Syndromes

Question 1

Karyotype - Kallman

Answer 1

46 XX

Question 2

Modes of transmission - Kallman

Answer 2

X-linked (most common)

Autosomal dominant

Autosomal recessive

Question 3

Karyotype - Klinefelter

Answer 3

47 XXXY

Non-disjunctional event involving the sex chromosomes with error in spermato or oogenesis

Question 4

Karyotype - Jacob

Answer 4

47 XYY

Question 5

Describe the signs and sx of Kallman

Answer 5

Primary amenorrhea

Anosmia

Hypo Hypo (HPO axis)

Question 6

Describe the signs and sx Klinefelter

Answer 6

Tall stature, 1/3 have gynecomastia

Question 7

Describe the signs and sx of McCune Albright

Answer 7

Isosexual precocious puberty (40%)

GnRH independent

Diagnosed and treated as neonate then normal puberty occurs

Untreated then heterosexual precious puberty occurs

Question 8

Triad of McCune Albright

Answer 8

Cafe-au-lait spots

Fibrous dysplasia

Bone cysts (skull, long bones)

Question 9

Describe the signs and sx - Jacob

Answer 9

Aggressive behavior found in some studies

Phenotypically normal

Question 10

Describe the signs and sx - Sheehan

Answer 10

Acute necrosis of the pituitary gland

Postpartum hemorrhage and shock

Sx of hypopituitarism

Postpartum common is failure of lactation

Loss of pubic and axillary hair

CAN BE EMERGENCY

Question 11

Reproductive challenges involved with Kallman

Answer 11

Often need induction of ovulation (Clomid and the like will not usually work) even though they CAN produce oocytes, ovulate, carry, and deliver

Question 12

Reproductive challenges involved with Klinefelter

Answer 12

Primary infertility

Question 13

Reproductive challenges involved with Jacob

Answer 13

They are fertile, however, female partners are known to have increased or repetitive miscarriage

Question 14

Reproductive challenges involved with Sheehan syndrome

Answer 14

May require support w future attempts at pregnancy