Pituitary Genes and Syndromes (FML)

Question 1

SOX2 mutation

Answer 1

• Hormones affected: Many
• Phenotype: Missing an eye (think of the O in SOX as an eyeball) (anophthalmia)
• Imaging: Corpus callosum hypoplasia

Question 2

SOX3 mutation

Answer 2

“3 Southern Xs Grow Delayed in Corpus Christi”
- Genetics: X-linked
- Hormones affected: Usually GH, but sometimes others
- Phenotype: Developmental delay
- Imaging: Corpus callosum hypoplasia

Question 3

PITX2 mutation

Answer 3

SIT UP Gloria and Grow for Pity’s Sake
- Hormones affected: GH
- Phenotype = Rieger syndrome = SIT UP, Gloria = Small Iris, Teeth weird, Umbilical Problems, Glaucoma

Question 4

LHX3 mutation

Answer 4

• Hormones affected: FLAT G (+/-A)
• Phenotype: Limited neck rotation (L in LHX = L in Limited) + sensorineural hearing loss.

Question 5

small iris =

Answer 5

PITX2 mutation (Rieger syndrome)

Question 6

limited neck rotation =

Answer 6

LHX3 mutation
Think lucky number 3

Question 7

LHX4 mutation

Answer 7

• 4 Losers Grow Cereal with Arnold.
• Hormones affected: Usually just GH, but sometimes others.
• Imaging: Cerebellar defects + Arnold Chiari malformation.

Question 8

HESX1 mutation

Answer 8

• Hormones affected: Pretty much all of them, but GH dominates (think of G before H).
• Phenotype: Holoprosencephaly (think of H in holoprosencephaly).
• Imaging: ONH (think of H in ONH and HESX1)

Question 9

PROP1 mutation

Answer 9

• Hormones affected: Pretty much all of them, although ACTH loss is progressive.
• Most common genetic cause of combined pituitary hormone deficiencise.
• Phenotype: Normal.

Question 10

PIT1 (POUF1) mutation

Answer 10

• Hormones affected: Pretty Green Tights (think of a gay pouff) = Prolactin + GH + TSH
• Phenotype: Normal (because gay pouffs are so pretty).

Question 11

GLI2 mutation

Answer 11

• Hormones affected: All of them potentially can be affected.
• Phenotype: Holoprosencephaly

Question 12

holoprosencephaly =

Answer 12

HESX1 or GLI2 mutation

Question 13

GLI3 mutation

Answer 13

3 Gleeful Daddies Act Gay from Seizing Polyamorous Ho Hos.
- Genetics: AD mutation in GLI3
- Hormones affected: ACTH and GH
- Phenotype = Pallister-Hall syndrome: seizures, polydactyly, hypothalamic hamartomas.

Question 14

What is the most common genetic cause of combined pituitary deficiencies?

Answer 14

PROP1
Think of propping it up above all else

Question 15

This gene is associated with isolated ACTH deficiency.

Answer 15

TBX19

Question 16

OTX2 mutation

Answer 16

FLAG down the 2 Oxen with Ciera’s Clingy Eyes

• Genetics: AD
• Hormones associated: FLAG (think “FLAG the oxen down”) = FSH, LH, ACTH, GH.
• Phenotype: Eye abnormalities (including colobomas) + clinodactyly + chiari malformation

Question 17

chiari malformation =

Answer 17

Ciara gets LO
LHX4 or OTX2

Question 18

corpus callosum hypoplasia =

Answer 18

SOX2 or SO3 (think “Corpus Christi is in the South”

Question 19

teeth weird =

Answer 19

PITX2 (Reiger Syndrome)

Question 20

glaucoma =

Answer 20

PITX2 (Reiger Syndrome)

Question 21

“pretty green tights” =

Answer 21

PIT1/POUF1

Question 22

Pallister-Hall syndrome =

Answer 22

GLI3 = 3 Gleeful Daddies…

Question 23

hypothalamic hamartomas =

Answer 23

GLI3 = 3 Gleeful Daddies

Question 24

TBX19 =

Answer 24

isolated congenital ACTH deficiency

Question 25

clinodactyly =

Answer 25

OTX2 = FLAG Down the 2 Oxen with Ciera's Clingy Eyes

Question 26

FLAG Down the 2 Oxen with Ciera's Clingy Eyes =

Answer 26

OTX2