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Pasqualini, T.; Alonso, G.; Tomasini, R.; Galich, A.M.; Buzzalino, N.; Fernandez, C.; Minutolo, C.; Alba, L.; Dain, L. "Congenital adrenal hyperplasia. Clinical characteristics and genotype in newborn, childhood and adolescence " (2007) Medicina. 67(3):253-261
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Abstract:

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.

Registro:

Documento: Artículo
Título:Congenital adrenal hyperplasia. Clinical characteristics and genotype in newborn, childhood and adolescence
Autor:Pasqualini, T.; Alonso, G.; Tomasini, R.; Galich, A.M.; Buzzalino, N.; Fernandez, C.; Minutolo, C.; Alba, L.; Dain, L.
Filiación:Sección de Endocrinología, Crecimiento y Desarrollo, Departamento de Pediatría, Universidad de Buenos Aires, Buenos Aires, Argentina
Servicio de Endocrinología y Medicina Nuclear, Hospital Italiano, Universidad de Buenos Aires, Buenos Aires, Argentina
Centro Nacional de Genética Médica, A.N.L.I.S. Dr. Carlos G. Malbrán, Universidad de Buenos Aires, Buenos Aires, Argentina
Instituto de Biología y Medicina Experimental, Universidad de Buenos Aires, Buenos Aires, Argentina
Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Buenos Aires, Argentina
Mendoza 3479, 1430 Buenos Aires, Argentina
Palabras clave: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
Año:2007
Volumen:67
Número:3
Página de inicio:253
Página de fin:261
Título revista:Medicina
Título revista abreviado:Medicina (Argentina)
ISSN:00257680
CODEN:MEDCA
CAS:corticotropin, 11136-52-0, 9002-60-2, 9061-27-2; dexamethasone, 50-02-2; fludrocortisone, 127-31-1; hydrocortisone, 50-23-7; hydroxyprogesterone, 68-96-2; methylprednisolone, 6923-42-8, 83-43-2; steroid 21 monooxygenase, 9029-68-9; Steroid 21-Hydroxylase, 1.14.99.10
Registro:https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00257680_v67_n3_p253_Pasqualini

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Citas:

---------- APA ----------
Pasqualini, T., Alonso, G., Tomasini, R., Galich, A.M., Buzzalino, N., Fernandez, C., Minutolo, C.,..., Dain, L. (2007) . Congenital adrenal hyperplasia. Clinical characteristics and genotype in newborn, childhood and adolescence . Medicina, 67(3), 253-261.
Recuperado de https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00257680_v67_n3_p253_Pasqualini [ ]
---------- CHICAGO ----------
Pasqualini, T., Alonso, G., Tomasini, R., Galich, A.M., Buzzalino, N., Fernandez, C., et al. "Congenital adrenal hyperplasia. Clinical characteristics and genotype in newborn, childhood and adolescence " . Medicina 67, no. 3 (2007) : 253-261.
Recuperado de https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00257680_v67_n3_p253_Pasqualini [ ]
---------- MLA ----------
Pasqualini, T., Alonso, G., Tomasini, R., Galich, A.M., Buzzalino, N., Fernandez, C., et al. "Congenital adrenal hyperplasia. Clinical characteristics and genotype in newborn, childhood and adolescence " . Medicina, vol. 67, no. 3, 2007, pp. 253-261.
Recuperado de https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00257680_v67_n3_p253_Pasqualini [ ]
---------- VANCOUVER ----------
Pasqualini, T., Alonso, G., Tomasini, R., Galich, A.M., Buzzalino, N., Fernandez, C., et al. Congenital adrenal hyperplasia. Clinical characteristics and genotype in newborn, childhood and adolescence . Medicina (Argentina). 2007;67(3):253-261.
Available from: https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00257680_v67_n3_p253_Pasqualini [ ]