Prevalence of Minor Congenital Anomalies in Diabetic Children

Abstract

With the discovery of hpGRF and hCRF pituitary function can be assessed by the use of four physiologic releasing hormones. After a rest of two hours to reach basal cortisol levels, healthy young male volunteers received a bolus of the following releasing hormones: 1) GRF (100 119) + CRF (50 09) + TRH ( 2 W pg) + LIWI (1Wug) 2) GRF + TRH 3) CRF + TRH 4) LHRH + TRH 5) each releasing hormone alone (n=5 in each group). During the following two hours, GH, ACTH, cortisol, TSH, LH, FSH and prolactin were measured every fifteen minutes. The combination of the four releasing hormones resulted in a rapid rise of all measured hormones with the following peak values:GH: 20,6 + 3.8 ng/ml, ACTH: 81 + 7 pg/ml, cortisol: 112 + 8 ng/ml, TSH: 17.6-2 2.2 uU/ml, LH: 143 Z 25 ng/ml, FSH: 582 2 132 ng/ml and prolactin: 39 2 7 ng/ml (x + SEM). The peak level of TSH in the combined test was nearly twice the level in single TRH-tests (TSH max: 10,2 + 1,3 uU/ml, Students' t-test, p < 0.05). Exaggerated TSH-response to TRH was shown to be entirely due to additional GRF administration, CRF in combination with TRH had no additional effect on TSH release. For all other measured hormones we found no significant differences between application of a single releasing hormone and the combinations studied (analysis of variance). We conclude that: 1) The combined injection of four releasing hormones provides a valuable test for anterior pituitary function. As there are practically no side effects, application in children is favored. Szombathely, HungaryT h e prevalence of 52 congenital minor anomalies /MCAs/ was determined i n 111 children with insulin dependent diabetes mellitus /IDDEl/, and in 111 healthy matched control subjects. T h e average MCA per person was 1.60 i n diabetic children and 0,86 i n the controls /p<o,ool/ T h e difference wes exclusively due to the significantly higher proportion of subjects with 3 o r more MCAs in the diabetic group /27,0 versus 9,s per cent, p<o,ool/.Malformation type minor anomalies /"mild malformetions"/ minor dysplasias, deformations, and phenogenetic variants almost equally contributed to the higher prevalence of MCAs i n the patients. N o specific MCA characteristic of IDDM w a s found. 47RING CHROMOSOME WITH NO MALFORMATION BUT EXTREME SOMATIC RETARDATION:"RING SYNDROME"? A REVIEW OF 206 CASE REPORTS G. Kosztolinyi, Dept.Ped.Med.Univ.PQcs,Hungary Many patients with ring autosomes who had no organic malformation and no or only a few nonspecific dysmorphic stigmata, showed extreme somatic retardation (eSR) the cause of which is not fully understood. Motivated by 4 own patients, the author analysed 206 reports out of about 300 cases with ring autosome known in the literature in order to shed some light upon this phenotype ("ring syndrome"). Cases with no detectable loss of chromosomal material were included only. eSR was defined as height > 3 SD below the mean. Statistics were done by x2test. -Out of 206-cases, 114 had no organic malformation, no specific deletion syndrome and no or only a few nonspecif...

Phenotypic abnormalities: Terminology and classification

“…In the past three decades, numerous studies reported the incidence of minor physical anomalies in a variety of disorders: diabetes [Méhes et al, 1986], metabolic diseases [Méhes, 1991], isolated urinary tract malformations [Méhes and Pinter, 1990], mental retardation [Smith and Bostian, 1964; Firestone et al, 1978; Meggyessy et al, 1980; Van Karnebeek et al, 2002a], cerebral palsy [Miller, 1989; Coorssen et al, 1991], hyperactivity [Waldrop and Goering, 1971; Quinn and Rapoport, 1974; Firestone et al, 1978], autism [Links et al, 1980; Accardo et al, 1991; Miles and Hillman, 2000; Van Karnebeek et al, 2002b], and schizophrenia and mood disorders [Gualtieri et al, 1982; Guy et al, 1983; Green et al, 1989, 1994a,b; Lohr and Flynn, 1993; Alexander et al, 1994; O'Callaghan et al, 1995; Lane et al, 1997; Trixler et al, 1997; Griffiths et al, 1998; Ismail et al, 1998, 2000; Lawrie et al, 2001; Trixler et al, 2001; Scutt et al, 2001; McGrath et al, 2002]. A few studies deserve more attention here.…”

Normal values for morphological abnormalities in school children

“…The incidence of minor physical anomalies has also been studied in search of relationships between various non‐syndromic disorders and abnormal embryogenesis or phenogenesis. Well‐known examples are the studies in childhood cancer [Kobayashi et al, 1968; Stojimirovic, 1981; Méhes et al, 1985, 1994, 1998; Fékété et al, 1987; Roganovic et al, 2002; Merks et al, 2003], diabetes mellitus [Méhes et al, 1986], metabolic disorders [Méhes, 1991], isolated urinary tract malformations [Méhes and Pinter, 1990], mental retardation [Smith and Bostian, 1964; Firestone et al, 1978; Meggyessy et al, 1980; Coorssen et al, 1991; Ulovec et al, 2004; Van Karnebeek et al, 2005], cerebral palsy [Miller, 1989], hyperactivity [Waldrop et al, 1968, 1978; Waldrop and Goering, 1971; Quinn and Rapoport, 1974; Walker, 1977; Campbell et al, 1978; Firestone et al, 1978; Burg et al, 1980; Links, 1980; Links et al, 1980; Simonds and Aston, 1981; Gualtieri et al, 1982; Vanoverloop et al, 1982; Fogel et al, 1985; Accardo et al, 1991], autism [Steg and Rapoport, 1975; Rodier et al, 1997; Miles and Hillman, 2000; Van Karnebeek et al, 2002], and other psychiatric disorders [Steg and Rapoport, 1975; Guy et al, 1983; Green et al, 1987, 1989, 1994a,b; O'Callaghan et al, 1991, 1995; McNeil et al, 1992; Lohr and Flynn, 1993; Alexander et al, 1994; McGrath et al, 1995, 2002; Lane et al, 1997; Lohr et al, 1997; Trixler et al, 1997, 2001; Akabaliev and Sivkov, 1998; Griffiths et al, 1998; Ismail et al, 1998, 2000; Weinstein et al, 1999; Akabaliev et al, 2001; Lawrie et al, 2001; Scutt et al, 2001; Schiffman et al, 2002; Elizarraras‐Rivas et al,…”

Dysmorphic features and developmental outcome of 2‐year‐old children

“…Dysmorphic features not only are found in children with well‐defined clinical syndromes, but also often occur in the general population . They are related to an increased incidence of cancer, diabetes mellitus, autism, and schizophrenia . These associations indicate that dysmorphic features may be used as indicators of abnormal embryonic differentiation …”