Sexual pseudo-precocity caused by a somatic activating mutation of the LH receptor preceding true sexual precocity

Hormone Research

Volumn 70, Issue 4, 2008, Pages 249-253

  Kiepe, Daniela ^a   Richter Unruh, Annette ^b   Autschbach, Frank ^c   Kessler, Markus ^a   Schenk, Jens Peter ^a   Bettendorf, Markus ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b Endokrinologikum Ruhr   (Germany)

^c Institute of Pathology   (Germany)

Author keywords

Activating mutation; GnRH dependent sexual precocity; Leydig cell hyperplasia; LH receptor; Precocious puberty

Indexed keywords

GENOMIC DNA; GONADORELIN AGONIST; LEUPRORELIN; LUTEINIZING HORMONE RECEPTOR; TESTOSTERONE;

ANTHROPOMETRIC PARAMETERS; ARTICLE; BONE AGE; CASE REPORT; CHILD; CLINICAL EXAMINATION; DNA EXTRACTION; EXON; FOLLOW UP; GENE ACTIVATION; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; LEUKOCYTE; LEYDIG CELL TUMOR; LUTEINIZING HORMONE RECEPTOR GENE; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; ORCHIECTOMY; PHYSICAL EXAMINATION; PRECOCIOUS PUBERTY; PRIORITY JOURNAL; RECEPTOR GENE; TESTIS; TESTOSTERONE BLOOD LEVEL; TREATMENT DURATION; ULTRASOUND;

AMINO ACID SUBSTITUTION; CHILD; EXONS; GONADOTROPIN-RELEASING HORMONE; HETEROZYGOTE; HUMANS; LEYDIG CELL TUMOR; MALE; MUTATION, MISSENSE; NEOPLASM PROTEINS; PUBERTY, PRECOCIOUS; RECEPTORS, LH; TESTICULAR NEOPLASMS;

EID: 50849099478     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000151598     Document Type: Article

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