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1.
Rev. méd. Chile ; 146(1): 116-121, ene. 2018. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-902629

RESUMO

Pseudohypoparathyroidism (PHP) is a group of rare genetic disorders that share organ targeted resistance to the action of parathyroid hormone (PTH) as a common feature. Biochemically, they may present with hypocalcemia, hyperphosphatemia and elevated PTH. Some forms present with a specific phenotype: short stature, round facies, short neck, obesity, brachydactyly and subcutaneous calcifications, called Albrigth's Hereditary Osteodystrophy (AHO). This spectrum of disorders are caused by several alterations in the gene coding for the alpha subunit of the G protein (GNAS): an ubiquitous signaling protein that mediates the action of numerous hormones such as PTH, TSH, gonadotropins, and ACTH, among others. According to their inheritance with maternal or paternal imprinting, they may manifest in a diversity of clinical forms. Although most commonly diagnosed during childhood, PHP may manifest clinically during adolescence or early adulthood. We report two late presenting cases of pseudohypoparathyroidism. A 21-year-old female with biochemical abnormalities characteristic of pseudohypoparathyroidism who was misdiagnosed as epilepsy and a 13-year-old boy with the classic AHO phenotype but without alterations in phospho-calcium metabolism, compatible with pseudopseudohypoparathyrodism.


Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto Jovem , Pseudo-Hipoparatireoidismo/diagnóstico por imagem , Fatores de Tempo , Tomografia Computadorizada por Raios X
2.
Endocrinology and Metabolism ; : 252-259, 2018.
Artigo em Inglês | WPRIM | ID: wpr-715511

RESUMO

BACKGROUND: Autosomal-dominant brachydactyly type E is a congenital abnormality characterized by small hands and feet, which is a consequence of shortened metacarpals and metatarsals. We recently encountered a young gentleman exhibiting shortening of 4th and 5th fingers and toes. Initially, we suspected him having pseudopseudohypoparathyroidism (PPHP) because of normal biochemical parameters, including electrolyte, Ca, P, and parathyroid hormone (PTH) levels; however, his mother and maternal grandmother had the same conditions in their hands and feet. Furthermore, his mother showed normal biochemical parameters. To the best of our knowledge, PPHP is inherited via a mutated paternal allele, owing to the paternal imprinting of GNAS (guanine nucleotide binding protein, alpha stimulating) in the renal proximal tubule. Therefore, we decided to further analyze the genetic background in this family. METHODS: Whole exome sequencing was performed using genomic DNA from the affected mother, son, and the unaffected father as a negative control. RESULTS: We selected the intersection between 45,490 variants from the mother and 45,646 variants from the son and excluded 27,512 overlapping variants identified from the father. By excluding homogenous and compound heterozygous variants and removing all previously reported variants, 147 variants were identified to be shared by the mother and son. Variants that had least proximities among species were excluded and finally 23 variants remained. CONCLUSION: Among them, we identified a defect in parathyroid hormone like hormone (PTHLH), encoding the PTH-related protein, to be disease-causative. Herein, we report a family affected with brachydactyly type E2 caused by a novel PTHLH mutation, which was confused with PPHP with unclassical genetic penetrance.


Assuntos
Humanos , Alelos , Braquidactilia , Proteínas de Transporte , Anormalidades Congênitas , DNA , Exoma , Pai , Dedos , , Patrimônio Genético , Avós , Mãos , Ossos Metacarpais , Ossos do Metatarso , Mães , Hormônio Paratireóideo , Proteína Relacionada ao Hormônio Paratireóideo , Penetrância , Pseudopseudo-Hipoparatireoidismo , Dedos do Pé
3.
Indian Pediatr ; 2012 December; 49(12): 989-991
Artigo em Inglês | IMSEAR | ID: sea-169598

RESUMO

We report a12-year-old child with pseudohypoparathyroidism (PHP) whose mother had pseudopseudohypoparathyroidism. The child had low serum calcium, high phosphorous and high parathormone (PTH) levels. PHP occurs due to a defect in the guanine nucleotide binding protein (G protein). She also had hypothyroidism which is known to utilize the G protein pathway. She developed T 1 diabetes mellitus (T1DM) while under follow-up. This is arguably the first time T1DM has been reported associated with PHP.

