perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2017-62-4-93-98perinatology-532Research ArticleНАСЛЕДСТВЕННЫЕ БОЛЕЗНИHEREDITARY DISEASESПСЕВДОГИПОПАРАТИРЕОЗ Iа ТИПА С РАННИМ ДЕБЮТОМ У СЕСТЕРPSEUDOHYPOPARATHYROIDISM Ia TYPE WITH EARLY DEBUT IN SISTERS OF ONE FAMILYТыртоваЛ. В.TyrtovaL. V.

д.м.н., проф. кафедры факультетской педиатрии, зав. эндокринологическим отделением клиники

ОленевА. С.OlenevA. S.

к.м.н., доц. кафедры факультетской педиатрии, врач эндокринологического отделения клиники

ДитковскаяЛ. В.DitkovskajaL. V.

к.м.н., доц. кафедры педиатрии, эндокринологии и абитологии, врач эндокринологического отделения клиники

ПаршинаН. В.ParshinaN. V.

к.м.н., доц. кафедры факультетской педиатрии

СуcпицынЕ. Н.SuspitsinE. N.

к.м.н., доцент кафедры общей и молекулярной медицинской генетики 

ФГБОУ ВО «Санкт-Петербургский государственный педиатрический медицинский университет» Минздрава РоссииРоссияSaint-Petersburg State Pediatric Medical UniversityRussian Federation2017130920176249398Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20172017Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/532

Псевдогипопаратиреоз —редкое генетическое заболевание, характеризующееся устойчивостью органов к паратиреоидному гормону из-за дефекта гуаниннуклеотидсвязывающего белка-альфа (ген GNAS). Пациенты с псевдогипопаратиреозом типа Iа (наследственной остеодистрофиtq Олбрайта) имеют характерный фенотип (ожирение, округлое лицо, низкорослость, короткая шея, брахидактилия и др.), а также мультигормональную резистентность. Приведено наблюдение двух сестер-полусибсов, имеющих различные клинические проявления наследственной остеодистрофии Олбрайта. Генетические исследования выявили мутацию p.D190MfsX14 (c.568 571 delGACT) гена GNAS1(OMIM*139320).

Pseudohypoparathyroidism is a rare genetic disorder characterised by end-organ resistance to parathyroid hormone due to a defect of the guanine nucleotide-binding protein alpha that simulates activity of the polypeptide 1 (GNAS) gene. Patients with type Ia pseudohypoparathyroidism have different features of Albright's hereditary osteodystrophy and characteristic phenotype (obesity, round face, short stature, short neck, brachidactyly, etc.), multi-hormone resistance. We describe two sisters (half sibs), who presented with different symptoms of pseudohypoparathyroidism and clinically manifested different degree of Albright's hereditary osteodystrophy. Genetic study detected a mutation p.D190MfsX14 (c.568 571 delGACT), in theGNAS 1 gene (OMIM*139320).

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The authors declare that there are no conflicts of interest present.