Leydig cell hypoplasia due to inactivating luteinizing hormone/chorionic gonadotropin receptor gene mutation presenting as a 46,XY DSD

Advances in Experimental Medicine and Biology

Volumn 707, Issue , 2011, Pages 147-148

  Sinha, Sunil K ^b   Bhangoo, Amrit ^b   Ten, Svetlana ^a   Gromoll, Joerg ^b  

^a SUNY DOWNSTATE MEDICAL CENTER   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

CHORIONIC GONADOTROPIN RECEPTOR; FOLLITROPIN; LUTEINIZING HORMONE; LUTEINIZING HORMONE RECEPTOR;

ALLELE; ARTICLE; CAUCASIAN; CHILD; CHORIONIC GONADOTROPIN RECEPTOR GENE; CLINICAL ARTICLE; CONSANGUINITY; EXON; FEMALE; FEMALE FERTILITY; FOLLITROPIN BLOOD LEVEL; GENE; GENE INSERTION; GENE MUTATION; GENETIC POLYMORPHISM; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPOPLASIA; IN FRAME INSERTION; LEYDIG CELL; LEYDIG CELL HYPOPLASIA; LUTEINIZING HORMONE BLOOD LEVEL; LUTEINIZING HORMONE GENE; MALE FERTILITY; PARENT; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SEX DIFFERENTIATION DISORDER; SIBLING; VIRILIZATION;

46, XY DISORDERS OF SEX DEVELOPMENT; HUMANS; LEYDIG CELLS; MALE; MUTATION; RECEPTORS, LH;

EID: 79960744488     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4419-8002-1_32     Document Type: Article

References (3)

1. Richter-Unruh A, Martens JW et al (2002) Leydig cell hypoplasia: Cases with new mutations, new polymorphisms and cases without mutations in the luteinizing hormone receptor gene. Clin Endocrinol (Oxf) 56:103-112. (Pubitemid 34107327)
2. McFarland KC, Sprengel R et al (1989) Lutropin-choriogonadotropin receptor: An unusual member of the G protein-coupled receptor family. Science 245:494-499. (Pubitemid 19203999)
3. Wu SM, Hallermeier KM et al (1998) Inactivation of the luteinizing hormone/chorionic gonadotropin receptor by an insertional mutation in Leydig cell hypoplasia. Mol Endocrinol 12:1651-1660. (Pubitemid 28492442)