Compensatory growth after HLA-typing revelation of incorrect diagnosis of 21-hydroxylase deficiency

1986 ◽  
Vol 113 (4_Suppl) ◽  
pp. S290-S294
Author(s):  
Edna H. Sobel ◽  
Sue Y.E. Hahm
Keyword(s):  
Replacement Therapy ◽  
Compensatory Growth ◽  
Clinical Evidence ◽  
Hla Typing ◽  
Adrenocortical Function ◽  
Carrier Status ◽  
Hydroxylase Deficiency ◽  
Incorrect Diagnosis ◽  
21 Hydroxylase Deficiency ◽  
First Time

Abstract A 9 1/2 year old boy had been treated for complete 21-hydroxylase deficiency from infancy. That diagnosis was excluded by HLA-typing of family members who wished to know their carrier status. Withdrawal of replacement therapy was very well tolerated. The patient showed distinct compensatory growth and for the first time was free of crises of adrenal insufficiency. This instance demonstrates an unexpected application of HLA-typing. It also shows that an amount of hydrocortisone too small to give any clinical evidence of overdose can impede growth. Furthermore, it provides reassurance that adrenocortical function can recover completely after many years of treatment with exogenous steroids.

scholarly journals Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status

1999 ◽  
pp. 132-139 ◽  
Author(s):  
V Dolzan ◽  
J Prezelj ◽  
B Vidan-Jeras ◽  
K Breskvar
Keyword(s):  
Molecular Analysis ◽  
Gene Mutations ◽  
Hla Typing ◽  
Carrier Status ◽  
Acth Stimulation ◽  
Adrenal Androgen ◽  
Hydroxylase Deficiency ◽  
Predictive Values ◽  
Cyp21 Gene ◽  
21 Hydroxylase Deficiency

OBJECTIVE: To study the incidence of 21-hydroxylase deficiency in Slovenian hyperandrogenic women, at the gene level. Previous endocrine studies indicated large differences in the incidence of 21-hydroxylase deficiency in hyperandrogenic women. The predictive values of the 17-hydroxyprogesterone (17-OHP) response to ACTH stimulation and of HLA typing in screening for carrier status were re-evaluated. DESIGN: Molecular analysis of CYP21 gene, ACTH stimulation and human leucocyte antigen (HLA) typing were performed in 83 consecutive Slovenian hyperandrogenic women. MEASUREMENTS: Cortisol and 17-OHP concentrations were measured at baseline and 60 min after ACTH stimulation. Basal adrenal androgen concentrations were also measured. RESULTS: None of 83 hyperandrogenic patients was affected with non-classical 21-hydroxylase deficiency, but 12 of 81 patients (14.8%) had high concentrations of 17-OHP after stimulation, indicative of carrier status. The increase in 17-OHP concentrations could be explained by a carrier status for CYP21 gene mutations in only three of 12 patients (25%), whereas seven of 69 patients (10. 1%) with normal concentrations of 17-OHP after stimulation were found to be carriers of CYP21 gene mutations, indicating low positive predictive values of ACTH stimulation as a screening test for carriers of 21-hydroxylase deficiency. In total, 11 carriers were identified among 83 patients: seven CYP21 gene deletions/conversions, two Gln(318)Stop and one Val(281)Leu mutation and one gene conversion extending from exon 4 to exon 7 were found. The association between Val(281)Leu mutation and HLA-B14 antigen was confirmed in this Slovenian population. CONCLUSIONS: Basal or ACTH-stimulated 17-OHP concentrations are not a good indicator of the carrier status for 21-hydroxylase deficiency among Slovenian hyperandrogenic patients. Reliable screening for carriers of 21-hydroxylase deficiency is possible only by molecular analysis of the CYP21 gene.

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 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.

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