Kallman Syndrome

Question 1

Inheritence of Kallman syndrome

Answer 1

X-linked Recessive trait

Question 2

The most common presentation of Kallman syndrome

Answer 2

Anosmia (Lack of smell) + Hypogonadotrophic hypogonadism + Delayed puberty

Question 3

Chromosomal abnormality + anosmia/lack of smell >>> D/D?

Answer 3

Kallman syndrome

Question 4

Sex/Gender of Kallman syndrome

Answer 4

Male

Question 5

Pathophysiology of Kallman syndrome

Answer 5

Failure of GnRH-secreting tumours to migrate to the hypothalamus

Question 6

Stature/size of Kallman syndrome patient

Answer 6

Normal or above average height

Question 7

Features of Kallman syndrome

Answer 7

Remember the triad:

1. Delayed puberty

2. Hypogonadotrophic hypogonadism

• Hypogonadism
• Crytorchidism/undescended testes/testes is only few mm/ml in size
• LSH, FSH low/normal (inappropriately)
• Testosterone: low

3. Anosmia

(some patients have cleft lip, cleft palate, visual defects)

Question 8

Hormonal profile of Kallman syndrome and Klinefelter syndrome

Answer 8

Klinefelter syndrome: LH, FSH >>> Raised; Testosterone >>> low/low-normal

Kallman syndrome: LSH, FSH >>> Low/normal; Testosterone >>> Low

Question 9

Treatment of Kallman syndrome

Answer 9

Long-term treatment:

• HCG or Testosterone

Question 10

Why do we give HCG/testosterone in Kallman syndrome?

Answer 10

To restore secondary sexual characteristics

Question 11

What is the appearance of genitalia in Androgen Insensitivity Syndrome?

Answer 11

Female external genitalia

Question 12

If a boy has Kallman syndrome, what is his family history?

Answer 12

Mother is definitely carrier/affected (heterozygote/homozygote)

Father cannot be predicted

Question 13

Can a boy of Kallman syndrome get his disease from his father?

Answer 13

NO

NO male to male transmission for X-linked recessive disorders