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[PMID]: 28453643 [Au] Autor: Grüters-Kieslich A; Reyes M; Sharma A; Demirci C; DeClue TJ; Lankes E; Tiosano D; Schnabel D; Jüppner H [Ad] Endereço: Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114. [Ti] Título: Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes. [So] Source: J Clin Endocrinol Metab;102(8):2670-2677, 2017 Aug 01. [Is] ISSN: 1945-7197 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: Context: Early-onset obesity, characteristic for disorders affecting the leptin-melanocortin pathway, is also observed in pseudohypoparathyroidism type 1A (PHP1A), a disorder caused by maternal GNAS mutations that disrupt expression or function of the stimulatory G protein α-subunit (Gsα). Mutations and/or epigenetic abnormalities at the same genetic locus are also the cause of pseudohypoparathyroidism type 1B (PHP1B). However, although equivalent biochemical and radiographic findings can be encountered in these related disorders caused by GNAS abnormalities, they are considered distinct clinical entities. Objectives: To further emphasize the overlapping features between both disorders, we report the cases of several children, initially brought to medical attention because of unexplained early-onset obesity, in whom PHP1B or PHP1A was eventually diagnosed. Patients and Methods: Search for GNAS methylation changes or mutations in cohorts of patients with early-onset obesity. Results: Severe obesity had been noted in five infants, with a later diagnosis of PHP1B due to STX16 deletions and/or abnormal GNAS methylation. These findings prompted analysis of 24 unselected obese patients, leading to the discovery of inherited STX16 deletions in 2 individuals. Similarly, impressive early weight gains were noted in five patients, who initially lacked additional Albright hereditary osteodystrophy features but in whom PHP1A due to GNAS mutations involving exons encoding Gsα was diagnosed. Conclusions: Obesity during the first year of life can be the first clinical evidence for PHP1B, expanding the spectrum of phenotypic overlap between PHP1A and PHP1B. Importantly, GNAS methylation abnormalities escape detection by targeted or genome-wide sequencing strategies, raising the question of whether epigenetic GNAS analyses should be considered for unexplained obesity. [Mh] Termos MeSH primário: Cromograninas/genética Subunidades alfa Gs de Proteínas de Ligação ao GTP/genética Obesidade Pediátrica/genética Pseudo-Hipoparatireoidismo/genética Sintaxina 16/genética [Mh] Termos MeSH secundário: Adolescente Criança Pré-Escolar Estudos de Coortes Metilação de DNA Epigênese Genética Feminino Seres Humanos Lactente Masculino Reação em Cadeia da Polimerase Multiplex Mutação [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (Chromogranins); 0 (STX16 protein, human); 0 (Syntaxin 16); EC 3.6.1.- (GNAS protein, human); EC 3.6.5.1 (GTP-Binding Protein alpha Subunits, Gs) [Em] Mês de entrada: 1709 [Cu] Atualização por classe: 180308 [Lr] Data última revisão: 180308 [Sb] Subgrupo de revista: AIM; IM [Da] Data de entrada para processamento: 170429 [St] Status: MEDLINE [do] DOI: 10.1210/jc.2017-00395

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[PMID]: 28591527 [Au] Autor: Carroll RW; Katz ML; Paul E; Jüppner H [Ad] Endereço: From the Department of Pediatrics, Massachusetts General Hospital (R.W.C., M.L.K., E.P., H.J.), the Department of Pediatrics, Harvard Medical School (R.W.C., M.L.K., E.P., H.J.), and Joslin Diabetes Center (M.L.K.) - all in Boston. [Ti] Título: Case 17-2017. A 14-Year-Old Boy with Acute Fear of Choking while Swallowing. [So] Source: N Engl J Med;376(23):2266-2275, 2017 06 08. [Is] ISSN: 1533-4406 [Cp] País de publicação: United States [La] Idioma: eng [Mh] Termos