Endocrinology pathologies Flashcards
Endometriosis:
What is it?
Symptoms?
Treatment?
Presence of functional endometrial tissue outside of the uterus
Treatments: Hormonal Laparascopic ablation Hysterectomy Bilateral Salpingo-oophorectomy
Symptoms: Menstrual pain Pain on intercourse Menstrual irregularities Infertility
Fibroids:
What are they?
Symptoms?
Treatment?
Benign tumours of the myometrium
Symptoms: Usually asymptomatic ↑ Menstrual pain Menstrual irregularities Deep dyspareunia Infertility
Treatment:
Hormones
Hysterectomy
Low testosterone
High FSH and LH
Diagnosis?
Primary testicular failure
What problems can low BMI, exercise and stress lead to in a male?
Acquired hypogonadotropic hypogonadism
Kallman’s syndrome:
What is it?
Symptoms?
Treatment?
Congenital hypogonadotropic hypogonadism
Failure of migration of GnRH neurons with olfactory fibres
Symptoms: Cryptorchidism Failure of puberty -Lack of testicle development -Micropenis -Primary amenorrhoea Infertility Anosmia
Hyperprolactinemia What is it? Causes? Symptoms? Treatment?
High levels of prolactin
Causes: Prolactinoma Pituitary stalk compression Pregnancy and breastfeeding Medications (dopamine antagonists) PCOS Hypothyroidism
Treatment:
Dopamine agonist
Klinefelter’s
What is it?
Symptoms?
Treatments?
Extra X chromosome (XXY)
Symptoms: Tall stature Low facial and chest hair Breast development Small penis and testes Wide hips Low bone density Female like pubes Narrow shoulders
How would I investigate infertility in a male?
Semen analysis
Blood tests- LH, FSH, fasting testosterone, SHBG, albumin, iron, karyotyping
Microbiology- urine test, chlamydia swab
Imaging
What could cause low FSH/LH/testosterone ?
Hyperprolactinemia
Premature Ovarian Insufficiency (POI) What is it? Hormone levels? Causes? Symptoms? Treatments?
Early menopause
Causes:
Autoimmune, genetic (fragile X or turners), cancer therapy
Symptoms:
Same as menopause
Low Oestrodial
High FSH and LH
PCOS: What is it? Additional complications and treatment? Diagnosis? Treatment?
Polycystic ovarian syndrome- most common cause of female infertility
Complications: increased insulin resistant. Treat with metformin
Treatment:
Hirsuitism- Creams/wax/laser, anti androgens
Irregular menses/ Amenorrhea- Oral contraceptive pill / Metformin
Prevent endometrial cancer: progesterone
Infertility: Clomiphene, letrozole, IVF
How is PCOS diagnosed?
Rotterdam criteria- 2/3 out of:
-Oligo/anovulation- assessed by menstrual frequency
-Hyperandrogenism- acne, hirsutism, alopecia, high testosterone
-Polycystic ovaries
Turners:
What is it?
Symptoms?
congenital female condition where they are partially missing an x chromosome
Symptoms: Short Low hairline Wide spaced nipples Poor breast development Amenorrhea
How would i investigate an infertile female?
Blood test
Pregnancy test
Microbiology
Imaging
How would I treat male infertility?
Give testosterone (if fertility not wanted)- Daily gel (tostran), 3 weekly IM injections, 3 monthly IM injection
Give gonadotropins (LH/FSH) if fertility wanted and hCG injections (acts on LH receptors)
How is ovulation induction encouraged?
- Lifestyle / Weight Loss / Metformin
- Letrozole (Aromatase inhibitor)
- Clomiphene (Oestradiol receptor antagonist)
- FSH stimulation (injection)
How is IVF carried out?
High dose of FSH to stimulate eggs
Prevent premature ovulation via GnRH agonist/antagonist
Give LH to allow egg maturation
Retrieve oocyte from ovary
Fertilisation in vitro or intracytoplasmic injection of sperm
Embryo incubation
Embryo transfer
What are emergency contraceptives?
Emergency contraceptive pill : Ulipristat acetate 30mg (ellaOne) within 5 days, Levenorgestrel 1.5mg (Levonelle) within 3 days- less effective
Ovarian hyperstimulation syndrome:
Causes?
Symptoms?
Causes: Prolonged exposure to hCG during IVF
Symptoms: Pleural effusion Ascites Renal failure Ovarian torsion
What medication can be used to support transgender women/men?
