Resting Energy Expenditure Is Decreased in Pseudohypoparathyroidism Type 1A

Roizen, Jeffrey D.; Danzig, Jennifer A.; Groleau, Véronique; McCormack, Shana E.; Casella, Alex; Harrington, Jennifer; Sochett, Etienne; Tershakovec, Andrew M.; Zemel, Babette S.; Stallings, Virginia A.; Levine, Michael A.

doi:10.1210/jc.2015-3895

Cited by 45 publications

(45 citation statements)

References 42 publications

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“…Growth hormone deficiency, impaired lipolytic response of adrenaline (101) or decreased resting energy expenditure (106) contribute to the development of obesity in patients with mutations on the maternal allele of GNAS (23,107). Obesity is also a frequent feature in patients affected with acrodysostosis (16,90,108).…”

Section: Obesity/overweightmentioning

confidence: 99%

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

Thiele

Mantovani

Barlier

et al. 2016

European Journal of Endocrinology

133

124

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Objective: Disorders caused by impairments in the parathyroid hormone (PTH) signalling pathway are historically classified under the term pseudohypoparathyroidism (PHP), which encompasses rare, related and highly heterogeneous diseases with demonstrated (epi)genetic causes. The actual classification is based on the presence or absence of specific clinical and biochemical signs together with an in vivo response to exogenous PTH and the results of an in vitro assay to measure Gsa protein activity. However, this classification disregards other related diseases such as acrodysostosis (ACRDYS) or progressive osseous heteroplasia (POH), as well as recent findings of clinical and genetic/epigenetic background of the different subtypes. Therefore, the EuroPHP network decided to develop a new classification that encompasses all disorders with impairments in PTH and/or PTHrP cAMP-mediated pathway. Design and methods: Extensive review of the literature was performed. Several meetings were organised to discuss about a new, more effective and accurate way to describe disorders caused by abnormalities of the PTH/PTHrP signalling pathway. Results and conclusions: After determining the major and minor criteria to be considered for the diagnosis of these disorders, we proposed to group them under the term 'inactivating PTH/PTHrP signalling disorder' (iPPSD). This terminology: (i) defines the common mechanism responsible for all diseases; (ii) does not require a confirmed genetic defect; (iii) avoids ambiguous terms like 'pseudo' and (iv) eliminates the clinical or molecular overlap

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Section: Obesity/overweightmentioning

confidence: 99%

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

Thiele

Mantovani

Barlier

et al. 2016

European Journal of Endocrinology

133

124

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“…Children with PHP1A and obesity show both decreased resting energy expenditure compared with controls with obesity and hyperphagic symptoms similar to those seen in BMI-matched controls with obesity 39,111,112 . In older (late infancy, adolescence and young adulthood) patients, this hyperphagic trait seems to abate 111 , and energy expenditure seems to improve to low-normal 113 .…”

Section: Obesity and Other Metabolic Issuesmentioning

confidence: 68%

“…For instance, affected patients are born with a moderately reduced birth length that usually does not prompt investigations 24,30,[36][37][38] . Obesity might develop in very early life and be recognized before any endocrine disturbances appear in early childhood 30,35,39 . The presence of extensive or progressive ossifications that extend deep into connective tissues is unusual but does not preclude the diagnosis of PHP1A 40,41 .…”

Section: Methodsmentioning

confidence: 99%

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Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement

Mantovani¹,

Lecumberri²,

Baştepe³

et al. 2018

EJEA

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Pseu do hy popar ath yroi dism (PHP) and related disorders are associated with a spectrum of abnormal physical characteristics as well as neurocognitive and endocrine abnormalities that are caused primarily by molecular defects that impair hormonal signalling via receptors that are coupled, through the α-subunit of the stimulatory G protein (G s α), to activation of adenylyl cyclase (Fig. 1). 6,7,20,48 * Abstract | This Consensus Statement covers recommendations for the diagnosis and management of patients with pseu do hy popar ath yroi dism (PHP) and related disorders, which comprise metabolic disorders characterized by physical findings that variably include short bones, short stature, a stocky build, early-onset obesity and ectopic ossifications, as well as endocrine defects that often include resistance to parathyroid hormone (PTH) and TSH. The presentation and severity of PHP and its related disorders vary between affected individuals with considerable clinical and molecular overlap between the different types. A specific diagnosis is often delayed owing to lack of recognition of the syndrome and associated features. The participants in this Consensus Statement agreed that the diagnosis of PHP should be based on major criteria, including resistance to PTH, ectopic ossifications, brachydactyly and early-onset obesity. The clinical and laboratory diagnosis should be confirmed by a molecular genetic analysis. Patients should be screened at diagnosis and during follow-up for specific features, such as PTH resistance, TSH resistance, growth hormone deficiency , hypogonadism, skeletal deformities, oral health, weight gain, glucose intolerance or type 2 diabetes mellitus, and hypertension, as well as subcutaneous and/or deeper ectopic ossifications and neurocognitive impairment. Overall, a coordinated and multidisciplinary approach from infancy through adulthood, including a transition programme, should help us to improve the care of patients affected by these disorders.