MeSH primário: Obstrução das Vias Respiratórias/psicologia Deglutição Medo Hipocalcemia/diagnóstico Pseudo-Hipoparatireoidismo/diagnóstico [Mh] Termos MeSH secundário: Adolescente Cálcio/uso terapêutico Metilação de DNA Diagnóstico Diferencial Seres Humanos Hipocalcemia/tratamento farmacológico Hipocalcemia/etiologia Masculino Fósforo/sangue Pseudo-Hipoparatireoidismo/complicações Pseudo-Hipoparatireoidismo/genética Pseudo-Hipoparatireoidismo/psicologia Tireotropina/sangue Vitamina D/uso terapêutico Vitaminas/uso terapêutico [Pt] Tipo de publicação: CASE REPORTS; CLINICAL CONFERENCE; JOURNAL ARTICLE [Nm] Nome de substância: 0 (Vitamins); 1406-16-2 (Vitamin D); 27YLU75U4W (Phosphorus); 9002-71-5 (Thyrotropin); SY7Q814VUP (Calcium) [Em] Mês de entrada: 1706 [Cu] Atualização por classe: 170627 [Lr] Data última revisão: 170627 [Sb] Subgrupo de revista: AIM; IM [Da] Data de entrada para processamento: 170608 [St] Status: MEDLINE [do] DOI: 10.1056/NEJMcpc1616019

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[PMID]: 28483283 [Au] Autor: Wémeau F; Wémeau JL [Ad] Endereço: Centre hospitalier de Calais, 765, domaine de la Vigne, 59910 Bondues, France. [Ti] Título: [The mouth of patients with hypo- and pseudohypoparathyroidism]. [Ti] Título: La bouche des hypoparathyroïdies et pseudohypoparathyroïdies.. [So] Source: Presse Med;46(9):838-844, 2017 Sep. [Is] ISSN: 2213-0276 [Cp] País de publicação: France [La] Idioma: fre [Ab] Resumo: Chronic calcipenia related to hypo- and pseudohypoparathyroidism favors trophic complications, especially expressed on the buccal cavity. Correlated with early onset of the disease and imperfect correction of the metabolic disorders, retardation to appearance and implantation of teeth are observed. The buccal signs often are the most immediately visible expression of the disease. They are painful and disabling. Other acute expressions reflect the neuromuscular hyperexcitability related to tetany. Finally, some etiologies determine specific damage, as in Di George's, HDR syndromes or in Albright's osteodystrophia. [Mh] Termos MeSH primário: Hipoparatireoidismo/diagnóstico Doenças da Boca/diagnóstico Pseudo-Hipoparatireoidismo/diagnóstico Odontopatias/diagnóstico [Mh] Termos MeSH secundário: Diagnóstico Diferencial Seres Humanos Hipocalcemia/complicações Hipocalcemia/diagnóstico Hipoparatireoidismo/complicações Pseudo-Hipoparatireoidismo/complicações Estatística como Assunto Tetania/diagnóstico [Pt] Tipo de publicação: JOURNAL ARTICLE; REVIEW [Em] Mês de entrada: 1710 [Cu] Atualização por classe: 171013 [Lr] Data última revisão: 171013 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170510 [St] Status: MEDLINE

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[PMID]: 28329522 [Au] Autor: Caravaglio JV; Gupta R; Weinstein D [Ti] Título: Multiple miliary osteoma cutis of the face associated with Albright hereditary osteodystrophy in the setting of acne vulgaris: a case report. [So] Source: Dermatol Online J;23(3), 2017 Mar 15. [Is] ISSN: 1087-2108 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: Osteoma cutis is a condition characterized by theformation of bone within the skin. Such aberrantossification of the skin and subcutaneous tissue isconsidered primary when it arises in the absence ofunderlying tissue damage or a preceding cutaneouslesion. Conversely, secondary osteoma cutis occurswhen skin ossification is the result of a pre-existingskin lesion, trauma, or inflammatory process [1,2].Although rare, primary osteoma cutis has beenassociated with a number of different geneticdisorders. Albright hereditary osteodystrophy (AHO),a condition first described in 1942 by Fuller Albright,is an autosomal dominant metabolic disorder causedby a mutation in the GNAS1 gene [3]. This disease