Cases reported "Pseudohypoparathyroidism"

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1/21. Serial changes in bone mineral density and bone turnover after correction of secondary hyperparathyroidism in a patient with pseudohypoparathyroidism type Ib.

    Pseudohypoparathyroidism (PHP) is a disorder characterized by hypocalcemia and secondary hyperparathyroidism caused by primarily renal resistance to the effects of parathyroid hormone (PTH). However, as an indication of normal PTH responsiveness in bone, some patients with PHP develop skeletal disease because of longstanding secondary hyperparathyroidism. A patient is described with hypocalcemia, hyperphosphatemia, marked secondary hyperparathyroidism, and an increased alkaline phosphatase level. Subsequent evaluation revealed a diagnosis of PHP type Ib. The patient had radiographic evidence of skeletal disease caused by secondary hyperparathyroidism. A urinary level of N-telopeptide cross-links of type I collagen (NTX) was elevated markedly. Bone mineral density (BMD) was in the normal range at all measured sites, with BMD at the spine being higher than at the femur and distal radius. Treatment was initiated with calcium and calcitriol. Seven months later, calcium and PTH levels had normalized. The level of urinary NTX fell by 83%. Spinal BMD improved by 15%, and BMD at the femoral neck improved by 11%. Radial BMD was unchanged. This case emphasizes the importance of evaluating patients with PHP for hyperparathyroid bone disease and shows that correction of secondary hyperparathyroidism in patients with PHP can result in a significant suppression of previously accelerated bone turnover and to substantial gains in BMD at sites containing a major percentage of cancellous bone. The case also implies that assessment of bone turnover with urinary NTX and measurement of BMD with dual-energy X-ray absorptiometry (DEXA) may be useful in following the response of the skeleton to therapy in these patients and suggests the need for more studies of both NTX and BMD in patients with PHP.
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2/21. Pseudohypoparathyroidism presenting with bony deformities resembling rickets.

    Pseudohypoparathyroidism (PHP), characterized by hypocalcemia, hyperphosphatemia and elevated parathormone level, may rarely be associated with bony deformities resembling rickets. The authors report two siblings with clinical and radiological features suggestive of rickets unresponsive to treatment with vitamin d. Low serum calcium, elevated serum phosphate, normal renal functions, raised tubular maximum of phosphate and high serum parathormone were suggestive of PHP. Treatment with 1-hydroxyvitamin D and calcium carbonate led to decrease in bone pain, increase in height and weight and resolution of radiological features. PHP should be suspected in patients with bony deformities, hypocalcemia, elevated blood phosphate levels and normal renal functions.
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3/21. Fibroblast growth factor-23 is regulated by 1alpha,25-dihydroxyvitamin D.

    serum FGF-23 regulation was studied in patients with hypoparathyroidism or pseudohypoparathyroidism treated with calcitriol. serum FGF-23 levels changed in parallel in response to changes in serum 1,25-D, suggesting that FGF-23 may be regulated by 1,25-D. In addition, the phosphaturic effect of FGF-23 may be diminished in the absence of PTH action on the kidney. INTRODUCTION: Fibroblast growth factor (FGF)-23 is a recently described hormone that has been shown to be involved in the regulation of phosphate and vitamin d metabolism. The physiologic role of FGF-23 in mineral metabolism and how serum FGF-23 levels are regulated have yet to be elucidated. Three patients with mineral metabolism defects that allowed for the investigation of the regulation of FGF-23 were studied. MATERIALS AND methods: Patient 1 had postsurgical hypoparathyroidism and Munchausen's syndrome and consumed a pharmacologic dose of calcitriol. Patient 2 had postsurgical hypoparathyroidism and fibrous dysplasia of bone. She was treated with increasing doses of calcitriol followed by synthetic PTH(1-34). Patient 3 had pseudohypoparathyroidism type 1B and tertiary hyperparathyroidism. She underwent parathyroidectomy, which was followed by the development of hungry bone syndrome and hypocalcemia, requiring treatment with calcitriol. serum FGF-23 and serum and urine levels of mineral metabolites were measured in all three patients. RESULTS: Patient 1 had an acute and marked increase in serum FGF-23 (70 to 670 RU/ml; normal range, 18-108 RU/ml) within 24 h in response to high-dose calcitriol administration. Patient 2 showed stepwise increases in serum FGF-23 from 117 to 824 RU/ml in response to increasing serum levels of 1alpha,25-dihydroxyvitamin D (1,25-D). Finally, before parathyroidectomy, while hypercalcemic, euphosphatemic, with low levels of 1,25-D (10 pg/ml; normal range, 22-67 pg/ml), and with very high serum PTH (863.7 pg/ml; normal range, 6.0-40.0 pg/ml), patient 3 had high serum FGF-23 levels (217 RU/ml). After surgery, while hypocalcemic, euphosphatemic, and with high serum levels of serum 1,25-D (140 pg/ml), FGF-23 levels were higher than preoperative levels (305 RU/ml). It seemed that the phosphaturic effect of FGF-23 was diminished in the absence of PTH or a PTH effect. CONCLUSIONS: serum FGF-23 may be regulated by serum 1,25-D, and its phosphaturic effect may be less in the absence of PTH.
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4/21. osteoma cutis in pseudohypoparathyroidism.

