Paternal X could relate to arithmetic function; study of cognitive function and parental origin of X chromosome in Turner syndrome.

BACKGROUND: 45,X Turner syndrome (TS) female subjects have visuospatial skill and social cognition deficits that may arise from X-linked imprinting. The aim of the present study was to compare phenotypic characteristics and neurocognitive pattern of 12 monosomic TS girls, according to X-linked imprinting. METHODS: Microsatellite markers were used to determine the parental origin of the missing chromosome X. Wechsler Intelligence Scale for Children-Revised (WISC-R) was administered as measures of general intellectual functioning. The results were compared in TS patients with maternally derived X chromosome (Xm) and paternally derived X chromosome (Xp). RESULTS: Six out of 12 patients (50%) had Xm, and the other six (50%) had Xp chromosome. There was no difference in the total, verbal and performance IQ score between the TS subgroups with Xm and Xp. When the WISC-R subtest score patterns were compared, the mean arithmetic scores were significantly poorer in the Xm TS than in the Xp TS. CONCLUSION: In monosomic TS cases, paternal imprinting may predict arithmetic ability, on the other hand, reductionist consideration defined by genetic imprinting is not sufficient to confirm this. Further studies should be undertaken to clarify this situation.

Disorders of gonadal development: a broad clinical, cytogenetic and histopathologic spectrum.

The most complicated group of sexual differentiation disorders is that of gonadal development. Disorders of gonadal development form a wide clinical, cytogenetic and histopathological spectrum. There are still some unsolved difficulties of diagnosis, development of malignancy and the sex rearing of these patients. We reviewed 23 cases of gonadal developmental disorders among 169 patients with ambiguous genitalia or delayed puberty. Among 169 patients, 87 patients were 46,XY disorders of sex development (DSD), 59 patients were 46,XX DSD without disorders of gonadal development and the remaining 23 patients had disorders of gonadal development. Nine of these 23 patients were diagnosed as 46,XY gonadal dysgenesis, 7 patients had ovotesticular DSD, 5 patients had 45,X/46,XY mixed gonadal dysgenesis. Fourteen patients with disorders of gonadal development had genital ambiguity, 5 patients had a female genital phenotype with a palpable gonad and/or delayed puberty. Four patients had the male genital phenotype. Disorder of gonadal development is a very important clinical problem with different aspects of diagnosis, treatment, rearing sex and prophylaxis. Each patient should be evaluated individually employing a multidiciplinary approach.

Importance of thyroglobulin levels for diagnosis and monitoring of follicular thyroid carcinoma in an adolescent with severe iodine deficiency.

Optimal management of differentiated thyroid cancer in childhood is undetermined. During monitoring of thyroid carcinoma, serum thyroglobulin (hTG) levels provide valuable information. hTG levels not only increase in differentiated thyroid cancers but also in iodine deficiency because of compensation by the thyroid gland. A 14.6 year-old girl was diagnosed with nodular goiter, subclinical hypothyroidism and severe iodine deficiency. She had a very high hTG level. Despite benign fine-needle aspiration biopsy (FNAB), because the hTG level was still very high after treatment with LT4, thyroidectomy was undergone. Cytopathological examination showed minimally invasive follicular thyroid carcinoma. During follow-up, to exclude the presence of persistent/recurrent disease, the hTG level rose to an undesirably high level after withdrawal of TSH suppressive therapy, and radioiodine ablation therapy was applied. This report shows that even if there is an explanation for nodular goiter and high hTG levels, such as iodine deficiency, malignancy cannot be ruled out without thyroidectomy. FNAB is not reliable especially in iodine deficient areas. Serum hTG measurement is a valuable tool for both diagnosis and follow-up of differentiated thyroid carcinoma in children.

Depression, levels of anxiety and self-concept in girls with Turner's syndrome.

Self-esteem, depressive symptoms and anxiety symptoms in girls with Turner's syndrome (TS) were compared to those in girls with familial short stature (FSS) and healthy controls (NC). Eleven girls with TS, 9-17 years of age, all with 45,X0 karyotype, who were matched with 11 girls with FSS and 11 NC girls who had similar socio-demographic characteristics, were enrolled in the study. The Children's Depression Inventory (CDI), State-Trait Anxiety Inventory for Children (STAIC), and Piers-Harris Children's Self Concept Scale (PHSCS) were used to assess the extent of depression, anxiety and self reported self-esteem. The PHSCS means and standard deviations of the TS, FSS and NC groups were 56.2 +/- 6.7, 62.7 +/- 6.9, and 69.3 +/- 6.0, and the STAIC-state anxiety means and standard deviations were 30.6 +/- 4.5, 28.8 +/- 6.1, and 25.7 +/- 3.7, respectively. Study findings showed that girls with TS had lower self-esteem and higher state anxiety levels than NC (p <0.05). In spite of the small sample size, findings showed that girls with TS were at risk of psychological problems. Therefore, in addition to medical treatment and monitoring, girls with TS should also be supported psychologically by social, educational and psychotherapeutic interventions which aim to address their self-esteem and emotional difficulties.