isassociated with a variety of phenotypic traits includingcutaneous ossification, short stature, brachydactyly,obesity, and mental retardation. It should be notedthat brachydactyly is the most specific feature of AHO[4]. However, owing to variable expressivity individualsmay present only with a subset of these symptoms [5,6]. The cutaneous ossification observed in patientswith AHO may be seen in infancy or early childhoodand is sometimes the earliest presenting symptom.Nonetheless, because clinical features of AHO canbe seen in the absence of metabolic derangements(i.e. normal serum calcium, phosphorus, and PTHlevels) an early diagnosis is often missed and delayedfor many years. Herein, we present a case of miliaryosteoma cutis of the face in a 68 year-old woman withphenotypic features of AHO and laboratory studiesconsistent with type 1a PHP. [Mh] Termos MeSH primário: Doenças Ósseas Metabólicas/diagnóstico Dermatoses Faciais/diagnóstico Ossificação Heterotópica/diagnóstico Pseudo-Hipoparatireoidismo/diagnóstico Dermatopatias Genéticas/diagnóstico [Mh] Termos MeSH secundário: Acne Vulgar Idoso Doenças Ósseas Metabólicas/complicações Doenças Ósseas Metabólicas/patologia Braquidactilia Dermatoses Faciais/complicações Dermatoses Faciais/patologia Feminino Seres Humanos Ossificação Heterotópica/complicações Ossificação Heterotópica/patologia Pseudo-Hipoparatireoidismo/complicações Dermatopatias Genéticas/complicações Dermatopatias Genéticas/patologia [Pt] Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE [Em] Mês de entrada: 1710 [Cu] Atualização por classe: 171017 [Lr] Data última revisão: 171017 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170323 [St] Status: MEDLINE

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[PMID]: 28323910 [Au] Autor: Usardi A; Mamoune A; Nattes E; Carel JC; Rothenbuhler A; Linglart A [Ad] Endereço: Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Platform of Expertise Paris-Sud for Rare Diseases and Filière OSCAR, AP-HP, Bicêtre Paris-Sud Hospital, 94270 Le Kremlin-Bicêtre, France. [Ti] Título: Progressive Development of PTH Resistance in Patients With Inactivating Mutations on the Maternal Allele of GNAS. [So] Source: J Clin Endocrinol Metab;102(6):1844-1850, 2017 Jun 01. [Is] ISSN: 1945-7197 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: Context: Parathormone (PTH) resistance is characterized by hypocalcaemia, hyperphosphatemia, and elevated PTH in the absence of vitamin D deficiency. Pseudohypoparathyroidism type 1A [PHP1A, or inactivating parathormone (PTH)/PTHrp signaling disorder 2, according to the new classification (iPPSD2)], is caused by mutations in the maternal GNAS allele. Objective: To assess PTH resistance over time in 20 patients affected by iPPSD2 (PHP1A), diagnosed because of family history, ectopic ossification, or short stature, and carrying a GNAS mutation. Methods: We gathered retrospective data for calcium, phosphate, thyrotropin (TSH), and PTH levels at regular intervals. PTH infusion testing (teriparatide) was performed in 1 patient. Results: Patients were diagnosed at a mean age of 3.9 years and had a mean follow-up of 2 years. TSH resistance was already present at diagnosis in all patients (TSH, 13.3 ± 9.0 mIU/L). Over time, PTH levels increased (179 to 306 pg/mL; P < 0.05), and calcium levels decreased (2.31 to 2.21 mmol/L; P < 0.05), but phosphate levels did not decrease with age as expected for healthy individuals. One patient born with ectopic ossifications showed an increase in cyclic adenosine monophosphate upon PTH infusion, similar to that of controls, at 7 months of age, but an impaired response at 4 years of age. Conclusions: In patients with iPPSD2 (PHP1A), PTH resistance and hypocalcemia develop over time. These findings highlight the