Cases reported "Hyperparathyroidism"

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1/65. maintenance of serum calcium by parathyroid hormone-related peptide during lactation in a hypoparathyroid patient.

    We describe the changes in calcium homeostasis seen in a hypoparathyroid woman during the third trimester and with lactation following her second pregnancy. During lactation her need for supplemental calcium and calcitriol abated, and in fact she was transiently hypercalcemic and hypophosphatemic. This change was associated with a rise of serum parathyroid hormone-related peptide (PTHrP) released systemically during lactation. This is the first documentation of the time course of serum PTHrP levels from the late third trimester throughout lactation in a hypoparathyroid woman. In this context PTHrP may have sufficient biological activity to compensate for parathyroid hormone deficiency.
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ranking = 1
keywords = hypophosphatemic
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2/65. Familial isolated hyperparathyroidism caused by single adenoma: a distinct entity different from multiple endocrine neoplasia.

    Familial hyperparathyroidism (FHPT) is a hereditary disease where hyperparathyroidism (HPT) is transmitted in an autosomal dominant fashion. FHPT consists of a variety of diseases such as multiple endocrine neoplasia type1 (MEN 1) and type2 (MEN 2), familial isolated hyperparathyroidism (FIHPT) with single adenoma and with multiple adenomas (or hyperplasia), and FHPT with jaw-tumor (FHPT-JT). Isolation of the genes responsible for MEN1, and 2, i.e. MEN1 and RET, respectively, makes it possible to examine the relations among disorders constituting FHPT. We studied germ-line mutations in these 2 genes in a family of FHPT with single parathyroid adenoma. The disorder in this family was proved to be an entity different from MEN1 because no germ-line mutations in MEN1 gene were found in the affected members. The loss of heterozygosity (LOH) at MEN1 gene and PYGM were not found in the abnormal parathyroid in this family, supporting the above conclusion. No mutations in exons 10, and 11 of RET proto-oncogene was found in germ-line dna of the affected member of the family, suggesting no relation to MEN2A. Linkage study excluded the possibility of FHPT-JT syndrome. PRAD1 was not overexpressed in the parathyroid tumors in this family. The relation of this disorder to FIHPT with multiple enlarged parathyroid glands remains to be clarified. A search for the gene(s) predisposing to FIHPT is needed.
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ranking = 8.2414318044453E-6
keywords = dominant
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3/65. A novel germline mutation of multiple endocrine neoplasia type 1 (MEN1) gene in a Japanese MEN1 patient and her daughter.

    Familial multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited disorder characterized by tumors of the parathyroid, anterior pituitary and gastro-entero-pancreatic endocrine tissues. The MEN1 gene has recently been cloned and its germline mutations have been considered to play an important role in the tumorigenesis of MEN1. We analyzed a Japanese MEN1 patient and her daughter for germline mutations of the MEN1 gene. The proband (60 y.o.) had primary hyperparathyroidism (PHP) and gastrinoma, and her daughter (30 y.o.) had prolactinoma. Clinical examinations revealed no evidence of PHP in the daughter. We identified a novel heterozygous germline mutation (712 A del) at codon 201 in exon 3 of the MEN1 gene in the proband. Restriction digestion analysis revealed the same mutation pattern in her daughter. These findings suggest that this family has familial MEN1 including a rare case of MEN1 with a single lesion of the pituitary. Genetic examinations are useful as diagnostic tools for any rare or variant case of familial MEN1.
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ranking = 8.2414318044453E-6
keywords = dominant
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4/65. Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis.