    osteoma cutis is the formation of normal bone in the skin. Primary osteoma cutis occurs de novo, whereas the secondary type develops in association with the underlying inflammatory, tumorous or traumatic conditions. Primary osteoma cutis is also associated with Albright's hereditary osteodystrophy (AHO), which can include hypocalcaemic-type pseudohypoparathyroidism (also known as pseudohypoparathyroidism type Ia) or normocalcaemic-type pseudohypoparathyroidism (also known as pseudopseudohypoparathyroidism). We describe a case of osteoma cutis in a 7-year-old boy who had cutaneous, biochemical and phenotypic features of pseudohypoparathyroidism type Ia and AHO.
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5/21. Intracranial calcification and brachydactyly mimicking Albright's hereditary osteodystrophy in an adult patient with lingual thyroid and prolactinoma-like lesion.

    hyperprolactinemia and prolactinoma in patients with long-term primary hypothyroidism have been recognized for decades. We report a case of 57-year-old female patient with lingual thyroid and cretinism who had a high serum prolactin level (greater than 200 ng/ml) and a pituitary tumor with suprasellar and parasellar extension. The tumor regressed to a size undetectable by CT scan after 2 years of thyroid hormone replacement therapy, but complete normalization of the hyperprolactinemia required additional bromocriptine therapy. This patient showed generalized short metacarpal and phalangeal bones, calcification of the basal ganglia and dentate nuclei bilaterally, and subcutaneous calcification at both gluteal regions, while serum calcium, phosphorus and c-PTH levels were all normal. Thus in addition to short stature, brachydactyly, a round face, and obesity, which are related to hypothyroidism, she also presented features uniquely mimicking the Albright's hereditary osteodystrophy seen in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism. Since she had no family history of pseudohypoparathyroidism and had a normal level of Gs alpha protein on the membrane of the red blood cells, there is no evidence of pseudopseudohypoparathyroidism. The cause of the ectopic calcification remains unknown.
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6/21. Pseudohypoparathyroidism: a difficult diagnosis in early childhood.

    We have studied one adult and three children with pseudohypoparathyroidism and observed that the physical character of short metacarpal bones is not evident in the first 4-5 years of life, that hypocalcaemia and hyperphosphataemia may be absent in the first years of life, but that the renal unresponsiveness to parathyroid hormone can still be demonstrated. Our data confirm earlier observation that in evaluating the renal responsiveness to parathyroid hormone, urinary cyclic amp is a better parameter than urinary phosphorus. Thus in early childhood, it may be difficult to differentiate between a normal child, a child with pseudohypoparathyroidism and a child with pseudo-pseudohypoparathyroidism unless the renal parathyroid hormone responsiveness is studied.
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7/21. malleus head fixation: association with pseudohypoparathyroidism.