4.
Korean Journal of Dermatology ; : 820-824, 2009.
Artigo em Coreano | WPRIM | ID: wpr-129166

RESUMO

A 36 year-old man and his 6 month-old daughter presented with multiple, slightly depressed, skin-colored, hard nodules and plaques on the abdomen, back, and both extremities. They also showed abnormal physical appearance, including short stature and neck, round face, and short digits, which suggested Albright's hereditary osteodystrophy (AHO). Histopathologically, various sized bony spicules were present in the dermis. The laboratory results showed normal serum calcium, phosphorus and parathyroid hormone levels. On the basis of clinical, laboratory and histologic findings, we diagnosed these cases as Albright's hereditary osteodystrophy with cutaneous ossification occurring in pseudopseudohypoparathyroidism.


Assuntos
Abdome , Cálcio , Derme , Extremidades , Displasia Fibrosa Poliostótica , Pescoço , Núcleo Familiar , Hormônio Paratireóideo , Fósforo , Pseudopseudo-Hipoparatireoidismo
5.
Korean Journal of Dermatology ; : 820-824, 2009.
Artigo em Coreano | WPRIM | ID: wpr-129151

RESUMO

A 36 year-old man and his 6 month-old daughter presented with multiple, slightly depressed, skin-colored, hard nodules and plaques on the abdomen, back, and both extremities. They also showed abnormal physical appearance, including short stature and neck, round face, and short digits, which suggested Albright's hereditary osteodystrophy (AHO). Histopathologically, various sized bony spicules were present in the dermis. The laboratory results showed normal serum calcium, phosphorus and parathyroid hormone levels. On the basis of clinical, laboratory and histologic findings, we diagnosed these cases as Albright's hereditary osteodystrophy with cutaneous ossification occurring in pseudopseudohypoparathyroidism.


Assuntos
Abdome , Cálcio , Derme , Extremidades , Displasia Fibrosa Poliostótica , Pescoço , Núcleo Familiar , Hormônio Paratireóideo , Fósforo , Pseudopseudo-Hipoparatireoidismo
6.
Annals of Dermatology ; : 154-158, 2009.
Artigo em Inglês | WPRIM | ID: wpr-136561

RESUMO

Primary osteoma cutis is characterized by the formation of normal bone tissue in the dermis or subcutis without any underlying tissue abnormality or pre-existing calcification. This illness is associated with Albright hereditary osteodystrophy (AHO), which is characterized by such physical features as a short stature, round face, obesity, brachydactyly and osteoma cutis. Pseudohypoparathyroidism (PHP) is an inherited metabolic disorder that's characterized by resistance to parathyroid hormone, and PHP is present in most AHO patients. An AHO phenotype without hormonal resistance is called pseudopseudohypoparathyroidism (PPHP). Osteoma cutis is less common in patients with PPHP than in patients with PHP. We present here a case of osteoma cutis as the cardinal manifestation of AHO associated with PPHP. Osteoma cutis is an important sign of AHO and its significance should not be overlooked, even if the patient has normal values on the serum biochemical tests.


Assuntos
Humanos , Alcenos , Osso e Ossos , Doenças Ósseas Metabólicas , Braquidactilia , Derme , Displasia Fibrosa Poliostótica , Obesidade , Ossificação Heterotópica , Osteoma , Hormônio Paratireóideo , Fenótipo , Pseudo-Hipoparatireoidismo , Pseudopseudo-Hipoparatireoidismo , Valores de Referência , Dermatopatias Genéticas
7.
Annals of Dermatology ; : 154-158, 2009.
Artigo em Inglês | WPRIM | ID: wpr-136560

RESUMO

Primary osteoma cutis is characterized by the formation of normal bone tissue in the dermis or subcutis without any underlying tissue abnormality or pre-existing calcification. This illness is associated with Albright hereditary osteodystrophy (AHO), which is characterized by such physical features as a short stature, round face, obesity, brachydactyly and osteoma cutis. Pseudohypoparathyroidism (PHP) is an inherited metabolic disorder that's characterized by resistance to parathyroid hormone, and PHP is present in most AHO patients. An AHO phenotype without hormonal resistance is called pseudopseudohypoparathyroidism (PPHP). Osteoma cutis is less common in patients with PPHP than in patients with PHP. We present here a case of osteoma cutis as the cardinal manifestation of AHO associated with PPHP. Osteoma cutis is an important sign of AHO and its significance should not be overlooked, even if the patient has normal values on the serum biochemical tests.


