Syndromes in gyne

Question 1

what is kallman syndrome ?

Answer 1

failure of gonadotropin-releasing hormone (GnRH) secreting neurons to migrate to the hypothalamus. It results in hypogonadotropic hypogonadism.

Question 2

inheritance of KALLMAN syndrome?

Answer 2

X-linked recessive

Question 3

clinical features of KALLMAN ?

Answer 3

lack of smell
delayed puberty’
hypogonadism,
cryptorchidism - testes fail to descend

Cleft lip/palate and visual/hearing defects are also seen

Question 4

diagnosis of kallman ?

Answer 4

LH, FSH levels are normal or low
testosterone - low

Question 5

x

Answer 5

x

Question 6

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Answer 6

x

Question 7

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Answer 7

x

Question 8

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Answer 8

x

Question 9

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Answer 9

x

Question 10

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Answer 10

x

Question 11

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Answer 11

x

Question 12

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Answer 12

x

Question 13

what is androgen insensitivity syndrome ?

Answer 13

X-linked recessive condition, resulting in an overall resistance to testosterone.

Question 14

x

Answer 14

x

Question 15

x

Answer 15

x

Question 16

clinical features of androgen insensitivity ?

Answer 16

patient will have a male karyotype (46XY) with an external female phenotype.

External female genitalia will be present and breasts may develop at puberty, due to the conversion of testosterone to oestradiol. However, there will be no internal female organs, and testicles will be present in the abdomen (potentially causing a groin swelling). If not identified at birth, it can present with primary amenorrhoea.

Question 17

x

Answer 17

x

Question 18

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Answer 18

x

Question 19

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Answer 19

x

Question 20

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Answer 20

x

Question 21

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Answer 21

x

Question 22

what is klienfelter syndrome ?

Answer 22

karyotype 47XXY, resulting in hypergonadotropic hypogonadism. Although it can present with delayed puberty in male, the hormone profile would show elevated levels of FSH and LH, with low testosterone.

Question 23

clinical features of klienfelter syndrome ?

Answer 23

tall stature, gynaecomastia and a small penis/ teste

Question 24

x

Answer 24

x

Question 25

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Answer 25

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Question 26

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Answer 26

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Question 27

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Answer 27

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Question 28

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Answer 28

x

Question 29

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Answer 29

x

Question 30

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Answer 30

x

Question 31

what is turner syndrome ?

Answer 31

It is caused by either the presence of only one sex chromosome (X) or a deletion of the short arm of one of the X chromosomes. Turner’s syndrome is denoted as 45,XO or 45,X.

Question 32

clinical features of turner syndrome ?

Answer 32

short stature
shield chest, widely spaced nipples
webbed neck
multiple pigmented naevi
lymphoedema in neonates (especially feet)

heart
bicuspid aortic valve (15%),
coarctation of the aorta (5-10%)

endocrine
hypothyroidism

kidney
horseshoe kidney: the most common renal abnormality in Turner’s syndrome

PRIMARY AMENORRHEA