1/20. Corrected QT interval (QTc) prolongation and syncope associated with pseudohypoparathyroidism and hypocalcemia.An adolescent presented with exercise-associated syncope and electrocardiographic corrected QT interval (QTc) prolongation. pseudohypoparathyroidism-induced hypocalcemia was diagnosed. The QTc (485 to 505 milliseconds) shortened during normalization of calcium levels, and syncope has not reoccurred.- - - - - - - - - - ranking = 1keywords = pseudohypoparathyroidism (Clic here for more details about this article) |
2/20. Gonadotropin-dependent sexual precocity in a boy affected by pseudohypoparathyroidism.pseudohypoparathyroidism (PHP) is characterized by hypocalcemia and hyperphosphatemia due to PTH resistance. PHP type Ia is due to diminished G(s)alpha activity in several tissues, causing resistance to hormones whose action is mediated by cAMP. Only two cases of males with PTH type Ia who paradoxically showed sexual precocity have been described in the literature. We describe an 11.5 year-old boy affected by PHP without AHO but with associated true precocious puberty, who came to the I.C.U. for tetanic seizures and drowsiness due to severe hypocalcemia. hyperphosphatemia, increased PTH levels and normal 25-OH-vitamin d values were present. Skeletal X-ray showed mild osteopenia. brain MRI revealed symmetric calcifications in basal ganglia and in frontal areas. Thyroid and thyreotropinic function were normal. testosterone levels were in the adult range, as well as basal and stimulated gonadotropin levels. Tanner stage P4, G4; testicular volume 12-15 mi. Molecular cytogenetics studies are now underway to further elucidate the etiology of this form of PHP.- - - - - - - - - - ranking = 1keywords = pseudohypoparathyroidism (Clic here for more details about this article) |
3/20. Transient pseudohypoparathyroidism and neonatal seizure.The case of a neonate is presented who had late onset seizure associated with hypocalcemia, hyperphosphatemia, and raised parathyroid hormone. The infant did not have any stigmata of pseudohypoparathyroidism. The hypocalcemia was initially resistant to calcium therapy, but responded to vitamin d analog therapy. The diagnosis of 'transient neonatal pseudohypoparathyroidism' was entertained, as the infant remained stable and seizure-free with normal serum biochemistry during 8 months of follow-up.- - - - - - - - - - ranking = 1.5keywords = pseudohypoparathyroidism (Clic here for more details about this article) |
4/20. Chronic hypocalcaemia due to selective skeletal resistance to parathyroid hormone.A 71-year-old man was referred for evaluation of asymptomatic hypocalcaemia dating back at least 20 years. There were no somatic abnormalities and Chvostek and Trousseau signs were negative. serum total calcium varied from 1.88 to 2.03 mmol/l, albumin 37-44 g/l, phosphate 0.54-1.12 mmol/l and ionized calcium 1-1.13 mmol/l. serum intact PTH levels were 69 and 55 ng/l (10-65), 25-OHD was 40 nmol/l (2.25-107.5) and 1,25-(OH)2D was 54.6 nmol/l (39-156). serum and urine magnesium and creatinine clearance were normal. Twenty-four-hour urine calcium was 2.15 mmol and calcium/creatinine ratio 0.07. TM phosphate (maximal rate of tubular reabsorption of phosphate in mmol/l glomerular filtrate (GF)) was 0.84 mmol/l GF (0.80-1.34). Bone formation and resorption markers were normal. Bone mineral densities measured by dual-energy X-ray absorptiometry (DEXA) were within normal limits at the hip, forearm and lumbar spine. Infusion of 200 units of synthetic 1-34 PTH was associated with a rise in urinary cyclic amp from 43 mmol/l GF to 344 mmol/l GF and TM phosphate fell from 0.93 to 0.76 mmol/l GF; 1-34 PTH infusions of 300 units twice daily for 5 days were associated with an increase in serum 1,25-(OH)2D from 80.6 to 114.4 pmol/l but no increase in serum calcium. This is a most unusual case of chronic hypocalcaemia similar to that reported by Frame et al. resulting from isolated skeletal resistance to PTH that is not related to renal insufficiency, osteomalacia or a magnesium-deficient state. These two cases appear to represent a new variant of pseudohypoparathyroidism ?type III.- - - - - - - - - - ranking = 0.25keywords = pseudohypoparathyroidism (Clic here for more details about this article) |
5/20. Abnormal pentagastrin response in a patient with pseudohypoparathyroidism.The case of a 25 year old female patient with pseudohypoparathyroidism type I (PHP) and hypercalcitoninaemia is reported. She was referred to our clinic because of recurrent hypocalcaemia associated with paraesthesias and muscle cramps. She had no signs of Albright hereditary osteodystrophy (AHO), a normal mental status and no family history of hypocalcaemia or any other endocrine disease. Considering the laboratory results with hypocalcaemia, hyperphosphataemia, normal vitamin d and normal creatinine with an extraordinary elevated PTH we diagnosed pseudohypoparathyroidism type I. She had delayed pubertal development with menarche in the age of 20 and hypothyroidism with an atrophic thyroid since she was 22 years old. calcitonin (CT) was increased and the performed pentagastrin test showed an excessive CT-response with a peak of 725 pg/ml after 2 min. Up to now there are only three reports of patients with PHP and hypercalcitoninaemia. An abnormal pentagastrin response is known to be a specific marker for medullary thyroid carcinoma, but there were no signs of any malignant disease, even after one year of follow-up. The most reasonable cause for the pathological pentagastrin response might be chronic hypocalcaemia. When interpreting a pathological pentagastrin test in a patient with PHP the specifity of the test might be diminished and a careful observational strategy might be appropriate.- - - - - - - - - - ranking = 1.5keywords = pseudohypoparathyroidism (Clic here for more details about this article) |
