Diagnosis, treatment and preventive measures in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in patients in adulthood

2016 ◽  
Vol 3 (1) ◽  
pp. 26-32
Author(s):  
Natalya V. Molashenko ◽  
A. I Sazonova ◽  
E. A Troshina
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Replacement Therapy ◽  
Diagnostic Tests ◽  
Preventive Measures ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

In the article there are presented main approaches to the diagnosis, treatment and follow-up of patients with classical and nonclassical forms of 21-hydroxylase deficiency. The techniques of diagnostic tests and parameters of hormonal indices for the assessment of the adequacy of replacement therapy with glucocorticoids and mineralocorticoids are considered.

scholarly journals Concurrence of Meningomyelocele and Salt-Wasting Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Heves Kırmızıbekmez ◽  
Rahime Gül Yesiltepe Mutlu ◽  
Serdar Moralıoğlu ◽  
Ahmet Tellioğlu ◽  
Ayşenur Cerrah Celayir
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Growth Retardation ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Salt Wasting ◽  
Significant Regression ◽  
One Year ◽  
The One ◽  
21 Hydroxylase Deficiency

Congenital adrenal hyperplasia (CAH) is a group of inherited defects of cortisol biosynthesis. A case of classical CAH due to 21-hydroxylase deficiency (21-OHD) with early onset of salt waste and concurrence of meningomyelocele (MMC) was presented here. The management of salt-wasting crisis which is complicated by a postrenal dysfunction due to neurogenic bladder was described. Possible reasons of growth retardation in the one-year follow-up period were discussed. A significant regression of the phallus with proper medical treatment was also mentioned.

scholarly journals International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia - data from the I-CAH registry.

2021 ◽  
Author(s):  
Irina Bacila ◽  
Nicole Freeman ◽  
Eleni Daniel ◽  
Marija Sandrk ◽  
Jillian Bryce ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Replacement Therapy ◽  
Hormone Replacement ◽  
Age Groups ◽  
Temporal Variations ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
High Doses ◽  
Multi Center Study ◽  
21 Hydroxylase Deficiency

Objective: Despite published guidelines no unified approach to hormone replacement in congenital adrenal hyperplasia (CAH) exists. We aimed to explore geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids in CAH. Design: This retrospective multi-center study, including 31 centers (16 countries), analyzed data from the International-CAH Registry. Methods: Data was collected from 461 patients aged 0-18 years with classic 21-hydroxylase deficiency (54.9% females) under follow-up between 1982 – 2018. Type, dose and timing of glucocorticoid and mineralocorticoid replacement was analyzed from 4174 patient visits. Results: The most frequently used glucocorticoid was hydrocortisone (87.6%). Overall, there were significant differences between age groups with regards to daily hydrocortisone-equivalent dose for body surface, with the lowest dose (median with interquartile range) of 12.0 (10.0 – 14.5) mg/ m2/ day at age 1 - 8 years and the highest dose of 14.0 (11.6 - 17.4) mg/ m2/ day at age 12-18 years. Glucocorticoid doses decreased after 2010 in patients 0-8 years (p<0.001) and remained unchanged in patients aged 8-18 years. Fludrocortisone was used in 92% of patients, with relative doses decreasing with age. A wide variation was observed among countries with regards to all aspects of steroid hormone replacement. Conclusions: Data from the I-CAH Registry suggests international variations in hormone replacement therapy, with a tendency to treatment with high doses in children.

scholarly journals Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

2020 ◽  
Vol 6 (3) ◽  
pp. 71 ◽  
Author(s):  
Rolf H. Zetterström ◽  
Leif Karlsson ◽  
Henrik Falhammar ◽  
Svetlana Lajic ◽  
Anna Nordenström
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Screening Program ◽  
Adrenal Hyperplasia ◽  
Older Children ◽  
Hydroxylase Deficiency ◽  
Term Infants ◽  
Salt Wasting ◽  
Classic Cah ◽  
21 Hydroxylase Deficiency

Congenital adrenal hyperplasia (CAH) was the fourth disorder added to the national Swedish neonatal screening program in 1986, and approximately 115,000 newborns are screened annually. Dried blood spot (DBS) screening with measurement of 17-hydroxyprogesterone (17OHP) is also offered to older children moving to Sweden from countries lacking a national DBS screening program. Here, we report an update on the CAH screening from January 2011 until December 2019. Results: During the study period, 1,030,409 newborns and 34,713 older children were screened. In total, 87 newborns were verified to have CAH, which gives an overall positive predictive value (PPV) of 11% and 21% for term infants. Including the five missed CAH cases identified during this period, this gives an incidence of 1:11,200 of CAH in Sweden. Among the older children, 12 of 14 recalled cases were found to be true positive for CAH. All patients were genotyped as part of the clinical follow-up and 70% of the newborns had salt wasting (SW) CAH and 92% had classic CAH (i.e., SW and simple virilizing (SV) CAH). In the group of 12 older children, none had SW CAH and two had SV CAH. Conclusion: The incidence of classic CAH is relatively high in Sweden. Early genetic confirmation with CYP21A2 genotyping has been a valuable complement to the analysis of 17OHP to predict disease severity, make treatment decisions and for the follow-up and evaluation of the screening program.

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