    Familial hypoparathyroidism is an unusual and genetically heterogeneous group of disorders that may be isolated or may be associated with congenital or acquired abnormalities in other organs or glands. We have evaluated a family with a novel syndrome of autosomal dominant hypoparathyroidism, short stature, and premature osteoarthritis. A 74-yr-old female (generation I) presented with hypoparathyroidism, a movement disorder secondary to ectopic calcification of the cerebellum and basal ganglia, and a history of knee and hip replacements for osteoarthritis. Two members of generation II and one member of generation III were also documented with hypoparathyroidism, short stature, and premature osteoarthritis evident as early as 11 yr. Because of the known association between autosomal dominant hypoparathyroidism and activating mutations of the calcium-sensing receptor (CaR) gene, further studies were performed. Sequencing of PCR-amplified genomic dna revealed a leucine to valine substitution at position 616 in the first transmembrane domain of the CaR, which cosegregated with the disorder. However, this amino acid sequence change did not affect the total accumulation of inositol phosphates as a function of extracellular calcium concentrations in transfected HEK-293 cells. In conclusion, a sequence alteration in the coding region of the CaR gene was identified, but is not conclusively involved in the etiology of this novel syndrome. The cosegregation of hypoparathyroidism, short stature, and osteoarthritis in this kindred does suggest a genetic abnormality involving a common molecular mechanism in parathyroid, bone, and cartilage.
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ranking = 4.9448590826672E-5
keywords = dominant
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5/65. Tertiary hyperparathyroidism in X-linked hypophosphatemic rickets.

    We report a case of tertiary hyperparathyroidism in an X-linked familial hypophosphatemic rickets (XLH) patient under regular calcitriol and self-adjusted large doses of oral phosphate salt (2.4-3.6 g/day in 4-5 divided doses) according to his serum phosphate level. Tertiary hyperparathyroidism is an unusual complication of XLH patients during treatment. As there is growing evidence that a high phosphate diet may induce hyperplasia of the parathyroid glands, it is important to avoid the stimulation of the parathyroid glands by high doses of phosphate administration in XLH patients. serum calcium, phosphate, alkaline phosphatase, and also parathyroid hormone should be measured regularly in order to facilitate an early diagnosis of secondary hyperparathyroidism during the treatment of XLH patients, since this stage is reversible with calcitriol and reduced doses of phosphate salt.
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ranking = 8.2642011419626
keywords = hypophosphatemic, hypophosphatemic rickets, rickets
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6/65. Multiple endocrine neoplasia (MEN)--an overview and case report--patient with sporadic bilateral pheochromocytoma, hyperparathyroidism and marfanoid habitus.

    The multiple endocrine neoplasia syndromes are divided into two categories: MEN type I and MEN type II. The MEN type II syndrome is further divided into MEN IIa and MEN IIb. The syndromes are characterized by benign and malignant changes in two or more endocrine organs, as well as incidental changes in nervous, muscular and connective tissue. Two main forms can be distinguished: the MEN-I syndrome with hyperplasia of the parathyroid gland, accompanied by islet cell tumor and pituitary adenoma; the MEN-II syndrome with medullary thyroid carcinoma in combination with bilateral pheochromocytoma and hyperplasia of the parathyroid gland (MEN IIa), while type IIb is characterized by the additional appearance of neurocutaneous manifestations without primary hyperparathyroidism. Characteristics shared by these syndromes include the involved cell type, most of the tumors are composed of one or more specific polypeptide- and biogenic amine-producing cell types (APUD--amine precursor uptake and decarboxylation). The second characteristic is the increased incidence in certain families. The hereditary component is autosomal dominant with variable expression but high penetrance. Mechanisms of tumorigenesis differ in these syndromes. While MEN I is caused by an inherited mutation of a tumor suppressor gene, menin, located on the long arm of chromosome 11, MEN II is caused by activation of the RET proto-oncogene. We have reported the case of a young man exhibiting bilateral pheochromocytoma. In addition, the patient showed mild primary hyperparathyroidism and marfanoid habitus, all these stigmata usually being part of the MEN-II syndrome. Although this described patient showed a phenotypic mixture of the MEN-IIa and MEN-IIb syndrome, the genetic analysis for MEN II and von-Hippel-Lindau gene did not reveal any pathologic mutations, the endocrine disorders described here are not related to multiple endocrine neoplasia syndromes.
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ranking = 8.2414318044453E-6
keywords = dominant
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7/65. Familial isolated parathyroid adenoma in a consanguineous family.

