Reproduction - Endocrine

Question 1

What is Kallmann’s syndrome?

Answer 1

ecognised cause of delayed puberty secondary to hypogonadotropic hypogonadism. Kallmann’s syndrome is thought to be caused by failure of GnRH-secreting neurons to migrate to the hypothalamus.

Question 2

How is Kallman’s usually inherited?

Answer 2

It is usually inherited as an X-linked recessive trait.

Question 3

Kallman’s - The clue given in many questions is

Answer 3

lack of smell (anosmia) in a boy with delayed puberty.

Question 4

Features of Kallman’s

Answer 4

‘delayed puberty’
hypogonadism, cryptorchidism
anosmia
sex hormone levels are low
LH, FSH levels are inappropriately low/normal
patients are typically of normal or above average height

Cleft lip/palate and visual/hearing defects are also seen in some patients

Question 5

Klinefelter’s syndrome is associated with karyotype

Answer 5

karyotype 47, XXY.

Question 6

Feature’s of Klinefelter’s syndrome?

Answer 6

often taller than average
lack of secondary sexual characteristics
small, firm testes
infertile
gynaecomastia - increased incidence of breast cancer
elevated gonadotrophin levels but low testosterone

Question 7

Diagnosis Klinefelter’s?

Answer 7

karyotype (chromosomal analysis)

Question 8

Which disorders are associated with karyotype 46XY?

Answer 8

Androgen insensitivity syndrome
5-α reductase deficiency
Male pseudohermaphroditism

Question 9

What karyotype is associated with Female pseudohermaphroditism?

Answer 9

46 XX

Question 10

What karyotype is associated with True hermaphroditism?

Answer 10

46 XX or 47 XXY

Question 11

Inheritance of Androgen insensitivity syndrome

Answer 11

X-linked recessive condition

Question 12

Inheritance of 5-α reductase deficiency

Answer 12

Autosomal recessive condition

Question 13

What is Androgen insensitivity syndrome?

Answer 13

Defect in androgen receptor results in end-organ resistance to testosterone causing genotypically male children (46XY) to have a female phenotype. Rudimentary vagina and testes present but no uterus.

Question 14

What is 5-α reductase deficiency

Answer 14

Results in the inability of males to convert testosterone to dihydrotestosterone (DHT). Individuals have ambiguous genitalia in the newborn period. Hypospadias is common. Virilization at puberty.

Question 15

Androgen insensitivity syndrom hormone profile

Answer 15

Testosterone, oestrogen and LH levels are elevated

Question 16

What is Male pseudohermaphroditism

Answer 16

Individual has testes but external genitalia are female or ambiguous. may be secondary to androgen insensitivity syndrome

Question 17

What is Female pseudohermaphroditism

Answer 17

Individual has ovaries but external genitalia are male (virilized) or ambiguous. May be secondary to congenital adrenal hyperplasia

Question 18

What is True hermaphroditism

Answer 18

Very rare, both ovarian and testicular tissue are present