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Are human male patients with DAX1/NR0B1 mutations infertile?
Ravel C, Hyon C, Siffroi JP, Christin-Maitre S. Ravel C, et al. Ann Endocrinol (Paris). 2014 May;75(2):126-7. doi: 10.1016/j.ando.2014.03.003. Epub 2014 Apr 21. Ann Endocrinol (Paris). 2014. PMID: 24751136 Review.
DAX-1 stands for Dosage sensitive sex-reversal, Adrenal hypoplasia congenital (AHC), on the X chromosome. ...DAX-1 protein is necessary to maintain normal spermatogenesis. In humans, male fertility has been studied in few patients carrying DAX-1
DAX-1 stands for Dosage sensitive sex-reversal, Adrenal hypoplasia congenital (AHC), on the X chromosome. ...DAX-1
Investigation of mutations in the SRY, SOX9, and DAX1 genes in sex reversal patients from the Sichuan region of China.
Chen L, Ding XP, Wei X, Li LX. Chen L, et al. Genet Mol Res. 2014 Mar 12;13(1):1518-26. doi: 10.4238/2014.March.12.4. Genet Mol Res. 2014. PMID: 24668626 Free article.
Furthermore, the copy number of SOX9 was measured by fluorescence quantitative PCR. Seven of the 10 male sex reversal patients (46, XX) contained an excess copy of the SRY gene, while one of the eight female sex reversal patients (46, XY) …
Furthermore, the copy number of SOX9 was measured by fluorescence quantitative PCR. Seven of the 10 male sex reversal patients …
'Idiopathic' partial androgen insensitivity syndrome in 28 newborn and infant males: impact of prenatal exposure to environmental endocrine disruptor chemicals?
Gaspari L, Paris F, Philibert P, Audran F, Orsini M, Servant N, Maïmoun L, Kalfa N, Sultan C. Gaspari L, et al. Eur J Endocrinol. 2011 Oct;165(4):579-87. doi: 10.1530/EJE-11-0580. Epub 2011 Jul 25. Eur J Endocrinol. 2011. PMID: 21788424
OBJECTIVE: 46,XY disorders of sex differentiation (46,XY DSD) can be due to a testis determination defect, an androgen biosynthesis defect, or androgen resistance (complete or partial androgen insensitivity syndrome (PAIS), or 5alpha reductase d …
OBJECTIVE: 46,XY disorders of sex differentiation (46,XY DSD) can be due to a testis determination defect …
Gender identity reversal in an adolescent with mixed gonadal dysgenesis.
Birnbacher R, Marberger M, Weissenbacher G, Schober E, Frisch H. Birnbacher R, et al. J Pediatr Endocrinol Metab. 1999 Sep-Oct;12(5):687-90. doi: 10.1515/jpem.1999.12.5.687. J Pediatr Endocrinol Metab. 1999. PMID: 10703543
We describe a patient who was assigned female at birth because of genital ambiguity without performing further diagnostic procedures and presented at the age of 13-1/2 years because of her strong desire to change her legal sex. Karyotype was 46,XY; …
We describe a patient who was assigned female at birth because of genital ambiguity without performing further diagnostic procedures and pre …
Experiment of nurture: ablatio penis at 2 months, sex reassignment at 7 months, and a psychosexual follow-up in young adulthood.
Bradley SJ, Oliver GD, Chernick AB, Zucker KJ. Bradley SJ, et al. Pediatrics. 1998 Jul;102(1):e9. doi: 10.1542/peds.102.1.e9. Pediatrics. 1998. PMID: 9651461
Guidelines of psychosexual management for infants born with physical intersex conditions are intended to assist physicians and parents in making decisions about sex of assignment and rearing including the following: 1) sex assignment should be to the gender t …
Guidelines of psychosexual management for infants born with physical intersex conditions are intended to assist physicians and parents in ma …
A genetic male infant with female phenotype in camptomelic syndrome: a possible relationship to exposure to oral contraceptives during pregnancy.
Kim MR, Qazi QH, Anderson VM, Valencia GB. Kim MR, et al. Am J Obstet Gynecol. 1995 Mar;172(3):1042-3. doi: 10.1016/0002-9378(95)90042-x. Am J Obstet Gynecol. 1995. PMID: 7892846
Camptomelic syndrome is a severe malformation disorder affecting infant cartilage and bone formation. This syndrome is also characterized by sex reversal in a significant proportion of phenotypic females. ...This may be the second reported case involving exposure to …
Camptomelic syndrome is a severe malformation disorder affecting infant cartilage and bone formation. This syndrome is also characterized by …