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ABSTRACT: Thyroid carcinoma (TC) combined with congenital hypothyroidism is rare. The synchronous occurrence of these two conditions is even rarer. We describe a patient with congenital hypothyroidism in whom hyperthyroglobulinemia and nodules developed despite adequate replacement therapy. Papillary TC was detected at age 19 years. Postoperative diagnostic scintigraphy showed increased uptake in the thyroglossal duct region. Repetitive imaging of the thyroid gland can be useful in the early detection of TC in patients with congenital hypothyroidism. Moreover, this rare situation can be complicated by a synchronous thyroglossal duct carcinoma. Thyroglossal duct carcinoma can be detected if diagnostic scintigraphy is performed after total thyroidectomy.
Journal of Clinical Research in Pediatric Endocrinology 03/2012; 4(1):30-3.
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Gönül Öçal
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ABSTRACT: Disorders of sex development (DSD) with or without ambiguous genitalia require medical attention to reach a definite diagnosis. Advances in identification of molecular causes of abnormal sex, heightened awareness of ethical issues and this necessitated a re-evaluation of nomenclature. The term DSD was proposed for congenital conditions in which chromosomal, gonadal or anatomical sex is atypical. In general, factors influencing sex determination are transcriptional regulators, whereas factors important for sex differentiation are secreted hormones and their receptors. The current intense debate on the management of patients with intersexuality and related conditions focus on four major issues: 1) aetiological diagnosis, 2) assignment of gender, 3) indication for and timing of genital surgery, 4) the disclosure of medical information to the patient and his/her parents. The psychological and social implications of gender assignment require a multidisciplinary approach and a team which includes ageneticist, neonatologist, endocrinologist, gynaecologist, psychiatrist, surgeon and a social worker. Each patient should be evaluated individually by multidisciplinary approach.
Journal of Clinical Research in Pediatric Endocrinology 09/2011; 3(3):105-14.
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ABSTRACT: The management of children with diabetic ketoacidosis (DKA) continues to be a controversial issue with regard to amount of intravenous fluid to be given, rate of delivery of fluid, and type of fluid to be used. We aimed to analyze the results obtained by administration of rehydration fluids of two different sodium (Na) concentrations (75 mEq/L vs. 100 mEq/L) in the treatment of children with DKA.
Thirty-two children with DKA were assessed for efficacy and safety of fluid treatment. After an initial rehydration time, intravenous fluids were switched to a 5% dextrose solution with a Na content of 75 mEq/L (Group I, n=19) or 100 mEq/L (Group II, n=13). Venous blood samples were collected from all subjects at diagnosis and at the 4th, 8th, 16th and 24th hours of treatment.
Changes in blood glucose levels did not differ significantly between the two groups at the 4th, 8th, 16th and 24th hours of the follow-up. Nadir effective plasma osmolality (Peff osm) and Peff osm levels also did not show statistically significant differences. Plasma sodium (PNa) level did not drop lower than the level at diagnosis in both groups. The changes in PNa concentrations in the two groups were not statistically significant at diagnosis or in follow-up samples (p=0.74). pH, anion gap, pCO₂ and HCO₃ levels were also similar in Group I and Group II. The duration of a pH level of <7.3 was shorter in Group II, but this was not statistically significant (p=0.65). None of the patients enrolled in this study developed cerebral edema.
The efficacy and safety of rehydration fluids with Na concentrations of 75 or 100 mEq/L did not reveal any differences in children with DKA.
Journal of Clinical Research in Pediatric Endocrinology 09/2011; 3(3):149-53.
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ABSTRACT: DiGeorge syndrome (DGS) has classically been characterized by the triad of clinical features including congenital cardiac defects, immune deficiencies secondary to aplasia or hypoplasia of the thymus, and hypocalcaemia due to small or absent parathyroid glands. The phenotypic features of these patients are much more variable and extensive than previously recognized. The acknowledgement of similarities and phenotypic overlap of DGS with other disorders associated with genetic defects in 22q11 has led to an expanded description of the phenotypic features of DGS including palatal/speech abnormalities, as well as cognitive, neurological and psychiatric disorders. Here, we report the cases of two DGS patients with dysmorphic facial features who were initially admitted to the Psychiatry Department for attention disorder and learning difficulties.
Journal of Clinical Research in Pediatric Endocrinology 06/2011; 3(2):95-7.
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ABSTRACT: Parental height is an important factor for predicting growth hormone (GH) effectiveness in children with GH deficiency (GHD). The aim of the study was to evaluate the effect of GH administration on final height in 2 groups of isolated GHD children, those with short parents or normal height parents.
Forty-nine GHD patients with similar clinical characteristics were studied. Eighteen patients had familial short stature (group 1), while 31 of patients had normal familial stature (group 2).
At the start of therapy, initial height, age of admission, bone age, GH dose, birth weight, and IGF-I, GH stimulating tests peak levels were similar in both groups. During GH treatment the year response to therapy was not different between the groups. The adjusted deficit of height was more profound in group 1 than group 2. Although the final height was similar in both groups, total height improvement was better in group 2 than group 1. Parentally adjusted final height was significantly worse in group 2 than group 1. While bone age advancement at the end of therapy was higher in group 1 than group 2, the duration of therapy, age, and IGF-I at cessation of therapy were similar.
Children with low target height standard deviation score (TH SDS) attained better final height than expected. Although at the start of therapy the groups were very homogenous, height improvement was different between the groups, and this can be explained partly by the bone age advancement being much more in GHD children with low TH SDS.
The Endocrinologist 10/2009; 19(6):285-287. · 0.09 Impact Factor
