A novel mutation in the anti-müllerian hormone gene as cause of persistent müllerian duct syndrome

European Journal of Pediatrics

Volumn 160, Issue 11, 2001, Pages 652-654

  Lang Muritano, Mariarosaria ^a   Biason Lauber, Anna ^a   Gitzelmann, Christopher ^a   Belville, Corinne ^b   Picard, Yves ^b   Schoenle, Eugen J ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b ECOLE NORMALE SUPÉRIEURE   (France)

Author keywords

Anti m llerian hormone; Cryptorchidism; Laparoscopic orchidopexy; Persistent m llerian duct syndrome

Indexed keywords

MUELLERIAN INHIBITING FACTOR;

ARTICLE; BASE PAIRING; CASE REPORT; CONTROLLED STUDY; CRYPTORCHISM; EXON; GENE DUPLICATION; GENE INSERTION; GENE MUTATION; GENETIC DISORDER; HOMOZYGOSITY; HORMONE ACTION; HORMONE BLOOD LEVEL; HORMONE SYNTHESIS; HUMAN; KARYOTYPE 46,XY; LAPAROSCOPY; MALE; MUELLERIAN DUCT; ORCHIDOPEXY; PRIORITY JOURNAL; PROTEIN STRUCTURE; SCHOOL CHILD; SERTOLI CELL; STOP CODON; STRUCTURE ACTIVITY RELATION; TESTIS FUNCTION; UTERINE TUBE; UTERUS;

EID: 0034764958     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310100840     Document Type: Article

References (11)

1. Serum levels of müllerian inhibiting substance in boys throughout puberty and in the first 2 years of life
2. The role of testicular vascular anatomy in the salvage of high undescended testes
3. Plasma gonadotrophin and testosterone values in infants with cryptorchidism
4. Anatomical and functional aspects of testicular descent and cryptorchidism
5. Molecular genetics of the persistent müllerian duct syndrome; a study of 19 families
6. Testicular degeneration in three patients with the persistent mullerian duct syndrome
7. A 27 base-pair deletion of the anti-müllerian type II receptor gene is the most common cause of the persistent müllerian duct syndrome
8. Endocrine and immunological findings in cryptorchid infants
9. Clinical aspects and molecular genetics of the persistent müllerian duct syndrome
10. Evaluation of gonadal function in 107 intersex patients by means of serum anti-müllerian hormone measurement
11. Müllerian-inhibiting substance regulates androgen synthesis at the transcriptional level