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Congenital adrenal hyperplasia : lessons from a multinational studyFrisch, Herwig ...A study group of paediatric endocrinologists was established in Austria, CzechRepublic, Hungary, Slovenia and Slovakia in order to investigate various aspects in children with congenital adrenal ... hyperplasia (CAH). Five hundred and ninety-eight patients with CAH who were diagnosed between 1969 and 1998 were included in order to analyze the following questions. Epidemiological data: There were significantly fewer males (43%) than females (57%), and the percentage of males did not increase during the observation period. Salt wasters (SW) totalled 64.7%, whereas 35.3% had simple virilizing (SV) CAH. Diagnosis was established significantly later in boys than in girls (median of26 vs. 13 days for SW, p < 0.0001; 1,817 vs. 1,010 days for SV, p < 0.031. Mortality in the general population was significantly lower than in CAH siblings (1.8% vs. 7.0%, p < 0.0001) or in SW chil dren (2.2% vs. 11.3%, p < 0.0001). According to our calculation with the present clinical diagnostic criteria in Central Europe, from 40 expected CAH patients/year, 2-2.5 SW, and one female and four male SV patients will not be diagnosed. Auxological data: Growth data from 341 patients were analyzed retrospectively. Percentiles were constructed in a longitudinal/cross-sectional study and pubertal growth was described in a longitudinal analysis. Growth of SW patients was impaired in early childhood (0-3 years), but followed a normal course until puberty. In contrast, SV children had a normal growth pattern during early childhood, but were above the standard thereafter. The pubertal growth spurt was of normal magnitude in boys and girls, but started too early. Final height was reduced compared with both standard and target heights. There was no correlation between final height and age of starting treatment or the year of birth. Bone age was accelerated in both CAH types, but more so in SV patients. (Abstract truncated at 2000 characters).Vir: Hormone research. - ISSN 0301-0163 (Letn. 57, suppl. 2, 2002, str. 95-101)Vrsta gradiva - članek, sestavni delLeto - 2002Jezik - angleškiCOBISS.SI-ID - 16874201
Avtor
Frisch, Herwig |
Kržišnik, Ciril, 1944-2024 |
Battelino, Tadej
Teme
Adrenal Hyperplasia, Congenital |
Physiopathology |
Genetics |
Epidemiology |
Growth |
Adolescence |
Adult |
Child |
Sex Factors |
Retrospective Studies |
Puberty |
Polymerase Chain Reaction |
Mutation |
Body Height |
Cohort Studies |
Europe |
Nadledvična žleza, hiperplazija prirojena |
Rast |
Adolescenca |
Evropa |
Kohortne študije |
Mutacija |
Odrasli |
Otrok |
Polimerazna, verižna reakcija |
Puberteta |
Retrospektivne študije |
Spolni faktorji |
Telesna višina
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Frisch, Herwig | ![]() |
Kržišnik, Ciril, 1944-2024 | 02278 |
Battelino, Tadej | 13023 |
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