Revision Flashcards
McCune-Albright Syndrome
Cause of precocious puberty
Triad of:
- Fibrous dysplasia
- Cafe-au-lait spots
- Endocrinopathies including peripheral precocious puberty
Kallmann Syndrome
Cause of delayed puberty
Hypogonadotrophic hypogonadism + anosmia
Antibiotic therapy for toxoplasmosis
Spiramycin <18/40 (reduces vertical transmission)
Pyrimethamine + sulfadiazine (+ folinic acid) in confirmed congenital toxoplasmosis (reduces severity) - also used to treat infant for 12 months
What is the mechanism of action and dose schedule of letrozole?
Aromatase inhibitor
2.5mg day 3-7
Can increase to 5mg, then 7.5mg
What is the mechanism of action and dose schedule of clomiphene?
Selective oestrogen receptor modulator (SERM)
50mg day 2-6 or day 5-9
Can increase to 100mg then 50mg
Causes of ambiguous genitalia
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)
Differential diagnosis for thrombocytopenia in pregnancy
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
Precipitants of sickle cell crises
Cold
Hypoxia
Dehydration
Over-exertion
Stress
Pain
Umbilical vein varix - % association with genetic and structural abnormalities
10% genetic abnormalities
20% structural abnormalities
Fetal risks associated with umbilical vein varix
IUFD (4%)
Thrombosis
SGA
Monitoring of fetal vein varix
Growth scans (MFM), then weekly USS from 32/40 with once-twice weekly CTGs
(IOL 39/40)
What medications are used to manage hyperprolactinaemia caused by a prolactinoma
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)
In utero DES exposure risks
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
Inheritance of Marfan’s syndrome
Autosomal dominant
Inheritance of CAIS
X-linked recessive in 2/3
*“sisters” may be affected (46XY)
Inheritance of 21-hydroxylase deficiency (90-95% of CAH)
Autosomal recessive (chromosome 6)
Mode of birth if dilated aortic root >4cm (i.e. in Marfan’s)
ELCS under regional block
Basic risks of fetal alcohol syndrome
- Physical features e.g. growth impairment, dysmorphic facial features, structural anomalies (e.g. skeletic, renal, heart, ocular, auditory)
- Behavioural issues
- Neurodevelopmental delay
What are the short term neonatal complications of prematurity?
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
What are the long term complications of prematurity?
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
