Abstract:
:This paper reports the case of an infant presenting with sexual ambiguity at birth. The child presented with labia majora synechia, thready genital tubercle and perineal hypospadias. The karyotype was 46,XY. Low testosterone levels with no response to hCG administration, associated with high LH level for her age, high FSH level, high inhibin B levels and normal AMH indicated a lack of LH receptivity and prompted us to screen the LHCGR gene for mutations. A previously described missense mutation (p.Cys131Arg) was identified at homozygous state in the propositus and at heterozygous state in the mother. This variation, however, was not found in the father. Our attention was drawn by the presence of several single nucleotide polymorphisms (SNPs), identified at homozygous state without any paternal contribution from exon 1 to exon 10 of LHCGR, suggesting a paternal deletion. Array DNA analysis was performed revealing a large deletion extending from 61,493 to 135,344 bp and including the LHCGR gene. Adequate genetic counselling was provided. This paper describes the first application of prenatal diagnosis in LHCGR deficiency for 46,XY disorders of sex development with the subsequent delivery of a normal baby.
journal_name
Endocr Jjournal_title
Endocrine journalauthors
Richard N,Leprince C,Gruchy N,Pigny P,Andrieux J,Mittre H,Manouvrier S,Lahlou N,Weill J,Kottler MLdoi
10.1507/endocrj.k11e-119subject
Has Abstractpub_date
2011-01-01 00:00:00pages
769-76issue
9eissn
0918-8959issn
1348-4540pii
JST.JSTAGE/endocrj/K11E-119journal_volume
58pub_type
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