide population-based retrospective cohort study.Setting: Taiwan’s National Health Insuran...