importance of screening for maternal GNAS mutations in the presence of ectopic ossifications or family history, even in the absence of PTH resistance and hypocalcemia. The follow-up of these patients should include regular assessments of calcium, phosphate, and PTH levels. [Mh] Termos MeSH primário: Hiperfosfatemia/metabolismo Hipocalcemia/metabolismo Hormônio Paratireóideo/metabolismo Pseudo-Hipoparatireoidismo/metabolismo Tireotropina/metabolismo [Mh] Termos MeSH secundário: Adolescente Cálcio/metabolismo Criança Pré-Escolar Cromograninas/genética AMP Cíclico/metabolismo Progressão da Doença Feminino Subunidades alfa Gs de Proteínas de Ligação ao GTP/genética Seres Humanos Hiperfosfatemia/etiologia Hipocalcemia/etiologia Lactente Recém-Nascido Masculino Herança Materna Mutação Fosfatos/metabolismo Pseudo-Hipoparatireoidismo/complicações Pseudo-Hipoparatireoidismo/genética Estudos Retrospectivos [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (Chromogranins); 0 (Parathyroid Hormone); 0 (Phosphates); 9002-71-5 (Thyrotropin); E0399OZS9N (Cyclic AMP); EC 3.6.1.- (GNAS protein, human); EC 3.6.5.1 (GTP-Binding Protein alpha Subunits, Gs); SY7Q814VUP (Calcium) [Em] Mês de entrada: 1709 [Cu] Atualização por classe: 170911 [Lr] Data última revisão: 170911 [Sb] Subgrupo de revista: AIM; IM [Da] Data de entrada para processamento: 170322 [St] Status: MEDLINE [do] DOI: 10.1210/jc.2016-3544

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[PMID]: 28296742 [Au] Autor: Song CY; Zhao ZX; Li W; Sun CC; Liu YM [Ad] Endereço: Department of Neurology, Qilu Hospital of Shandong University, Jinan, China. [Ti] Título: Pseudohypoparathyroidism with basal ganglia calcification: A case report of rare cause of reversible parkinsonism. [So] Source: Medicine (Baltimore);96(11):e6312, 2017 Mar. [Is] ISSN: 1536-5964 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: RATIONALE: Parkinsonism can be secondary to many internal diseases, in some certain conditions, it seems that the clinical manifestations of parkinsonism presenting reversible. We report a case of patient with parkinsonism secondary to pseudohypoparathyroidism, who improved markedly after the supplement of serum calcium. PATIENT CONCERNS AND DIAGNOSES: A 52-year-old woman with acute parkinsonism was diagnosed as pseudohypoparathyroidism after the conducting of brain computed tomography, laboratory examinations, and gene detection. The son of the patient was also examined and was diagnosed as pseudohypoparathyroidism, who had ever complained of the history of epilepsy. The clinical manifestations of parkinsonism of the patient was reevaluated after the supplement of serum calcium according to the diagnosis. INTERVENTIONS AND OUTCOMES: The brain computed tomography revealed the basal ganglia calcification of the patient, accompanying by serum hypocalcemia and hyperphosphatemia. Loss of function mutation also confirmed the diagnosis. Five days after the therapy targeting at correction of serum hypocalcemia, the patient improved greatly in dyskinesia. LESSONS: This study reported a patient presenting as acute reversible parkinsonism, who was finally diagnosed as pseudohypoparathyroidism. It indicated us that secondary parkinsonism should be carefully differentiated for its dramatic treatment effect. And the family history of seizures might be an indicator for the consideration of pseudohypoparathyroidism. [Mh] Termos MeSH primário: Transtornos Parkinsonianos/etnologia Pseudo-Hipoparatireoidismo/complicações [Mh] Termos MeSH secundário: Doenças dos Gânglios da Base/complicações Calcinose/complicações Cálcio/uso terapêutico Feminino Seres Humanos Meia-Idade Pseudo-Hipoparatireoidismo/tratamento farmacológico [Pt] Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE [Nm] Nome de substância: SY7Q814VUP (Calcium) [Em] Mês de entrada: 1703 [Cu] Atualização por classe: 170403 [Lr] Data última revisão: 170403 [Sb] Subgrupo de revista: AIM; IM [Da] Data de entrada para processamento: 170316 [St] Status: MEDLINE [do] DOI: 10.1097/MD.0000000000006312