Assuntos
Humanos , Alcenos , Osso e Ossos , Doenças Ósseas Metabólicas , Braquidactilia , Derme , Displasia Fibrosa Poliostótica , Obesidade , Ossificação Heterotópica , Osteoma , Hormônio Paratireóideo , Fenótipo , Pseudo-Hipoparatireoidismo , Pseudopseudo-Hipoparatireoidismo , Valores de Referência , Dermatopatias Genéticas
8.
Journal of Korean Society of Endocrinology ; : 433-438, 2004.
Artigo em Coreano | WPRIM | ID: wpr-131904

RESUMO

Pseudohypoparathyroidism (PHP) is a rare endocrine syndrome, which is characterized by Albright's hereditary osteodystrophy (AHO). Pseudopseudohypoparathyroidism (PPHP) presents with AHO features, but does not show clinical symptoms or the same laboratory finding as hypoparathyroidism. A 54 aged woman visited our department with lower abdominal pain. She had a history of a total hysterectomy due to persistent uterine bleeding 30 years previously. She showed abnormal physical findings, including a round face, short stature and brachydactyly. Her hormonal data were within normal limits, as follows: PTH 40.72 pg/mL, calcium 8.6 mg/dL, phosphorus 4.0 mg/dL and 24 hour urine cAMP 3.2 nmol/mg. On a pituitary challenge test, the basal levels and response rates of FSH and LH were low, and a sella CT scan showed partially empty sella. Herein is reported a case of PPHP, with partial empty sella, with a review of the literature


Assuntos
Feminino , Humanos , Dor Abdominal , Braquidactilia , Cálcio , Hipoparatireoidismo , Histerectomia , Fósforo , Pseudo-Hipoparatireoidismo , Pseudopseudo-Hipoparatireoidismo , Tomografia Computadorizada por Raios X , Hemorragia Uterina
9.
Journal of Korean Society of Endocrinology ; : 433-438, 2004.
Artigo em Coreano | WPRIM | ID: wpr-131901

RESUMO

Pseudohypoparathyroidism (PHP) is a rare endocrine syndrome, which is characterized by Albright's hereditary osteodystrophy (AHO). Pseudopseudohypoparathyroidism (PPHP) presents with AHO features, but does not show clinical symptoms or the same laboratory finding as hypoparathyroidism. A 54 aged woman visited our department with lower abdominal pain. She had a history of a total hysterectomy due to persistent uterine bleeding 30 years previously. She showed abnormal physical findings, including a round face, short stature and brachydactyly. Her hormonal data were within normal limits, as follows: PTH 40.72 pg/mL, calcium 8.6 mg/dL, phosphorus 4.0 mg/dL and 24 hour urine cAMP 3.2 nmol/mg. On a pituitary challenge test, the basal levels and response rates of FSH and LH were low, and a sella CT scan showed partially empty sella. Herein is reported a case of PPHP, with partial empty sella, with a review of the literature


Assuntos
Feminino , Humanos , Dor Abdominal , Braquidactilia , Cálcio , Hipoparatireoidismo , Histerectomia , Fósforo , Pseudo-Hipoparatireoidismo , Pseudopseudo-Hipoparatireoidismo , Tomografia Computadorizada por Raios X , Hemorragia Uterina
10.
Journal of the Korean Neurological Association ; : 431-434, 1999.
Artigo em Coreano | WPRIM | ID: wpr-8465

RESUMO

We describe a rare case of pseudopseudohypoparathyroidism (PPHP) with benign intracranial hypertension (BIH). A 16 year-old male presented with headache, vomiting, ocular pain, blurred vision, and diplopia following minor head trauma. He showed developmental delay, short stature and short metacarpals and phalanges, which suggested Albright's hereditary osteodystrophy. Neurologic examination revealed bilateral sixth cranial nerve palsy and bilateral papilledema. Lumbar puncure disclosed an elevated opening CSF pressure with normal biochemical and celluar find-ings. However, the levels of serum calcium, phosphorus and parathyroid hormone were within the normal limits and chromosomal analyses were normal. Brain MRI revealed normal ventricular size and no structural abnormality. We concluded that PPHP seemed to have a key role for the genesis of BIH in this case, although previous mild head trauma might have a precipitating effect.


Assuntos
Adolescente , Humanos , Masculino , Doenças do Nervo Abducente , Encéfalo , Cálcio , Traumatismos Craniocerebrais , Diplopia , Cefaleia , Imageamento por Ressonância Magnética , Ossos Metacarpais , Exame Neurológico , Papiledema , Hormônio Paratireóideo , Fósforo , Pseudopseudo-Hipoparatireoidismo , Pseudotumor Cerebral , Vômito
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