Medical MCQ-46, XY chromosomal pattern with uterus and cervix but poorly developed breasts are seen in

46, XY chromosomal pattern with uterus and cervix but poorly developed breasts are seen in

Swyer syndrome

Turner syndrome

Androgen insensitivity syndrome

Klinefelter syndrome

Question Category:

Gynaecology & Obstetrics

Correct Answer:

Swyer syndrome

Description:

Complete Gonadal Dysgenesis (Swyer Syndrome)Swyer syndrome is an uncommon form of gonadal dysgenesis, characterized by a 46, XY karyotype.Despite the presence of a Y chromosome, the phenotype is female because the dysgenetic (streak) gonads produce neither AMH nor androgens. Consequently, the vagina, cervix, uterus, and fallopian tubes develop normally and the internal and external genitalia do not masculinize but due to hypoestrogenism breasts are poorly developed.Reference: Clinical gynecologic endocrinology; 10th edition; Chapter 9; Normal and Abnormal Sexual Development; Page no: 365

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