Novel insertion frameshift mutation of the LH receptor gene: Problematic clinical distinction of Leydig cell hypoplasia from enzyme defects primarily affecting testosterone biosynthesis

European Journal of Endocrinology

Volumn 152, Issue 2, 2005, Pages 255-259

  Richter Unruh, Annette ^e   Korsch, E ^a   Hiort, O ^b   Holterhus, P M ^b   Themmen, A P ^c   Wudy, S A ^d  

^a UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^b UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d JUSTUS LIEBIG UNIVERSITY   (Germany)

^e UNIVERSITY OF DUISBURG ESSEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ANDROSTENEDIONE; HYDROXYSTEROID DEHYDROGENASE; LUTEINIZING HORMONE RECEPTOR; NUCLEOTIDE; TESTOSTERONE;

ANDROGEN SYNTHESIS; ANDROSTENEDIONE BLOOD LEVEL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CODON; DIFFERENTIAL DIAGNOSIS; DNA DETERMINATION; ENZYME DEFECT; ENZYME DEFICIENCY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE INSERTION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; HOMOZYGOSITY; HUMAN; HYPOPLASIA; KARYOTYPE 46,XY; LEYDIG CELL; MALE GENITAL SYSTEM; MOLECULAR GENETICS; NEWBORN; OPEN READING FRAME; PREDICTION; PRIORITY JOURNAL; RECEPTOR GENE; RNA TRANSLATION; TESTOSTERONE BLOOD LEVEL; TESTOSTERONE SYNTHESIS;

AMINO ACID SEQUENCE; FEMALE; FRAMESHIFT MUTATION; HUMANS; INFANT, NEWBORN; LEYDIG CELLS; MALE; MOLECULAR SEQUENCE DATA; PSEUDOHERMAPHRODITISM; RECEPTORS, LH; TESTOSTERONE; UROGENITAL ABNORMALITIES;

EID: 14644427225     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/eje.1.01852     Document Type: Article

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