Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 19/genetics , Intellectual Disability/genetics , Seizures/genetics , Adult , Chromosome Banding , Female , Growth Disorders/genetics , Humans , In Situ Hybridization, Fluorescence , Intellectual Disability/pathology , Karyotyping , Mosaicism , Seizures/pathologyABSTRACT
According to neonatal thyroid screening the incidence of congenital hypothyroidism in Estonia is 1:2,860. Transient hyperthyrotropinemia with a raised thyroid-stimulating hormone level of 5 microU/ml occurred in 17.7% of infants and was not associated with low birth weight, small birth length, low gestational age or congenital anomalies. Based on WHO criteria (WHO/UNICEF, 1994) it corresponds to mild iodine deficiency in Estonia (3% or less is in iodine-sufficient areas). This is in agreement with the previously reported median urinary iodine content of 65 microg/l in children. The frequency of infants with TSH >5 microU/ml was 16.4, 21 and 17. 2% in three regions (north, central and south) of Estonia, respectively, indicating mild to moderate iodine deficiency. These findings show the possibility of using the results of newborn screening for congenital hypothyroidism to assess the severity of iodine deficiency in Estonia. The introduction of universal iodine prophylaxis is recommended.
Subject(s)
Congenital Hypothyroidism , Iodine/deficiency , Neonatal Screening , Thyrotropin/blood , Estonia/epidemiology , Female , Humans , Hypothyroidism/diagnosis , Hypothyroidism/epidemiology , Infant, Newborn , MaleABSTRACT
Screening for congenital hypothyroidism was carried out by measuring thyroid stimulating hormone (TSH) on dried blood spots (mean + 2SD cut off value 12 microU/ml) by fluoroimmunoassay using DELFIA kits. A total of 20,021 infants were screened, and seven cases with congenital hypothyroidism were detected, giving an incidence of congenital hypothyroidism of 1:2860 (female:male ratio 6:1). In four of seven infants with congenital hypothyroidism (57%) the mother also had thyroid disease, supporting the importance of genetic factors as a cause of congenital hypothyroidism. Transient hyperthyrotropinaemia occurred in 654 infants (recall rate 3.3%). There was a significant association of transient hyperthyrotropinaemia only with cardiac failure at birth or caesarean section (p < 0.01). Family studies showed no predisposition to thyroid diseases associated with a transient increase of TSH.
Subject(s)
Congenital Hypothyroidism , Hypothyroidism/diagnosis , Neonatal Screening , Estonia/epidemiology , Female , Humans , Hypothyroidism/epidemiology , Infant, Newborn , Male , Thyroid Hormones/analysisABSTRACT
A girl with a new de novo translocation of 4q onto the short arm of acrocentric 22 is reported as a case of "pure" partial trisomy 4q. Her karyotype was 46, XX,-22, +mar, t(4;22)(q25-->qter;p11) identified by Giemsa staining and FISH. Comparison of the proband with previously reported cases of "pure" partial trisomy 4q showed the main clinical features to be growth retardation, psychomotor retardation, microcephaly, large, low set, malformed ears, prominent nasal bridge, ptosis and epicanthus.
Subject(s)
Chromosomes, Human, Pair 22 , Chromosomes, Human, Pair 4 , Translocation, Genetic , Trisomy , Chromosome Mapping , Female , Humans , Infant , KaryotypingSubject(s)
Sex Chromosome Aberrations/genetics , X Chromosome , Adult , Child , Estonia , Face/abnormalities , Hand Deformities, Congenital/genetics , Humans , Male , Scrotum/abnormalities , SyndromeSubject(s)
Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 14 , Trisomy , Chromosome Banding , Female , Humans , InfantABSTRACT
A new case of "free" trisomy for the short arm of No. 9 chromosome identified by Giemsa staining and "Giemsa-11 technique" is reported.
