Revision

Question 1

McCune-Albright Syndrome

Answer 1

Cause of precocious puberty

Triad of:
- Fibrous dysplasia
- Cafe-au-lait spots
- Endocrinopathies including peripheral precocious puberty

Question 2

Kallmann Syndrome

Answer 2

Cause of delayed puberty

Hypogonadotrophic hypogonadism + anosmia

Question 3

Antibiotic therapy for toxoplasmosis

Answer 3

Spiramycin <18/40 (reduces vertical transmission)
Pyrimethamine + sulfadiazine (+ folinic acid) in confirmed congenital toxoplasmosis (reduces severity) - also used to treat infant for 12 months

Question 4

What is the mechanism of action and dose schedule of letrozole?

Answer 4

Aromatase inhibitor

2.5mg day 3-7
Can increase to 5mg, then 7.5mg

Question 5

What is the mechanism of action and dose schedule of clomiphene?

Answer 5

Selective oestrogen receptor modulator (SERM)

50mg day 2-6 or day 5-9
Can increase to 100mg then 50mg

Question 6

Causes of ambiguous genitalia

Answer 6

46 XX (virilisation)
- CAH (50% of cases)
- Exposure to maternal androgens in utero e.g. danazol, progestogens, maternal androgen secreting tumour
- Placental aromatase deficiency

46XY
- PAIS
- 5-alpha-reductase deficiency (autosomal recessive)
- AMH receptor defect
- Exposure to anti-androgenic medications in utero e.g. phenytoin, spironolactone, finasteride

46XX/46XY mosaicism

45X0/46XY mosaicism (Turners)

47XXY - Klinefelters syndrome (hypospadias or micropenis)

Question 7

Differential diagnosis for thrombocytopenia in pregnancy

Answer 7

Gestational
ITP (immune thrombocytopenic purpura)
Lab error
PET, HELLP
HUS/TTP
Sepsis
DIC
HIV, other infections
SLE, APLS, other autoimmune
Bone marrow suppression
Folate deficiency

Question 8

Precipitants of sickle cell crises

Answer 8

Cold
Hypoxia
Dehydration
Over-exertion
Stress
Pain

Question 9

Umbilical vein varix - % association with genetic and structural abnormalities

Answer 9

10% genetic abnormalities
20% structural abnormalities

Question 10

Fetal risks associated with umbilical vein varix

Answer 10

IUFD (4%)
Thrombosis
SGA

Question 11

Monitoring of fetal vein varix

Answer 11

Growth scans (MFM), then weekly USS from 32/40 with once-twice weekly CTGs
(IOL 39/40)

Question 12

What medications are used to manage hyperprolactinaemia caused by a prolactinoma

Answer 12

Bromocriptine
Carbergoline (favoured in pregnancy as lesser side effects)

*Dopamine agonists usually discontinued in pregnancy, but may be re-introduced if tumour expansion (headaches, bitemporal hemianopia, diabetes insipidis)

Question 13

In utero DES exposure risks

Answer 13

Breast cancer
Vaginal and cervical clear cell adenocarcinoma
VAIN and CIN
Subfertility
Structural uterine abnormalities (T-shaped or hypoplastic uterus, endometrial adhesions, cervical malformations)
Pregnancy complications:
- Miscarriage
- Preterm birth
- Ectopic pregnancy
- Stillbirth
- PET
Early menopause

Question 14

Inheritance of Marfan’s syndrome

Answer 14

Autosomal dominant

Question 15

Inheritance of CAIS

Answer 15

X-linked recessive in 2/3

*“sisters” may be affected (46XY)

Question 16

Inheritance of 21-hydroxylase deficiency (90-95% of CAH)

Answer 16

Autosomal recessive (chromosome 6)

Question 17

Mode of birth if dilated aortic root >4cm (i.e. in Marfan’s)

Answer 17

ELCS under regional block

Question 18

Basic risks of fetal alcohol syndrome

Answer 18

• Physical features e.g. growth impairment, dysmorphic facial features, structural anomalies (e.g. skeletic, renal, heart, ocular, auditory)
• Behavioural issues
• Neurodevelopmental delay

Question 19

What are the short term neonatal complications of prematurity?

Answer 19

Hypothermia
Respiratory dysfunction
- RDS (surfactant deficiency)
- Bronchopulmonary dysplasia (chronic lung disease)
- Apnoeas of prematurity
PDA
- Risk of persistant pulmonary hypertension and Eisenmengers
Hypotension
IVH (fragile germinal matrix sensitive to haemodynamic instability)
Hypoglycaemia
Jaundice
NEC
Sepsus
Retinopathy of Prematurity
Death

Question 20

What are the long term complications of prematurity?

Answer 20

Recurrent hospitalisations e.g. from respiratory infections, GE
Increased risk SUDI
Increased risk neurodevelopmental disabilities
Chronic health issues e.g. CKD, HTN
Growth impairment (extreme preterm)
Impaired lung function
Increased need for health and education support