Pseudopseudohypoparathyroidism and spinal cord compression.
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A 42 year old Greek male with pseudo-pseudohypoparathyroidism presented with difficulty in walking and with lower limb weakness. His physical signs included short stature, thick neck, short fourth metacarpals and metatarsals, and a spastic paraparesis. Serum calcium and phosphate and parathyroid concentrations were normal. Myelography demonstrated compression of the cervical and lumbar cord in association with local bony abnormalities. (+info)
Albright's hereditary osteodystrophy with extensive heterotopic ossification of the oral and maxillofacial region: how fetuin research may help a seemingly impossible condition.
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Albright"s hereditary osteodystrophy (AHO) is a complex genetic disorder characterized by brachydactyly, gonadotropin resistance, hypothyroidism, pseudohypoparathyroid syndrome and heterotopic ossification. Heterotopic ossification rarely occurs in the maxillofacial region. In this article, we present such a case, describe the etiology, characteristics and treatment of AHO and suggest a potential role of an inhibitor of bone formation such as fetuin in preventing recurrence of aberrant ossification. (+info)
Albright hereditary osteodystrophy: a rare case report.
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Familial growth hormone releasing factor deficiency in pseudopseudohypoparathyroidism.
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A mother with pseudopseudohypoparathyroidism and her short son showed poor spontaneous growth hormone secretion, and provocation tests suggested a deficiency of growth hormone releasing factor. This is the first report of growth hormone releasing factor deficiency in pseudopseudohypoparathyroidism. The boy has responded well to growth hormone treatment over a period of three years. (+info)
Hemifacial spasm in Albright's hereditary osteodystrophy with pseudopseudohypoparathyroidism and nephrogenic diabetes insipidus--case report.
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A 30-year-old male with Albright's hereditary osteodystrophy, pseudopseudohypoparathyroidism, and nephrogenic diabetes insipidus presented with hemifacial spasm persisting for 2 years. This association is extremely unusual. Angiography revealed markedly tortuous carotid and vertebral arteries inconsistent with his age. Neurovascular decompression of the left vertebral artery achieved only partial resolution of the spasm. (+info)
Parental origin of transcription from the human GNAS1 gene.
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Variation in the phenotypic expression of Albright's hereditary osteodystrophy (AHO) determined by the parent of transmission, suggests that the human Gs alpha gene (GNAS1), in which mutations occur in AHO, may be under imprinted control. GNAS1 is also known to map to a chromosomal region (20q13.11) showing syntenic homology with the imprinted mouse region 2E1-2H3. To establish if GNAS1 is indeed imprinted, we have examined the parental origin of GNAS1 transcription in human fetal tissues. Of 75 fetuses genotyped, at gestational ages ranging from 6 to 13 weeks, 13 heterozygous for a FokI polymorphism in exon 5 of GNAS1 were identified whose mothers were homozygous for one or other allele. RNA from up to 10 different tissues from each fetus was analysed by RT-PCR. In all cases expression from both parental alleles was shown by FokI digestion of RT-PCR products and quantification of the resulting fragments. No tissue specific pattern of expression was discerned in these experiments. If genomic imprinting regulates the expression of the human GNAS1 gene, our data suggest that the effect must either be subtle and quantitative, or be confined to a small subset of specialised hormone responsive cells within the target tissues. (+info)
Evolution of pseudohypoparathyroidism: an informative family study.
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An adult woman with pseudopseudohypoparathyroidism had a child with normal calcium and parathyroid hormone concentrations and cyclic AMP response to injected parathyroid hormone in infancy. By 2.5 years he had features of pseudohypoparathyroidism with raised parathyroid hormone and 'flat' cyclic AMP response. This is the first documented case of a change in parathyroid hormone responsiveness. The abnormal cyclic AMP response to parathyroid hormone in pseudohypoparathyroidism can evolve during childhood. (+info)
Imprinting in Albright's hereditary osteodystrophy.
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Review of published reports of Albright's hereditary osteodystrophy (AHO) involving two or more generations shows a marked excess of maternal transmission. Full expression of the gene (AHO + hormone resistance, pseudohypoparathyroidism) occurs in maternally transmitted cases and partial expression (AHO alone) when the gene is inherited from the father, suggesting the involvement of genomic imprinting in the expression of this disorder. (+info)