Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect
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چکیده
منابع مشابه
Role of microRNAs in premature ovarian insufficiency
Premature ovarian insufficiency (POI) is a typical disorder of amenorrhea lasting for a minimum of 4 months. The typical characteristics comprised of declined estrogen and raised serum concentrations of follicle-stimulating hormone (FSH) in women <40-year-old, primarily originating from iatrogenic factors, karyotypic abnormalities, and genetic factors. However, the etiology of POI remains unkno...
متن کاملPossible Role of Autoimmunity in Patients with Premature Ovarian Insufficiency
BACKGROUND To evaluate the involvement of immune abnormality in patients with idiopathic premature ovarian insufficiency (POI). In addition to the known etiology, autoimmune disorders may be a pathologic mechanism for POI. MATERIALS AND METHODS Our study was a prospective controlled trial. Twenty women with POI, reasons other than autoimmune excluded, were enrolled in this study. The control ...
متن کاملESHRE Guideline: management of women with premature ovarian insufficiency.
STUDY QUESTION What is the optimal management of women with premature ovarian insufficiency (POI) based on the best available evidence in the literature? SUMMARY ANSWER The guideline development group (GDG) formulated 99 recommendations answering 31 key questions on the diagnosis and treatment of women with POI. WHAT IS KNOWN ALREADY NA. STUDY DESIGN, SIZE, DURATION This guideline was pro...
متن کاملThe Genetics of Non-Syndromic Primary Ovarian Insufficiency: A Systematic Review
Purpose: Several causes for primary ovarian insufficiency have been described, including iatrogenic and environmental factor, viral infections, chronic disease as well as genetic alterations. Given the large number of genes described in the literature so far, the aim of this review was to collect all the genetic mutations associated with non-syndromic primary ovarian insufficiency. Methods: All...
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Thirty-five consecutive patients with ventricular septal defect (VSD) associated with aortic insufficiency (AI) who underwent corrective surgery are presented. There were seven operative and three late deaths among the patients operated upon before 1968. No death, however, was encountered among the most recent 18 consecutive patients. The VSD was closed directly in 14 patients and with a Teflon...
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ژورنال
عنوان ژورنال: Clinical Genetics
سال: 2020
ISSN: 0009-9163,1399-0004
DOI: 10.1111/cge.13725