Trans Men- Testosterone injections or gels, progesterone to suppress menstrual bleeding
Trans Women- high dose oestrogen, reduce testosterone via GnRH agonists (desensitisation of HPG axis) and anti androgen medication
Graves disease What is it? Causes? Hormone levels? Symptoms? Treatment?
An autoimmune condition where antibodies bind to and stimulate the TSH receptor in the thyroid causing a smooth goitre (enlarged thyroid) and hyperthyroidism
Cause:
Autoimmune
Hormone levels:
High TSH
Low T3 and T4
Symptoms: Smooth goitre Exophthalmos Sweatiness Mostly female and young Weight loss with increased appetite High pulse Oligo/amenorrhea Swollen ankles and shins (pretibial myxoedema) Tremor Diarrhoea
Diagnosis:
Lid lag test
Treatment:
Thionamides- propylthiouracil and carbimazole
Potassium iodide
Radioiodine
Beta blockers (only helps with symptoms -fast acting)
Plummers disease
What is it?
Symptoms?
Hormone levels?
Benign toxic nodular goitre of thyroid (NOT autoimmune) that causes hyperthyroidism- one large benign growth and the rest of thyroid shrinks
Same as grave’s disease but NO pre-tibial myxoedema or exophthalmos
Treatment:
Thionamides- propylthiouracil and carbimazole
Potassium iodide
Radioiodine
Beta blockers (only helps with symptoms -fast acting)
Thyroid storm
What is it?
Symptoms?
Untreated hyperthyroidism= lots of excess thyroxine
Symptoms: Hyperpyrexia (fever) > 41oC accelerated tachycardia / arrhythmia cardiac failure delirium / frank psychosis hepatocellular dysfunction; jaundice
Need urgent in hospital treatment- 50% mortality untreated
Treat with radioiodide
Viral thyroiditis
What is it?
Symptoms?
Diagnosis?
Virus attacks thyroid gland causing pain and tenderness. Thyroid stops making thyroxine and starts making viruses instead
Symptoms: Painful dysphagia Hyperthyroidism Pyrexia Thyroid inflammation
Diagnosis:
They have no iodine uptake at all (cells are too inflamed), this wouldn’t happen in Graves or Plummers- scan would be empty
Addison's disease What is it? Symptoms? Diagnosis? Treatment?
Primary adrenal failure. Autoimmune disease where the immune system decides to destroy the adrenal cortex (commonest in UK) OR tuberculosis of the adrenal glands (commonest cause worldwide)
Pituitary starts secreting lots of ACTH and hence MSH
Symptoms:
Increased pigmentation
Autoimmune vitiligo may coexist
No cortisol or aldosterone, so low blood pressure
Diagnosis:
9am cortisol (should be high in a healthy patient)
ACTH level
Short synACTHen test - give 250 ug synacthen IM (synATCHENen mimics ACTH and stimulates ACTH release. In healthy patient cortisol should increase)
Treatment:
Fludrocortisone (50-100mcg)
Hydrocortisone three times daily (10 (morning) + 5 (lunch) + 2.5 (dinner)) OR
Prednisolone 3mg daily
Congenital adrenal hyperplasia
Onset?
Causes?
Hormone levels?
Treatment?
Onset:
From birth
Causes:
Commonest cause is by 21-hydroxylase deficiency (missing gene). Can be complete (complete loss of gene) or partial (mutation)
Symptoms:
Symptoms begin at birth
Salt losing addisonian crisis, become floppy and drowsy
Treatment:
Saline
Partial 21 hydroxylase deficiency
Onset?
Symptoms?
Onset:
Any age as they survive birth
Symptoms:
Hirsuitism (excess testosterone)
Virilisation in girls
Precocious (early) puberty in boys (excess testosterone)
11- hydroxylase deficiency
Symptoms?
Hormone levels?
Symptoms:
Excess buildup of 11-deoxycorticosterone which behaves like aldosterone
Hypertension and hypokalemia
Virilisation (due to excess testosterone)
17 hydroxylase deficiency
Symptoms?
Hormones?
Symptoms: Hypertension Hypokalaemia Sex steroid deficiency Glucocorticoid deficiency (low glucose).
Hormones:
Deficient- cortisol and sex steroids
Excess- 11-deoxycorticosterone and aldosterone (mineralocorticoids)