6/20. Psedohypoparathyroidism in newborn - a rare presentation.A 7-day-old male baby was referred with history of persistent multifocal convulsions from second day of life. He was found to have hypocalcemia, hyperphosphatemia, normal serum magnesium and normal renal function tests. serum parathormone was found to be elevated. Baby was diagnosed as case of pseudohypoparathyroidism and was treated with calcium supplementation and calcitriol. At 9 months he was asymptomatic on treatment, with normal serum calcium and phosphorus.- - - - - - - - - - ranking = 0.25keywords = pseudohypoparathyroidism (Clic here for more details about this article) |
7/20. Molecular diagnosis of pseudohypoparathyroidism type Ib in a family with presumed paroxysmal dyskinesia.We describe 2 sisters diagnosed initially with paroxysmal kinesigenic choreoathetosis, a condition characterized by brief episodes of spasms precipitated by sudden movement. However, subsequent testing showed hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone levels consistent with pseudohypoparathyroidism type Ib. This diagnosis was confirmed by genetic testing, which identified a 3-kilobase deletion on chromosome 20q13.3. Our report describes the neurologic presentation, metabolic derangement, and underlying genetic mutation in a family. It also reinforces the importance of metabolic testing in the evaluation of pediatric patients with movement disorders.- - - - - - - - - - ranking = 1.25keywords = pseudohypoparathyroidism (Clic here for more details about this article) |
8/20. Multiple intracranial calcifications and spinal compressions: rare complications of type la pseudohypoparathyroidism.Type la pseudohypoparathyroidism (PHP la) is an unusual inherited disease. PHP la often causes extraskeletal calcifications and even soft tissue ossifications. patients may present neurologic symptoms and signs related to hypocalcemia and hyperphosphatemia. We report here a 38-yr-old woman with PHP la who had two uncommon neurologic complications. One was involuntary movements related to basal ganglia calcification, and the other was myelopathy owing to ossifications of the posterior longitudinal ligament and multiple herniated intervertebral disks. Aggressive body weight control and corrections of hypocalcemia, hyperphosphatemia, and elevated PTH may be important to prevent these unusual neurologic complications. Regular and careful neurologic examinations should be performed for early diagnosis and treatments of these spinal lesions.- - - - - - - - - - ranking = 1.25keywords = pseudohypoparathyroidism (Clic here for more details about this article) |
9/20. subcutaneous fat necrosis associated with severe hypocalcaemia in a neonate.subcutaneous fat necrosis (SFN) of the newborn is an uncommon disorder of the adipose tissue, mostly affecting full-term or post-term newborns who experience perinatal distress. The lesions of SFN typically occur during the first six weeks of life; they are usually self-limited and no specific therapy is required. The disorder may be rarely complicated with hypercalcaemia. We present the case of a neonate with perinatal asphyxia who manifested SFN followed by hypocalcaemia instead of hypercalcaemia and a biochemical profile of pseudohypoparathyroidism four weeks after the eruption of skin lesions. The infant was treated with alfacalcidiol. blood biochemistry was normalized within one week and serum parathyroid hormone levels declined to normal over the next two months. It is suggested that perinatal asphyxia was the common etiopathogenetic factor for the development of both SFN and pseudohypoparathyroidism.- - - - - - - - - - ranking = 0.5keywords = pseudohypoparathyroidism (Clic here for more details about this article) |
10/20. Neonatal pseudohypoparathyroidism.The case of a neonate is presented who had early onset seizure associated with hypocalcemia, hyperphosphatemia, and raised parathyroid hormone. The infant did not have any stigmata of pseudohypoparathyroidism. The hypocalcemia was initially resistant to calcium therapy, but responded to vitamin d analog therapy. The diagnosis of 'neonatal pseudohypoparathyroidism' was entertained; the infant remained stable and seizure-free with normal serum biochemistry during 3 months of follow-up.- - - - - - - - - - ranking = 1.5keywords = pseudohypoparathyroidism (Clic here for more details about this article) |
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