    Pseudohypoparathyroidism (PHP) is a heterogenous syndrome resulting from bone and renal resistance to parathyroid hormone (PTH). hypocalcemia and hyperphosphatemia occur despite elevated PTH levels. head and neck manifestations of PHP include tetany, laryngeal spasm, and ectopic calcification in the eye, dentition, subcutaneous tissue and brain. The first case of malleus head fixation caused by ectopic calcification in a PHP patient is reported. Normalization of serum calcium and phosphate levels does not appear to retard or correct this abnormality. Ossiculoplasty or amplification is currently the recommended treatment in PHP patients with malleus head fixation.
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8/21. Two cases of pseudohypoparathyroidism in a family with type E brachydactylia.

    The authors described two sisters with pseudohypoparathyroidism, who had shortening of the metacarpal and metatarsal bones, irregular shortening of the phalanges, resulting in brachydactylia; short stature, moon-like face, in association with manifestation of tetany and metabolic anomalies (hypocalcemia and hyperphosphatemia in one of the patients). Investigation into the genealogy of the patients ascertained their father and grandmother to be of the same constitutional type: small in stature, moon-like face, shortened metacarpal bones (less marked); in the absence of any manifestations of tetany and metabolic anomalies. Evidently, in genealogies with type E brachydactylia of pure form one may expect the occurrence of disorders of the type of pseudohypoparathyroidism. As regards differential diagnosis, consideration should be given in hypoparathyroidism, pseudo-pseudohypoparathyroidism, and other syndromes with brachydactylia.
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9/21. Relationship of estrogen and pregnancy to calcium homeostasis in pseudohypoparathyroidism.

    The relationship of estrogen administration and pregnancy to vitamin d metabolism and Ca homeostasis was examined in two young women with pseudohypoparathyroidism. Estrogen, which is believed to inhibit PTH-mediated bone resorption, caused a consistent dose-related reversible reduction of serum Ca in these patients. This finding supports the concept that PTH-mediated bone resorption may contribute to the maintenance of serum Ca in normocalcemic pseudohypoparathyroidism. Paradoxically, these two patients remained normocalcemic throughout pregnancy, a high estrogen state. They were studied during four pregnancies, and each time a similar pattern emerged. Despite a primary derangement of the renal 1 alpha-hydroxylase, serum 1,25-dihydrovitamin D [1,25-(OH)2D] concentration increased 2- to 3-fold, while the serum PTH level was nearly halved during pregnancy. After delivery, serum Ca and 1,25-(OH)2D decreased, and serum PTH rose appropriately. Placental synthesis of 1,25-(OH)2D may have contributed to the maintenance of normocalcemia in these patients.
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10/21. Skeletal responsiveness in pseudohypoparathyroidism. A spectrum of clinical disease.

    Three cases of pseudohypoparathyroidism with roentgenographic evidence of hyperparathyroid bone disease are described. Renal resistance to exogenous parathyroid hormone (PTH), the hallmark of pseudohypoparathyroidism, was documented by markedly blunted or absent urinary phosphate and cyclic amp responses to parathyroid extract. At the time of diagnosis all patients were hypocalcemic and hyperphosphatemic with elevated serum alkaline phosphatase levels and subperiosteal resorption noted on skeletal films. Bone biopsy in one patient revealed a histologic appearance consistent with hyperparathyroidism. serum PTH levels, measured in two patients while they were hypocalcemic, were elevated. None of the patients had short stature, brachydactyly, subcutaneous calcification or mental deficiency. These cases are compared to the 15 well-documented cases previously reported. The presently available information on pseudohypoparathyroidism indicates a variable skeletal response to PTH mediated by several factors extrinsic to bone and suggests that pseudohypoparathyroidism with hyperparathyroid bone disease is one extreme of a clinical spectrum of skeletal responsiveness to PTH. This disorder is part of an expanding clinical picture which makes pseudohypoparathyroidism a diagnostic consideration in any patient with unexplained hypocalcemia, hyperphosphatemia, elevated alkaline phosphatase levels or metabolic bone disease.
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