Monogenic and polygenic models detected in steroid 21-hydroxylase deficiency-related paediatric hyperandrogenism

Hormone Research

Volumn 71, Issue 1, 2009, Pages 28-37

  Ezquieta, B ^a   Oyarzabal, M ^b   Barrio, R ^c   Luzuriaga, C ^d   Hermoso, F ^e   Lechuga, J L ^f   Quinteiro, S ^g   Rodriguez A ^a   Labarta, J I ^h   Gutierrez MacIas, A ⁱ   Gallego, M ^j   Bellon J M ^a  

^a HOSPITAL GENERAL UNIVERSITARIO GREGORIO MARAÑÓN   (Spain)

^b Universidad Pública de Navarra   (Spain)

^c HOSPITAL RAMÓN Y CAJAL   (Spain)

^d HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^e HOSPITAL CLÍNICO UNIVERSITARIO DE VALLADOLID   (Spain)

^f HOSPITAL UNIVERSITARIO PUERTA DEL MAR   (Spain)

^g HOSPITAL UNIVERSITARIO INSULAR DE GRAN CANARIA   (Spain)

^h HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

ⁱ HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^j HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

more..

Author keywords

CAPN10 UCSNP44 and TNFR2 M196R single nucleotide polymorphisms (SNPs); Nonclassical 21 hydroxylase deficiency; Polygenic and monogenic hyperandrogenism; Primer extension analysis; Protective and sensitizing factors

Indexed keywords

ARYLDIALKYLPHOSPHATASE 1; CALPAIN 10; CYTOCHROME P450 ISOENZYME; CYTOCHROMEPP450 21A2; HYDROXYPROGESTERONE; INSULIN RECEPTOR SUBSTRATE 1; SOMATOMEDIN B; TUMOR NECROSIS FACTOR RECEPTOR 2; UNCLASSIFIED DRUG;

ADRENAL DISEASE; ARTICLE; CHILD; CHILDHOOD DISEASE; CLINICAL FEATURE; CONTROLLED STUDY; FACTUAL DATABASE; FAMILY; FEMALE; GENE DELETION; GENE FREQUENCY; GENE INSERTION; GENETIC MODEL; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HYPERANDROGENISM; INFANT; MAJOR CLINICAL STUDY; MALE; MONOGENIC DISORDER; MULTIFACTORIAL INHERITANCE; POINT MUTATION; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SINGLE NUCLEOTIDE POLYMORPHISM; STEROID 21 MONOOXYGENASE DEFICIENCY;

ADRENAL HYPERPLASIA, CONGENITAL; ALLELES; ARYLDIALKYLPHOSPHATASE; CALPAIN; CHILD; CHILD, PRESCHOOL; DNA; FEMALE; HUMANS; HYPERANDROGENISM; INFANT; INSULIN RECEPTOR SUBSTRATE PROTEINS; INSULIN-LIKE GROWTH FACTOR II; MALE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, TUMOR NECROSIS FACTOR, TYPE II; STEROID 21-HYDROXYLASE;

EID: 56749095532     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000173739     Document Type: Article

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