نتایج جستجو برای: 46 xy female
تعداد نتایج: 351927 فیلتر نتایج به سال:
Vaginal agenesis, which occurs in approximately I in every 5,000 to 7,000 female births, is a significant threat to the mental health and well-being of an otherwise normal, healthy young woman. More than 90% of patients with vaginal agenesis fulfill the criteria for the Rokitansky-KusterHauser syndrome-ie, 46,XX karyotype with normal, functioning ovaries. Although it is typically absent, about ...
This study examined photoperiodic regulation of affective behaviours in collared lemmings (Dicrostonyx groenlandicus). Male and female lemmings were housed in either long (LD 22:2), intermediate (LD 16:8), or short days (LD 8:16) for 9 weeks. Exposure to short days induced moult to a winter pelage and gonadal regression in male, but not female, lemmings. Lemmings housed in long days reduced anx...
BACKGROUND The 46,XY female is characterised by a male karyotype and female phenotype arising due to any interruption in the sexual development pathways in utero. The cause is usually genetic and various genes are implicated. CASE PRESENTATION Herein we describe a 46,XY woman who was first diagnosed with androgen insensitivity syndrome (testicular feminisation) at 18 years; however, this was ...
Contrary to the expected XX/XY sex chromosome complements in hermaphroditism, a variety of karyotypes have been reported instead. Dewhurst et al. (1965) summarized from published reports the karyotypic findings in 27 patients with convincing evidence ofhermaphroditism, as follows: 46,XX (17); 46,XY (2); 46,XX/47,XXX (1); 46,XX/46,XX + Frag (1); 46,XX/46,XY (3); 46,XX/47,XXY/ 49,XXYYY (1); 46,XX...
CONTEXT Steroidogenic factor 1 (SF1/AdBP4/FTZF1, NR5A1) is a nuclear receptor transcription factor that plays a key role in regulating adrenal and gonadal development, steroidogenesis, and reproduction. Targeted deletion of Nr5a1 (Sf1) in the mouse results in adrenal and gonadal agenesis, XY sex-reversal, and persistent Müllerian structures in males. Consistent with the murine phenotype, human ...
A 16-year-old female patient presented with complaints of amenorrhea and lack of breast development. Baseline hormonal results were consistent with primary ovarian failure. Ovaries and uterus could not be demonstrated by ultrasonographic evaluation. No deletion-type mutation was detected in the SRY gene of the patient whose karyotype was 46, XY. The gonads, both of which were detected as streak...
17-β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) is an important enzyme involved in the final steps of androgen synthesis and is required for the development of normal male external genitalia. 46,XY individuals with deficiency of this enzyme present a wide clinical spectrum from a female appearance of the external genitalia through ambiguous genitalia to a predominantly male genitalia with m...
Contrary to the expected XX/XY sex chromosome complements in hermaphroditism, a variety of karyotypes have been reported instead. Dewhurst et al. (1965) summarized from published reports the karyotypic findings in 27 patients with convincing evidence ofhermaphroditism, as follows: 46,XX (17); 46,XY (2); 46,XX/47,XXX (1); 46,XX/46,XX + Frag (1); 46,XX/46,XY (3); 46,XX/47,XXY/ 49,XXYYY (1); 46,XX...
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