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Reproductive Physiology, Endocrinology, and Infertility

Question
51 out of 56
 

17 yr girl with amenorrhea, atrophied breasts, hypoplastic uterus- (AIIMS Nov. 2009)



A Turners

B Gonadal dysgenesis

C Androgen insensitivity syndrome

D Klinefelter’s

Ans. A

Turner syndrome

1. Turner syndrome (also known as "Gonadal dysgenesis") encompasses several conditions, of which monosomy X (absence of an entire sex chromosome) is most common.

2. It is a chromosomal disorder in which all or part of one of the sex chromosomes is absent (unaffected humans have 46 chromosomes, of which 2 are sex chromosomes).

3. Typical females have 2 X chromosomes, but in Turner syndrome, one of those sex chromosomes is missing or has other abnormalities.

4. In some cases, the chromosome is missing in some cells but not others, a condition referred to as mosaicism or 'Turner mosaicism'.

5. Occurring in 1 out of every 2500 girls

6. There are characteristic physical abnormalities

i. short stature,

ii. Generalized swelling,

iii. broad chest,

iv. low hairline,

v. low-set ears,

vi. webbed necks.

7. Gonadal dysfunction results in amenorrhea and sterility.

8. congenital heart disease, hypothyroidism, diabetes, vision problems, hearing concerns, and many other autoimmune diseases

Reproductive Physiology, Endocrinology, and Infertility Flashcard List

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