Thyroxin-binding globulin deficiency in a boy with fragile X syndrome: a case report

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

Factors Associated with Newly Diagnosed Children with Diabetic Ketoacidosis

Background: Diabetes mellitus type 1 is one of the most prevalent endocrine diseases in pediatrics. Diabetic ketoacidosis is considered as one of the most threatening clinical pictures of DM1, especially if occurred as the first presentation of DM1 in children. Objectives: The current study aimed to identify factors which may play a role in DKA onset in children. Methods: This case-control study included all patients under 18 years old who referred to department of pediatrics endocrinology at Mashhad University Hospital (Imam Reza) from January 2013 to December 2015 as newly diagnosed patients with DM1. Patients who fulfilled DKA criteria at diagnosis were considered as DKA group and those who referred with other presentations were considered as control group (non-DKA group). Data were analyzed by SPSS software ver. 16. Results: During the study period, 97 (39.2% male) newly diagnosed patients were included as DKA group. Accordingly 97 gender- and age-matched patients were added as non-DKA group. The most prevalent symptoms in both groups were polyuria (91.88%) and polydipsia (88.66%). Fever and cold symptoms were significantly higher in the DKA group (P < 0.001 and P =0.005, respectively). Hemoglobin A1c level was significantly higher in the DKA group (P = 0.001), while body mass index was significantly lower in the DKA group (P = 0.045). Fever and father’s education level were the most important risk and protective factors in the DKA onset in newly diagnosed patients with DM1 (adjusted OR = 10.1, 95% CI = 2.9-35.3; P < 0.001 and adjusted OR = 0.5, 95% CI = 0.3 - 0.9 and P = 0.019, respectively). Conclusions: In conclusion, a recent febrile illness was found as the strongest risk factor and father’s education level as the main protective factor in the DKA to diagnose children with DM1. The study findings suggested that DKA is a severe form of DM1 instead of a neglected or misdiagnosed disease

Factors Associated with Newly Diagnosed Children with Diabetic Ketoacidosis

Background Diabetes mellitus type 1 is one of the most prevalent endocrine diseases in pediatrics. Diabetic ketoacidosis is considered as one of the most threatening clinical pictures of DM1, especially if occurred as the first presentation of DM1 in children. Objectives The current study aimed to identify factors which may play a role in DKA onset in children. Methods This case-control study included all patients under 18 years old who referred to department of pediatrics endocrinology at Mashhad University Hospital (Imam Reza) from January 2013 to December 2015 as newly diagnosed patients with DM1. Patients who fulfilled DKA criteria at diagnosis were considered as DKA group and those who referred with other presentations were considered as control group (non-DKA group). Data were analyzed by SPSS software ver. 16. Results During the study period, 97 (39.2% male) newly diagnosed patients were included as DKA group. Accordingly 97 gender- and age-matched patients were added as non-DKA group. The most prevalent symptoms in both groups were polyuria (91.88%) and polydipsia (88.66%). Fever and cold symptoms were significantly higher in the DKA group (P < 0.001 and P =0.005, respectively). Hemoglobin A1c level was significantly higher in the DKA group (P = 0.001), while body mass index was significantly lower in the DKA group (P = 0.045). Fever and father’s education level were the most important risk and protective factors in the DKA onset in newly diagnosed patients with DM1 (adjusted OR = 10.1, 95% CI = 2.9-35.3; P < 0.001 and adjusted OR = 0.5, 95% CI = 0.3 - 0.9 and P = 0.019, respectively). Conclusions In conclusion, a recent febrile illness was found as the strongest risk factor and father’s education level as the main protective factor in the DKA to diagnose children with DM1. The study findings suggested that DKA is a severe form of DM1 instead of a neglected or misdiagnosed disease