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“…В ходе обследования была выявлена деком-пенсация по кальций-фосфорному обмену и гипотиреозу: гипокальциемия (Са ион. 0,87 ммоль/л при норме 1,03-1,29), гиперфосфатемия (1,81 ммоль/л при норме 0,74-1,52), повышение уровня ПТГ до 136 пг/мл , гипотиреоз (ТТГ 7,37 мМЕ/л при норме 0,64-5,76, св.Т4 8,72 пмоль/л при норме 11,[5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20]4) при нормальном уровне аутоантител (АТ) (АТ к тиреопероксидазе (ТПО) 1,77 МЕ/мл, при норме 0-5,6) и отсутствии эхо-признаков аутоиммунного тиреоидита по данным УЗИ щитовидной железы (рис. 7).…”

Section: рисunclassified

Multiple hormonal resistance and metabolic disorders in pseudogypoparatiosis

Dzeranova¹,

Makazan²,

Pigarova³

et al. 2018

Obes. metabol.

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| Ожирение и метаболизм / Obesity and metabolism СЛУЧАЙ ИЗ ПРАКТИКИ АКТУАЛЬНОСТЬСреди редких причин множественных метаболиче-ских нарушений особое место занимает псевдогипопара-тиреоз (ПГП), характеризующийся нечувствительностью к паратгормону (ПТГ) и возможностью формирования мультигормональной резистентности и наследственной остеодистрофии Олбрайта (НОО) [1]. Наследственная остеодистрофия Олбрайта объединяет в себе ряд ха-рактерных фенотипических особенностей: ожирение, подкожные кальцинаты, брахидактилия типа Е, низко-рослость, умственная отсталость, лунообразное лицо. Гормональная резистентность может быть представлена сочетанием нечувствительности к ПТГ с резистентностью к тиреотропному гормону (ТТГ), гормон роста -рилизинг гормону (ГР-РГ), лютеинизирующему/фолликулостиму-лирующему гормонам (ЛГ/ФСГ).В основе заболевания лежат инактивирующие дефек-ты на пострецепторном уровне внутриклеточной пере-дачи сигнала. Механизмы внутриклеточной передачи сигнала от трансмембранного рецептора универсальны для множества пептидных гормонов и ряда других ли-гандов, чем и обусловлен мультисистемный характер нарушений, развивающихся при ПГП. Среди спектра мо-лекулярно-генетических дефектов, ведущих к ПГП, наи-более распространенной и изученной является патоло-гия стимулирующей альфа-субъединицы G-белка (Gas). Особенности экспрессии гена GNAS, кодирующего Gas, обусловливают широкий клинический полиморфизм с неспецифическими вариантами манифестации и от-сутствие четкой генотип-фенотипической корреляции. Псевдогипопаратиреоз -очень редкая патология, в свя-зи с чем каждый случай метаболических нарушений, свя-занных с патологией в гене GNAS, представляет особый интерес. Псевдогипопаратиреоз -редкая группа клинически и генетически гетерогенных заболеваний, обусловленная инак-тивацией ПТГ-сигнального пути. Основным компонентом заболевания является резистентность к паратгормону (ПТГ), обуславливающая нарушение кальций-фосфорного обмена. При псевдогипопаратиреозе также могут отмечаться развитие нечувствительности к тиреотропному и гонадотропным гормонам гипофиза и формирование характерных клинических особенностей в виде подкожных кальцинатов, брахидактилии, ожирения, низкорослости, умственной отсталости. В данной статье приводится описание клинического случая псевдогипопаратиреоза у женщины 35 лет с классическим фенотипом гипопаратиреоза с наследственной остеодистрофией Олбрайта и доказанной мутацией в гене GNAS, обсуждается спектр метаболических расстройств, характерных для данного заболевания.КЛЮЧЕВЫЕ СЛОВА: псевдогипопаратиреоз, ожирение, синдром Фара, паратгормон, гипотиреоз, кальций, гипокальциемия. Pseudohypoparathyroidism is a rare group of clinically and genetically heterogeneous diseases caused by the inactivation of the PTH-signaling pathway. The main component of the disease is resistance to PTH, causing a disturbance of calcium-phosphorus metabolism. With pseudohypoparathyroidism, there may also be a development of insensitivity to thyrotropic and gonadotropic hormones of the pituitary gland and the formation of characte...

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Resting Energy Expenditure Is Decreased in Pseudohypoparathyroidism Type 1A

Abstract: Our results are consistent with REE being the principal cause of obesity in PHP1A rather than it being caused by excessive energy intake or endocrine dysfunction.

Cited by 45 publications

References 42 publications

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement

Multiple hormonal resistance and metabolic disorders in pseudogypoparatiosis

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