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[PMID]: 28084650 [Au] Autor: Grigelioniene G; Nevalainen PI; Reyes M; Thiele S; Tafaj O; Molinaro A; Takatani R; Ala-Houhala M; Nilsson D; Eisfeldt J; Lindstrand A; Kottler ML; Mäkitie O; Jüppner H [Ad] Endereço: Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. [Ti] Título: A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B). [So] Source: J Bone Miner Res;32(4):776-783, 2017 04. [Is] ISSN: 1523-4681 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: Pseudohypoparathyroidism type Ib (PHP1B) is characterized primarily by resistance to parathyroid hormone (PTH) and thus hypocalcemia and hyperphosphatemia, in most cases without evidence for Albright hereditary osteodystrophy (AHO). PHP1B is associated with epigenetic changes at one or several differentially-methylated regions (DMRs) within GNAS, which encodes the α-subunit of the stimulatory G protein (Gsα) and splice variants thereof. Heterozygous, maternally inherited STX16 or GNAS deletions leading to isolated loss-of-methylation (LOM) at exon A/B alone or at all maternal DMRs are the cause of autosomal dominant PHP1B (AD-PHP1B). In this study, we analyzed three affected individuals, the female proband and her two sons. All three revealed isolated LOM at GNAS exon A/B, whereas the proband's healthy maternal grandmother and uncle showed normal methylation at this locus. Haplotype analysis was consistent with linkage to the STX16/GNAS region, yet no deletion could be identified. Whole-genome sequencing of one of the patients revealed a large heterozygous inversion (1,882,433 bp). The centromeric breakpoint of the inversion is located 7,225 bp downstream of GNAS exon XL, but its DMR showed no methylation abnormality, raising the possibility that the inversion disrupts a regulatory element required only for establishing or maintaining exon A/B methylation. Because our three patients presented phenotypes consistent with PHP1B, and not with PHP1A, the Gsα promoter is probably unaffected by the inversion. Our findings expand the spectrum of genetic mutations that lead to LOM at exon A/B alone and thus biallelic expression of the transcript derived from this alternative first GNAS exon. © 2017 American Society for Bone and Mineral Research. [Mh] Termos MeSH primário: Cromograninas/genética Transtornos Cromossômicos/genética Inversão Cromossômica Éxons Subunidades alfa Gs de Proteínas de Ligação ao GTP/genética Genes Dominantes Heterozigoto Pseudo-Hipoparatireoidismo/genética [Mh] Termos MeSH secundário: Adulto Criança Pré-Escolar Feminino Seres Humanos Masculino Sintaxina 16/genética [Pt] Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T [Nm] Nome de substância: 0 (Chromogranins); 0 (STX16 protein, human); 0 (Syntaxin 16); EC 3.6.1.- (GNAS protein, human); EC 3.6.5.1 (GTP-Binding Protein alpha Subunits, Gs) [Em] Mês de entrada: 1707 [Cu] Atualização por classe: 171124 [Lr] Data última revisão: 171124 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170114 [St] Status: MEDLINE [do] DOI: 10.1002/jbmr.3083

