46,XX MALE: CLINICAL, HORMONAL/GENETIC FINDINGS

The clinical genetics and hormonal status of the 46,XX male is well determined. This is a rare condition that affects one out 20,000 male births. This study evaluates 5 infertile patients with no abnormalities in sex definition in whom we noted variants in their phenotype, like small penis, hypospad...

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Bibliographic Details
Published in:Archives of andrology 2002, Vol.48 (4), p.251-257
Main Authors: Castiñeyra, G., Copelli, S., Levalle, O.
Format: Article
Language:English
Subjects:
46,Xx Male
Adult
Azoospermia
Biological and medical sciences
Birth control
Cryptorchidism
Disorders of Sex Development - genetics
DNA - analysis
Estradiol - blood
Female
Follicle Stimulating Hormone - blood
Genes, sry - genetics
Genitalia, Male
Gynecology. Andrology. Obstetrics
Gynecomastia
Humans
Hypospadias
Infertility - genetics
Luteinizing Hormone - blood
Male
Male Infertility
Medical sciences
Oligospermia
Penis
Phenotype
Polymerase Chain Reaction
Prolactin - blood
Scrotum
Sterility. Assisted procreation
Testis
Testosterone - blood
Y-CHROMOSOME Sequences
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Summary:The clinical genetics and hormonal status of the 46,XX male is well determined. This is a rare condition that affects one out 20,000 male births. This study evaluates 5 infertile patients with no abnormalities in sex definition in whom we noted variants in their phenotype, like small penis, hypospadias, cryptorchidism, flat scrotum, and in some of them small testis. Only one patient had gynecomastia; all patients were azoospermics. Otherwise, serum FSH levels were elevated in only 3 patients and LH in 2. Serum levels of testosterone were low in 3 cases. Karyotype was 46,XX without evidence of mosaicism. PCR of genomic DNA studied revealed only the presence of SRY gene. DNA material in the Y chromosome was similar in all patients, but this did not correlate with the phenotype findings and hormonal levels in all of them. Testing new chromosomal markers should be of great value in the definition of clinical difference.
ISSN:0955-3002
0148-5016
1362-3095
DOI:10.1080/01485010290031556