Congenital adrenal hyperplasia. Clinical characteristics and genotype in newborn, childhood and adolescence
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a disorder which can adopt three clinical expressions: two classical forms - salt-wasting (SW), with residual enzymatic activity (EA) ≤1% and simple virilizing (SV), with EA 1-2%- and a mild late onset or nonclassical (NC) form...
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| Acceso en línea: | https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00257680_v67_n3_p253_Pasqualini http://hdl.handle.net/20.500.12110/paper_00257680_v67_n3_p253_Pasqualini |
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paper:paper_00257680_v67_n3_p253_Pasqualini2023-06-08T14:53:37Z Congenital adrenal hyperplasia. Clinical characteristics and genotype in newborn, childhood and adolescence Minutolo, Carolina Congenital adrenal hyperplasia Congenital adrenal hyperplasia clinical characteristics Congenital adrenal hyperplasia molecular genetics corticotropin dexamethasone fludrocortisone hydrocortisone hydroxyprogesterone methylprednisolone steroid 21 monooxygenase adolescent adult allele article body height bone mass child clinical article clinical feature congenital adrenal hyperplasia controlled study enzyme activity family study female follow up gene expression gene mutation genetic code genetic counseling genetic screening genotype heterozygote human low drug dose male mutational analysis newborn prediction puberty reference value sibling steroid 21 monooxygenase deficiency symptom Adolescent Adrenal Hyperplasia, Congenital Alleles Child Child, Preschool Female Follow-Up Studies Gene Conversion Genotype Humans Infant Infant, Newborn Male Mutation Phenotype Point Mutation Steroid 21-Hydroxylase Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a disorder which can adopt three clinical expressions: two classical forms - salt-wasting (SW), with residual enzymatic activity (EA) ≤1% and simple virilizing (SV), with EA 1-2%- and a mild late onset or nonclassical (NC) form, with EA 10-60%. Our objective is to describe clinical characteristics, growth, and bone mass in a group of patients affected by 21-hydroxylase deficiency. Besides, molecular genetics studies were performed in patients, and also when available in their parents and siblings. Nine patients with neonatal diagnosis and 8 with pre or postpubertal diagnosis were studied. Analyses of 10-point mutations in the CYP21A2 gene were performed. We found that all the patients with the classical expression, except one with a de novo mutation R356W in one allele, were fully genotyped with predictive <2% EA mutations. Signs of hyperandrogenism were present in 5/6 NC patients; one was diagnosed by searching for mutations in asymptomatic siblings. All the NC patients were compound heterozygotes carrying V281L mutation in one allele and a predictive low EA in the other, except for one not yet determined. In patients with neonatal diagnosis, mean height was low at one year of age, though it showed a significant increase before the onset of puberty. We conclude that neonatal diagnosis of classical CAH allows an adequate follow up enhancing growth. Molecular analyses of all members of an affected family may disclose asymptomatic patients. The presence of de novo mutations, as well as, the presence of mutations with low predicted EA in NC patients reinforces the importance of genotyping for appropriate genetic counseling. In fully genotyped NC patients, the lowest value of ACTH-stimulated 17OHP was 14 ng/ml. Lower cut-off values might overestimate the diagnosis of the NC form. Fil:Minutolo, C. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. 2007 https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00257680_v67_n3_p253_Pasqualini http://hdl.handle.net/20.500.12110/paper_00257680_v67_n3_p253_Pasqualini |
| institution |
Universidad de Buenos Aires |
| institution_str |
I-28 |
| repository_str |
R-134 |
| collection |
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) |
| topic |
Congenital adrenal hyperplasia Congenital adrenal hyperplasia clinical characteristics Congenital adrenal hyperplasia molecular genetics corticotropin dexamethasone fludrocortisone hydrocortisone hydroxyprogesterone methylprednisolone steroid 21 monooxygenase adolescent adult allele article body height bone mass child clinical article clinical feature congenital adrenal hyperplasia controlled study enzyme activity family study female follow up gene expression gene mutation genetic code genetic counseling genetic screening genotype heterozygote human low drug dose male mutational analysis newborn prediction puberty reference value sibling steroid 21 monooxygenase deficiency symptom Adolescent Adrenal Hyperplasia, Congenital Alleles Child Child, Preschool Female Follow-Up Studies Gene Conversion Genotype Humans Infant Infant, Newborn Male Mutation Phenotype Point Mutation Steroid 21-Hydroxylase |
| spellingShingle |