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[PMID]: 27995443 [Au] Autor: Tafaj O; Jüppner H [Ad] Endereço: Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Thier 10, 50 Blossom Street, Boston, MA, 02114, USA. [Ti] Título: Pseudohypoparathyroidism: one gene, several syndromes. [So] Source: J Endocrinol Invest;40(4):347-356, 2017 Apr. [Is] ISSN: 1720-8386 [Cp] País de publicação: Italy [La] Idioma: eng [Ab] Resumo: Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are caused by mutations and/or epigenetic changes at the complex GNAS locus on chromosome 20q13.3 that undergoes parent-specific methylation changes at several sites. GNAS encodes the alpha-subunit of the stimulatory G protein (Gsα) and several splice variants thereof. Heterozygous inactivating mutations involving the maternal GNAS exons 1-13 cause PHP type Ia (PHP1A). Because of much reduced paternal Gsα expression in certain tissues, such as the proximal renal tubules, thyroid, and pituitary, there is little or no Gsα protein in the presence of maternal GNAS mutations, thus leading to PTH-resistant hypocalcemia and hyperphosphatemia. When located on the paternal allele, the same or similar GNAS mutations are the cause of PPHP. Besides biochemical abnormalities, patients affected by PHP1A show developmental abnormalities, referred to as Albrights hereditary osteodystrophy (AHO). Some, but not all of these AHO features are encountered also in patients affected by PPHP, who typically show no laboratory abnormalities. Autosomal dominant PHP type Ib (AD-PHP1B) is caused by heterozygous maternal deletions within GNAS or STX16, which are associated with loss-of-methylation (LOM) at exon A/B alone or at all maternally methylated GNAS exons. LOM at exon A/B and the resulting biallelic expression of A/B transcripts reduces Gsα expression, thus leading to hormonal resistance. Epigenetic changes at all differentially methylated GNAS regions are also observed in sporadic PHP1B, the most frequent disease variant, which remains unresolved at the molecular level, except for rare cases with paternal uniparental isodisomy or heterodisomy of chromosome 20q (patUPD20q). [Mh] Termos MeSH primário: Epigênese Genética/genética Subunidades alfa Gs de Proteínas de Ligação ao GTP/genética Pseudo-Hipoparatireoidismo/genética [Mh] Termos MeSH secundário: Animais Seres Humanos [Pt] Tipo de publicação: JOURNAL ARTICLE; REVIEW [Nm] Nome de substância: EC 3.6.5.1 (GTP-Binding Protein alpha Subunits, Gs) [Em] Mês de entrada: 1708 [Cu] Atualização por classe: 171115 [Lr] Data última revisão: 171115 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 161221 [St] Status: MEDLINE [do] DOI: 10.1007/s40618-016-0588-4

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[PMID]: 27991864 [Au] Autor: Chen M; Shrestha YB; Podyma B; Cui Z; Naglieri B; Sun H; Ho T; Wilson EA; Li YQ; Gavrilova O; Weinstein LS [Ti] Título: Gsα deficiency in the dorsomedial hypothalamus underlies obesity associated with Gsα mutations. [So] Source: J Clin Invest;127(2):500-510, 2017 Feb 01. [Is] ISSN: 1558-8238 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: Gsα, encoded by Gnas, mediates hormone and neurotransmitter receptor-stimulated cAMP generation. Heterozygous Gsα-inactivating mutations lead to obesity in Albright hereditary osteodystrophy (AHO) patients, but only when the mutations occur on the maternal allele. This parent-of-origin effect is due to Gsα imprinting in the CNS, although the relevant CNS regions are unknown. We have now shown that mice with a Gnas gene deletion disrupting Gsα expression on the maternal allele, but not the paternal allele, in the dorsomedial nucleus of the hypothalamus (DMH) developed obesity and reduced energy expenditure without hyperphagia. Although maternal Gnas deletion impaired activation of brown adipose tissue (BAT) in mice, their responses to cold environment remained intact. Similar findings were observed in mice with DMH-specific deficiency of melanocortin MC4R receptors, which are known to activate Gsα. Our results show that Gsα imprinting in the DMH underlies the parent-of-origin metabolic phenotype that results from Gsα mutations and that DMH MC4R/Gsα signaling is important for regulation of energy