Fragile X Associated Primary Ovarian Insufficiency (FXPOI): Case Report and Literature Review
نویسندگان
چکیده
منابع مشابه
Reproductive and gynecologic care of women with fragile X primary ovarian insufficiency (FXPOI).
OBJECTIVE Approximately 20% of women with a premutation in the FMR1 gene experience primary ovarian insufficiency (POI). We explored diagnostic patterns, frequency of appropriate hormone replacement, obstetric outcomes, fertility treatment, reproductive decisions, and counseling of women with fragile X-associated POI (FXPOI). METHODS Semistructured interviews with 79 women with FXPOI were con...
متن کاملFragile X-Associated Diminished Ovarian Reserve and Primary Ovarian Insufficiency from Molecular Mechanisms to Clinical Manifestations
Fragile X syndrome (FXS), is caused by a loss-of-function mutation in the FMR1 gene located on the X-chromosome, which leads to the most common cause of inherited intellectual disability in males and the leading single-gene defect associated with autism. A full mutation (FM) is represented by more than 200 CGG repeats within the FMR1 gene, resulting in FXS. A FM is inherited from women carrying...
متن کاملTUMOR ASSOCIATED OSTEOMALACIA IN NEUROFIBROMATOSIS: CASE REPORT AND LITERATURE REVIEW
The association of osteomalacia with neurofibromatosis is a very rare entity. Here a 34 year old man, a known case of neurofibromatosis, is reported who presented with bone pain, hypophosphatemia, rena] phosphorus wasting, multiple Looser's pseudofractures, and low bone density. Treatment with high dose calcitriol and phosphate resulted in temporary treatment. Permanent cure was achieved a...
متن کاملPRIMARY PANCREATIC LYMPHOMA: A CASE REPORT AND LITERATURE REVIEW
Primary pancreatic lymphoma is a rare extranodal manifestation of any histopathologic subtype of B cell non-Hodgkin's lymphoma that predominantly involves the pancreas. It comprises less than 0.2% of pancreatic malignancies and less than 0.7% of non-Hodgkin's lymphomas. This lymphoma is almost never suspected clinically. It is usually diagnosed by surgical exploration for suspected adenoca...
متن کاملEarly Onset of Fragile X Associated Tremor and Ataxia Syndrome: A Case Report from Iran
Background: Different alleles of Fragile X Mental Retardation1 (FMR1) gene with separate molecular etiologies cause Fragile X Syndrome (FXS) and Fragile X-associated Tremor and Ataxia Syndrome (FXTAS). Premutation alleles with 55 to 200 repeats in the FMR1 gene lead to FXTAS. It is carried by 1 in 209 women and 1 in 430 men. FXTAS commonly appears in 50- to 70-year-old adults. Case Presentatio...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Frontiers in Genetics
سال: 2018
ISSN: 1664-8021
DOI: 10.3389/fgene.2018.00529