Congenital adrenal hyperplasia Congenital adrenal hyperplasia clinical characteristics Congenital adrenal hyperplasia molecular genetics corticotropin dexamethasone fludrocortisone hydrocortisone hydroxyprogesterone methylprednisolone steroid 21 monooxygenase adolescent adult allele article body height bone mass child clinical article clinical feature congenital adrenal hyperplasia controlled study enzyme activity family study female follow up gene expression gene mutation genetic code genetic counseling genetic screening genotype heterozygote human low drug dose male mutational analysis newborn prediction puberty reference value sibling steroid 21 monooxygenase deficiency symptom Adolescent Adrenal Hyperplasia, Congenital Alleles Child Child, Preschool Female Follow-Up Studies Gene Conversion Genotype Humans Infant Infant, Newborn Male Mutation Phenotype Point Mutation Steroid 21-Hydroxylase Minutolo, Carolina Congenital adrenal hyperplasia. Clinical characteristics and genotype in newborn, childhood and adolescence |
| topic_facet |
Congenital adrenal hyperplasia Congenital adrenal hyperplasia clinical characteristics Congenital adrenal hyperplasia molecular genetics corticotropin dexamethasone fludrocortisone hydrocortisone hydroxyprogesterone methylprednisolone steroid 21 monooxygenase adolescent adult allele article body height bone mass child clinical article clinical feature congenital adrenal hyperplasia controlled study enzyme activity family study female follow up gene expression gene mutation genetic code genetic counseling genetic screening genotype heterozygote human low drug dose male mutational analysis newborn prediction puberty reference value sibling steroid 21 monooxygenase deficiency symptom Adolescent Adrenal Hyperplasia, Congenital Alleles Child Child, Preschool Female Follow-Up Studies Gene Conversion Genotype Humans Infant Infant, Newborn Male Mutation Phenotype Point Mutation Steroid 21-Hydroxylase |
| description |
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a disorder which can adopt three clinical expressions: two classical forms - salt-wasting (SW), with residual enzymatic activity (EA) ≤1% and simple virilizing (SV), with EA 1-2%- and a mild late onset or nonclassical (NC) form, with EA 10-60%. Our objective is to describe clinical characteristics, growth, and bone mass in a group of patients affected by 21-hydroxylase deficiency. Besides, molecular genetics studies were performed in patients, and also when available in their parents and siblings. Nine patients with neonatal diagnosis and 8 with pre or postpubertal diagnosis were studied. Analyses of 10-point mutations in the CYP21A2 gene were performed. We found that all the patients with the classical expression, except one with a de novo mutation R356W in one allele, were fully genotyped with predictive <2% EA mutations. Signs of hyperandrogenism were present in 5/6 NC patients; one was diagnosed by searching for mutations in asymptomatic siblings. All the NC patients were compound heterozygotes carrying V281L mutation in one allele and a predictive low EA in the other, except for one not yet determined. In patients with neonatal diagnosis, mean height was low at one year of age, though it showed a significant increase before the onset of puberty. We conclude that neonatal diagnosis of classical CAH allows an adequate follow up enhancing growth. Molecular analyses of all members of an affected family may disclose asymptomatic patients. The presence of de novo mutations, as well as, the presence of mutations with low predicted EA in NC patients reinforces the importance of genotyping for appropriate genetic counseling. In fully genotyped NC patients, the lowest value of ACTH-stimulated 17OHP was 14 ng/ml. Lower cut-off values might overestimate the diagnosis of the NC form. |
| author |
Minutolo, Carolina |
| author_facet |
Minutolo, Carolina |
| author_sort |
Minutolo, Carolina |
| title |
Congenital adrenal hyperplasia. Clinical characteristics and genotype in newborn, childhood and adolescence |
| title_short |
Congenital adrenal hyperplasia. Clinical characteristics and genotype in newborn, childhood and adolescence |
| title_full |
Congenital adrenal hyperplasia. Clinical characteristics and genotype in newborn, childhood and adolescence |
| title_fullStr |
Congenital adrenal hyperplasia. Clinical characteristics and genotype in newborn, childhood and adolescence |
| title_full_unstemmed |
Congenital adrenal hyperplasia. Clinical characteristics and genotype in newborn, childhood and adolescence |
| title_sort |
congenital adrenal hyperplasia. clinical characteristics and genotype in newborn, childhood and adolescence |
| publishDate |
2007 |
| url |
https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00257680_v67_n3_p253_Pasqualini http://hdl.handle.net/20.500.12110/paper_00257680_v67_n3_p253_Pasqualini |
| work_keys_str_mv |
AT minutolocarolina congenitaladrenalhyperplasiaclinicalcharacteristicsandgenotypeinnewbornchildhoodandadolescence |
| _version_ |
1768544120910905344 |