    The 23-year-old Caucasian male propositus presented with symptomatic hypercalcemia, hypophosphatemia and normocalciuria for 2 months. His 29-year-old brother had undergone an operation for recurrent parathyroid adenoma at age 26 and 28. No other member of the family was affected. His father and mother were second-degree relatives. Laboratory studies showed primary hyperparathyroidism (pHPT), while the remaining endocrine studies and genetic testing for multiple endocrine neoplasia 1 and 2A were normal. technetium-cardiolite scintigraphy and ultrasound scans revealed a parathyroid mass at the left lower neck. Apart from bilateral hearing loss due to gentamicin treatment as a pre-term child, the patient was in of good health. Signs or symptoms of other endocrinopathies were absent. The patient was referred for parathyroidectomy with subsequent autotransplantation of the remaining glands into his sternocleidomastoid muscle. Histological examination revealed an adenoma with oncocytic differentiation, similar to that seen in his brother. The disease may follow a recessive mode of inheritance or may be due to a dominant germ-cell mutation in one of the parents. The presented case may ultimately help in elucidating the molecular genetic basis of this rare form of pHPT.
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ranking = 8.2414318044453E-6
keywords = dominant
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8/65. Tertiary hyperparathyroidism after high-dose phosphate therapy in adult-onset hypophosphatemic osteomalacia.

    OBJECTIVE: To describe a case of adult-onset hypophosphatemic osteomalacia treated with orally administered phosphate and complicated by tertiary hyperparathyroidism. methods: We present pertinent clinical, radiologic, and laboratory details of the study patient for a period of more than 20 years and discuss the few reported cases of tertiary hyperparathyroidism attributable to prolonged phosphate therapy. RESULTS: A 49-year-old Jordanian man, who had been diagnosed at age 26 years as having sporadic adult-onset hypophosphatemic vitamin d-resistant osteomalacia, presented with severe right hip pain, severe osteopenia with lytic bone lesions, and hypercalcemia after prolonged oral treatment with phosphate and vitamin d. These clinical, radiologic, and biochemical findings, in conjunction with a very high serum parathyroid hormone level, indicated the diagnosis of tertiary hyperparathyroidism, which was substantiated histopathologically. CONCLUSION: physicians should be aware of the potential for development of tertiary hyperparathyroidism in patients receiving prolonged oral phosphate therapy.
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ranking = 6
keywords = hypophosphatemic
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9/65. Somatic mutations of the MEN1 gene and microsatellite instability in a case of tertiary hyperparathyroidism occurring during high phosphate therapy for acquired, hypophosphatemic osteomalacia.

    Somatic mutations of the MEN type 1 (MEN1) gene were recently shown to be responsible for tumorigenesis in 13-26% of sporadic, nonfamilial primary hyperparathyroidism. However, it is unknown whether these mutations are also involved in tumorigenesis of parathyroid glands occurring during high phosphate therapy for hypophosphatemic rickets or osteomalacia. A male patient with adult-onset, hypophosphatemic osteomalacia had been treated with 1alpha-OHD3 and oral phosphate for 13 yr when tertiary hyperparathyroidism developed. After total resection of four enlarged parathyroid glands and autotransplantation of a hyperplastic gland, the patient has continued to do well for the last 2 yr. sequence analysis of the coding exons of MEN1 gene revealed a 36-bp deletion with a 2-bp insertion (exon 2) in the right upper parathyroid gland accompanied with loss of heterozygosity at 11q13 locus and a heterozygous mutation of 2-bp deletion (AG) in exon 10 in the right lower gland, in which microsatellite instability was also found. No MEN1 gene mutation was detected in the other two hyperplastic parathyroid glands or in the peripheral blood. These findings indicate that MEN1 gene mutations contributed to tumorigenesis of the right upper parathyroid gland in this case of phosphate-induced tertiary hyperparathyroidism. Very recently a bone tumor was found in the right femoral neck, and the tumor (chondroblastoma) was resected.
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ranking = 6.6528402283925
keywords = hypophosphatemic, hypophosphatemic rickets, rickets
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10/65. Ectopic cardiac calcification associated with hyperparathyroidism in a boy with hypophosphatemic rickets.

    An adolescent with hypophosphatemic rickets developed cardiac calcifications in the absence of hypercalcemia or elevation of the phosphocalcic product (the product of the total serum calcium and phosphorus concentrations). Cardiac calcifications led to aortic and mitral valve dysfunction, myocardial calcification, and arrhythmia. hyperparathyroidism probably played a significant role in the development of this complication, which emphasizes the necessity for intermittent assessment of parathyroid status in individuals receiving medical therapy for hypophosphatemic rickets.
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ranking = 9.9170413703551
keywords = hypophosphatemic, hypophosphatemic rickets, rickets
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