Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism and spinal cord compression. (1/9)
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. (2/9)
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. (3/9)
(+info)Familial growth hormone releasing factor deficiency in pseudopseudohypoparathyroidism. (4/9)
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. (5/9)
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. (6/9)
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. (7/9)
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. (8/9)
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)Pseudopseudohypoparathyroidism (PPHP) is a rare genetic disorder that is characterized by resistance to the action of parathyroid hormone (PTH), but without the associated biochemical abnormalities seen in pseudohypoparathyroidism (PHP). PPHP is caused by mutations in the gene responsible for the production of the alpha subunit of the Gs protein, which is involved in the transmission of signals from the PTH receptor to the interior of the cell.
Individuals with PPHP typically have normal or elevated levels of serum calcium and phosphorus, and normal PTH levels, despite the resistance to PTH. The disorder is often characterized by a constellation of physical features known as Albright's hereditary osteodystrophy (AHO), which may include short stature, round face, brachydactyly (shortened fingers and toes), and ectopic calcifications. However, unlike PHP, individuals with PPHP do not have cognitive impairment or other endocrine abnormalities.
PPHP is inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the disorder if one parent is affected. The disorder was named "pseudopseudohypoparathyroidism" because it was initially misdiagnosed as pseudohypoparathyroidism, which is a similar but distinct disorder with different biochemical and clinical features.
Fibrous Dysplasia, Polyostotic is a rare genetic disorder that affects the bone tissue. It is characterized by the replacement of normal bone tissue with fibrous (scar-like) tissue, leading to weak and fragile bones that are prone to fractures and deformities. The term "polyostotic" refers to the involvement of multiple bones in the body.
In this condition, there is an abnormal development of the bone during fetal growth or early childhood due to a mutation in the GNAS gene. This results in the formation of fibrous tissue instead of normal bone tissue, leading to the characteristic features of Fibrous Dysplasia, Polyostotic.
The symptoms of this condition can vary widely depending on the severity and location of the affected bones. Common symptoms include:
* Bone pain and tenderness
* Bone deformities (such as bowing of the legs)
* Increased risk of fractures
* Skin pigmentation changes (cafe-au-lait spots)
* Hearing loss or other hearing problems (if the skull is affected)
Fibrous Dysplasia, Polyostotic can also be associated with endocrine disorders such as precocious puberty and hyperthyroidism. Treatment typically involves a combination of medications to manage pain and prevent fractures, as well as surgical intervention to correct bone deformities or stabilize fractures.
PPHP2
- Pseudopseudohypoparathyroidism (PPHP) is an inherited disorder, named for its similarity to pseudohypoparathyroidism in presentation. (wikipedia.org)
- Human STK25 is a candidate gene responsible for pseudopseudohypoparathyroidism (PPHP), a disease that shares features with the Albright hereditary osteodystrophy (AHO) phenotype. (umbc.edu)
Pseudohypoparathyroidism type3
- The term Pseudopseudohypoparathyroidism is used to describe a condition where the individual has the phenotypic appearance of Pseudohypoparathyroidism type 1a, but has (unexpected for the phenotype) normal labs including calcium and PTH. (wikipedia.org)
- The GNAS1 gene involved in both Pseudohypoparathyroidism type 1a and Pseudopseudohypoparathyroidism is greatly affected by imprinting. (wikipedia.org)
- Mutations in GNAS gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. (prosci-inc.com)
Calcium5
- citation needed] Pseudopseudohypoparathyroidism and pseudohypoparathyroidism both involve the same GNAS gene, but Pseudopseudohypoparathyroidism has normal calcium homeostasis because of the normal maternal allele in the kidney. (wikipedia.org)
- Since the maternally-derived GNAS1 gene is functional, renal handling of calcium and phosphate is normal, and homeostasis is maintained in Pseudopseudohypoparathyroidism. (wikipedia.org)
- The recursively named entity of pseudopseudohypoparathyroidism pertains to patients who have the typical appearance of somebody who has type 1a pseudohypoparathyroidism but who have normal parathyroid hormone biochemistry and therefore have normal blood calcium and phosphate levels. (histocutup.co.uk)
- The cause of pseudopseudohypoparathyroidism may actually be the same G protein defect as in pseudohypoparathyroidism but for some reason the problems with calcium and phosphate metabolism do not occur (this may reflect the phenomenon of imprinting whereby different genes, or parts of genes, are methylated differently depending on whether the gene was inherited from the mother or the father). (histocutup.co.uk)
- Pseudopseudohypoparathyroidism is so called because it seems like pseudohypoparathyroidism in that both are disorders resulting in symptoms such as inadequate skeletal growth and shortness, but pseudohypoparathyroidism is caused by resistance to calcium and phosphorus, while pseudopseudohypoparathyroidism is not. (bananagrammer.com)
Word1
- However, the word "pseudopseudohypoparathyroidism" requires more P tiles than we have. (bananagrammer.com)
Resistance1
- Pseudopseudohypoparathyroidism can be best understood by comparing it to other conditions: Hormone resistance is not present in Pseudopseudohypoparathyroidism. (wikipedia.org)
Problems1
- Because of your thyroid problems, look up pseudopseudohypoparathyroidism. (dwmommy.com)
Pseudohypoparathyroidism type 1a3
- The term Pseudopseudohypoparathyroidism is used to describe a condition where the individual has the phenotypic appearance of Pseudohypoparathyroidism type 1a, but has (unexpected for the phenotype) normal labs including calcium and PTH. (wikipedia.org)
- The GNAS1 gene involved in both Pseudohypoparathyroidism type 1a and Pseudopseudohypoparathyroidism is greatly affected by imprinting. (wikipedia.org)
- Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. (nih.gov)
Paternal1
- Any of his daughters that have Pseudopseudohypoparathyroidism may in turn pass along Pseudohypoparathyroidism 1A to her children as the imprinting pattern on the inherited paternal gene will be changed to the maternal pattern in the mother's ovum during meiosis. (wikipedia.org)