Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Luxenberger, K.
Congenital adrenal hyperplasia - Diagnosis, treatment, course of disease in Styrian patients born between 1992 and 2011
[ Diplomarbeit ] Medical University of Graz; 2013. pp. 71
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- Autor*innen der Med Uni Graz:
- Betreuer*innen:
- Borkenstein Helmuth Martin
- Fröhlich-Reiterer Elke
- Altmetrics:
- Abstract:
- Congenital adrenal hyperplasia (CAH) is an autosomal-recessive enzyme disorder of cortisol synthesis within the adrenal gland. The disorder results in elevated androgen levels and can also include decreased aldosterone levels. 21-hydroxylase deficiency is responsible for more than 90% of cases. There is a classic salt-wasting form and a classic simple-virilising form, as well as a non-classic late-onset form and an asymptomatic form. The incidence of classic CAH is approximately 1:12.000 and carrier frequency is 1:60 in Caucasians. Symptoms include ambiguous external genitalia and virilisation in girls, as well as precocious puberty, short stature and infertility in both sexes. Salt-wasting may be a life-threatening condition in infants. Since 2001, CAH is included in the Austrian newborn screening based on the measurement of 17¿-hydroxyprogesterone. We collected data of 18 affected children born between 1992 and 2011 in Styria. We put our emphasis on weight, height and bone age, as well as time of and reason for diagnosis. Moreover, we compared the prevalence of CAH before and after introduction of screening. There were twelve girls and six boys diagnosed with CAH in Styria from 1992 to 2011. In group A (patients not screened), CAH was diagnosed in six children (m 3; f 3); four with salt wasting (SW) 21-OH deficiency (m 2; f 2) and two with simple virilising (SV) 21-OH deficiency (m 1; f 1). Calculated prevalence of CAH was 1:19.833 in this group. In group B, CAH was diagnosed in twelve children (m 3; f 9). Eight of them were diagnosed with SW 21-OH deficiency (m 2; f 6), two with SV 21-OH deficiency (m 0; f 2) and two with 11ß-hydroxylase deficiency (m 1; f 1). Prevalence of 21-hydroxylase deficiency in total was 1:10.322, prevalence of SW 21-hydroxylase deficiency was 1:12.903, and prevalence of 11ß-hydroxylase deficiency was 1:51.614. The gender ratio in group A was 1:1, whereas it was 2:1 in group B. Diagnosis in girls was made due to ambiguous external genital in the first instance and due to growth abnormalities and precocious puberty in boys before screening. Since screening has been introduced, boys have been diagnosed and treated earlier. To evaluate height and weight, triennial data were collected. In not-screened boys, height SDS was -0,77 ± 4,14 and weight SDS -1,34 ± 2,82. In screened boys, it was -1,32 ± 5,64 respectively -1,57 ± 3,22. In not-screened girls, height SDS was -0,57 ± 2,45 and weight SDS +0,08 ± 1,87. In screened girls, it was -2,22 ± 1,21 respectively -2,75 ± 1,85. Bone age was accelerated in six out of eleven tested female patients and in four out of five tested male patients. Deviation of bone age from chronologic age was higher in boys, with levels between +3,25 years and +6,36 years on average, whereas it was +0,2 to +3,7 years in girls on average. Newborn screening for CAH is efficient for diagnosis and increases the rate of detection of CAH. Screening apparently has greatest benefit for boys. Height and weight outcome as well as bone age are still not optimal in congenital adrenal hyperplasia, even though adequate and consequent therapy seems to improve the outcome. ¿