Pubertal/reproductive Flashcards
Amenorrhoea
a) primary
b) secondary
a) - Girls without periods or any secondary sexual characteristics by age 13, or
- Girls with normal secondary sexual characteristics but no periods by age 15
b) - Cessation of periods for 3-6 months in those with previously normal periods, or
- 6-12 months in those with previous oligomenorrhoea
Kallmann syndrome
a) Inheritance
b) Presentation
c) Finding on MRI Brain
d) Management
a) X-linked recessive or autosomal recessive, or de Novo
b) - Anosmia + hypothalamic hypogonadism (low libido, small genitalia, reduced pubic hair)
- Often tall
- May have associated cleft lip/palate
c) Absent olfactory bulbs bilaterally
d) - GnRH analogues - given as pulsed therapy while trying to conceive
- May switch to testosterone after conceiving
Androgen insensitivity syndrome*
a) Explain
b) Gene and inheritance
c) Presentation
*AKA testicular feminisation
a) - XY genotype, but cannot respond to testosterone (to varying degrees from complete to partial)
- Gives rise to degrees of feminisation
b) - Mutation in the androgen receptor (AR) gene on the X chromosome, causing defective androgen receptor
- X-linked recessive inheritance in 2/3 (1/3 de novo)
c) Complete:
- Female appearance and external genitalia (raised as females)
- Absence of pubic/secondary sexual hair
- No uterus so never menstruate
- Have undescended testes (present as “inguinal hernias” at birth) - risk of cancer if not removed
Partial (Reifenstein syndrome):
- May have feminine, ambiguous or masculine external genitalia
- May be raised as females or males
- Typically more male in appearance but often have breasts in puberty
- Infertile
PCOS
a) Core features and prevalence
b) Biochemical findings
c) Management
a) Rotterdam criteria, must have 2/3 of:
1. Oligo/amenorrhoea
2. Clinical or biochemical hyperandrogenism
3. Presence of polycystic ovaries.
Common features:
- Obesity (35%)
- Hirsutism (60%)
- Acne
- Irregular periods (70%)
- Infertility (30%)
- Insulin resistance - leads to diabetes and dyslipidaemia
b) - Raised LH
- LH:FSH ratio >3
- Low SHBG (due to high insulin resistance)
- Raised androgens - testosterone, FAI (though may be normal)
c) - 1st line - weight loss
- Metformin - reduces insulin resistance
- Clomifene - stimulates ovulation
- Co-cyprindiol (Dianette) - useful for hirsutism as an anti-androgen. 2nd line use COCP (beware VTE risks in overweight patients), spironolactone or finasteride
Anorexia - weight gain aims
0.5kg/week in outpatient setting
0.5 - 1kg/week in inpatient setting
Early menopause
a) Define
b) FSH testing
c) Causes
d) Management
e) Proportion who may become pregnant
a) Menopause in women <40 years
b) FSH >30 on two separate samples taken 4-6 weeks apart
c) - Idiopathic
- Surgery - hysterectomy/oopherectomy
- Chemoradiotherapy
- Genetic - Fragile X (test for FMR1 gene), Turner (karyotype)
- Autoimmune conditions - e.g. Addison’s, thyroid, T1DM
d) HRT until age 51 (protect against osteoporosis)
e) 10%
Hirsutism
a) % women with “hirsutism”
b) Other signs of virilisation suggesting an endocrine diagnosis
c) Diagnostic test for virilisation
d) Causes
a) 20% but the vast majority have no endocrine disease
b) Voice deepening, clitoral enlargement, breast atrophy
c) - Testosterone >5 indicates virilisation (e.g. testosterone secreting tumour - adrenal/ovary)
- PCOS, CAH, etc. may cause hirsutism with testosterone <5
d) - Drugs - ciclosporin, minoxidil, anabolic steroids
- Ovarian x2 - PCOS, tumour
- Adrenal x2 - CAH, tumour
Turner syndrome
a) Hormones
b) Presentation
a) Raised LH/FSH, low oestrogen (primary gonadal failure)
b) Primary amenorrhoea, short stature, webbed neck, cardiac abnormalities
Klinefelter’s syndrome
a) Hormone profile
b) Clinical features
a) Primary gonadal failure - raised FSH/LH and low testosterone. Normal GnRH (vs low GnRH in Kallmann)
b) - Tall stature, gynaecomastia, small testes, infertility, risk of breast Ca
18 year old male presents with headaches for 6 months, growth failure and reduced secondary sexual characteristics. CT head shows a suprasellar calcified cyst.
Craniopharyngioma
HRT
a) Oestrogen only vs combined
b) Contraindications
c) Benefits
d) Risks of cancers and other risks
a) - Women without uterus - give oestrogen only
- Women with uterus - give combined
b) - Current or past breast/ovarian/endometrial Ca
- Previous VTE or thrombophilia unless already on anticoagulation
- Angina or myocardial infarction
- Active liver disease with abnormal liver function tests.
- Pregnancy
c) - Relief of menopausal symptoms
- Improved sexual function
- Reduced risk of osteoporosis and fracture
- May reduce risk of CHD
d) - Breast / ovarian / endometrial Ca
- VTE
- Stroke
- Diabetes