expenditure and BAT activation, but not the metabolic response to cold. [Mh] Termos MeSH primário: Tecido Adiposo Marrom Cromograninas Núcleo Hipotalâmico Dorsomedial Metabolismo Energético/genética Subunidades alfa Gs de Proteínas de Ligação ao GTP Impressão Genômica Mutação Obesidade [Mh] Termos MeSH secundário: Tecido Adiposo Marrom/metabolismo Tecido Adiposo Marrom/fisiopatologia Alelos Animais Cromograninas/genética Cromograninas/metabolismo Temperatura Baixa Núcleo Hipotalâmico Dorsomedial/metabolismo Núcleo Hipotalâmico Dorsomedial/fisiopatologia Subunidades alfa Gs de Proteínas de Ligação ao GTP/genética Subunidades alfa Gs de Proteínas de Ligação ao GTP/metabolismo Seres Humanos Camundongos Camundongos Knockout Obesidade/genética Obesidade/metabolismo Obesidade/fisiopatologia Pseudo-Hipoparatireoidismo/genética Pseudo-Hipoparatireoidismo/metabolismo Pseudo-Hipoparatireoidismo/fisiopatologia Receptor Tipo 4 de Melanocortina/genética Receptor Tipo 4 de Melanocortina/metabolismo Transdução de Sinais/genética [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (Chromogranins); 0 (MC4R protein, mouse); 0 (Receptor, Melanocortin, Type 4); EC 3.6.1.- (Gnas protein, mouse); EC 3.6.5.1 (GTP-Binding Protein alpha Subunits, Gs) [Em] Mês de entrada: 1709 [Cu] Atualização por classe: 170907 [Lr] Data última revisão: 170907 [Sb] Subgrupo de revista: AIM; IM [Da] Data de entrada para processamento: 161220 [St] Status: MEDLINE

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[PMID]: 27425121 [Au] Autor: Sahin S; Hiort O; Thiele S; Evliyaoglu O; Tüysüz B [Ti] Título: Follow-up Findings in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation in the GNAS Gene. [So] Source: J Clin Res Pediatr Endocrinol;9(1):74-79, 2017 Mar 01. [Is] ISSN: 1308-5735 [Cp] País de publicação: Turkey [La] Idioma: eng [Ab] Resumo: Pseudohypoparathyroidism type Ia (PHP-Ia) is characterized by multihormone resistance and an Albright hereditary osteodystrophy (AHO) phenotype. It is caused by heterozygous mutations in gene. Clinical and biochemical findings of a female PHP-Ia patient were evaluated from age of diagnosis (6.5 years) to 14.5 years of age. The patient had short stature, brachydactyly, and subcutaneous heterotopic ossifications. Serum calcium and phosphorus levels were normal, but parathyroid hormone levels were high. Based on the typical clinical findings of AHO phenotype and biochemical findings, she was diagnosed as having PHP-Ia. A novel heterozygous mutation (c.128T>C) was found in the gene. Follow-up examinations revealed resistance to thyroid-stimulating hormone and a bioinactive growth hormone. Clinicians should take into consideration PHP-Ia in patients referred with short stature, and patients with an AHO phenotype must be further evaluated for hormone resistance, gene mutation, Gsα activity. To our knowledge, this is the first case report describing bioinactive growth hormone in PHP-Ia. [Mh] Termos MeSH primário: Cromograninas/genética Subunidades alfa Gs de Proteínas de Ligação ao GTP/genética Predisposição Genética para Doença/genética Mutação Pseudo-Hipoparatireoidismo/genética [Mh] Termos MeSH secundário: Adolescente Criança Análise Mutacional de DNA Feminino Seguimentos Heterozigoto Seres Humanos Pseudo-Hipoparatireoidismo/classificação Pseudo-Hipoparatireoidismo/diagnóstico Turquia [Pt] Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE [Nm] Nome de substância: 0 (Chromogranins); EC 3.6.1.- (GNAS protein, human); EC 3.6.5.1 (GTP-Binding Protein alpha Subunits, Gs) [Em] Mês de entrada: 1707 [Cu] Atualização por classe: 170707 [Lr] Data última revisão: 170707 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 160719 [St] Status: MEDLINE [do] DOI: 10.4274/jcrpe.3191

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