Kallmann Syndrome

Question 0

Reproductive features

Answer 0

Failure to start or complete puberty

Lack of testicular development

Primary amenorrhea

Poorly defined secondary characteristics

Infertility

Question 1

Genetics

Answer 1

Hypo gonadotropic hypo gonadism

Affected Sense of smell

1:50 000

Question 2

Non reproductive features

Answer 2

Anosmia

Cleft palate

Unilateral renal agenesis or aplasia

Criptorchidism

Neural hearing defects

Dental defects

Sinkinesis

Normal stature but they can be very tall if treatment not started

Question 3

Lab tests

Answer 3

LH
FSH
PROLACTIN
X-RAY for bone age - if significantly lower than chronological age than defines delay
Karyotype to exclude klinefelter or turner
MRI head to check for olfactory bulbs and physical irregularities of hypothalamus and pituitary gland
Genetic screening not great as too many genes involved so negative result would not rule out diagnosis