Raheleh Mirsadraee; Saba Vakili; Mohammad Reza Abbaszadegan; Rahim Vakili
Abstract
Fragile X syndrome (FXS) is the most common known genetic cause of male intellectual disability. A wide variety of medical problems has been reported in FXS syndrome including seizures, facial abnormalities, macroorchidism, and autistic disorders. Here we reported a 9-year-old boy with fragile X syndrome ...
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Fragile X syndrome (FXS) is the most common known genetic cause of male intellectual disability. A wide variety of medical problems has been reported in FXS syndrome including seizures, facial abnormalities, macroorchidism, and autistic disorders. Here we reported a 9-year-old boy with fragile X syndrome that was confirmed through karyotyping and mental retardation. Initially, he was diagnosed as hypothyroidism when he was 15 months old. However, due to unusual clinical presentation, we re-evaluated the patient according to his history and clinical findings. Subsequently, targeted laboratory tests were performed and the results were indicative for thyroxin-binding globulin (TBG) deficiency in our patient. Therefore, levothyroxine was discontinued and one month later, laboratory tests were repeated and his diagnosis confirmed. As inherited TBG deficiency might also be X-linked, FXS and TBG deficiency may be coincidental findings in the patient.
Negar Khalighi; Rahim Vakili; Mohammad Ali kiani; Seyed Ali Jafari; Hamid Reza Kianifar
Abstract
Introduction: Cystic fibrosis is one of the most common autosomal recessive diseases that affects sweat glands and mucosa. CF is a hereditary disease with annual incidence of about 2500 new cases in United Kingdom. Insulin-like growth factor-1 (IGF-1) and insulin-like growth factor binding protein-3 ...
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Introduction: Cystic fibrosis is one of the most common autosomal recessive diseases that affects sweat glands and mucosa. CF is a hereditary disease with annual incidence of about 2500 new cases in United Kingdom. Insulin-like growth factor-1 (IGF-1) and insulin-like growth factor binding protein-3 levels decrease in CF. The aim of this study was to assess the role of growth peptides in patients with CF. Method: We searched PubMed, Google scholar, IranMedex, and Scientific Information Database (SID) in September 2012 to April 2014. We included clinical studies with available abstracts and full texts that were in English or Persian languages. Manual searching was conducted within the reference lists of articles. Two reviewers independently applied eligibility criteria, assessed quality, and extracted data.Result: The earliest study was published in 1997 and the most recent one was in 2014. Study participants were adults in 3 studies (20%) and 12 studies (80%) were conducted in children. Patients with CF have lower levels of IGF-1 and there is a significant correlation between IGF-1 levels and growth index in patients with CF.Conclusions: IGF-1 decreases in children with CF and might be the cause of poor growth and low body mass index in these children.