Endocrine Flashcards
What is cryptochidism?
Undescended testes - don’t descend through inguinal canal
What is the management for cryptochidism?
Watch and wait
Most descend in 3-6 months
Orchiodopexy at 6-12 months
What is testicular torsion?
Twisting of spermatic cord within the tunica vaginalis
Causes occlusion of testicular blood flow
What is a risk factor for testicular torsion?
Bell clapper deformity - horizontal lie so testes are not fixed to scrotum
What are the clinical features of testicular torsion?
Sudden onset severe unilateral testicular pain
Makes walking painful
Abdominal pain
Hot, swollen and tender testicle
What are two signs of testicular torsion?
Cremasteric reflex is absent
Negative phrens sign
What is the management of testicular torsion?
Untwist within 4-6 hours to prevent loss
What are two differentials for testicular torsion?
Testicular appendage torsion
Epididymo-orchitis (phrens sign positive)
What is PICA?
A feeding disorder in which someone eats non-food substances with no nutritional value such as paper, soap, chalk, charcoal, ash, hair or ice
What is PICA most likely to occur alongside?
Iron deficiency anaemia
OCD
Depression
Pregnancy
Autism
Schizophrenia
What is trichophagia?
Eating hair - can get stuck in digestive tract and cause blockages
What is geophagia?
Eating soil - can eat parasites
What are the clinical features of PICA?
Anaemia
Ascariasis
Constipation
Electrolyte imbalance
arrhythmias
Give 2 genetic causes of obesity
Prader willi
Leptin deficiency
Give 3 endocrine causes of obesity
Hypothyroidism
Cushings
PCOS
What is precocious puberty?
Early onset and rapid progression of puberty.
Under 8 years in females and under 9 years in males.
What is central PP?
Gonadotrophin dependent
Can be idiopathic
What is peripheral PP?
Gonadotrophin independent
What is hypothyroidism?
Low levels of thyroid hormone which can be congenital or acquired
What are some later presentations as a baby with hypothyroidism?
Prolonged neonatal jaundice, poor feeding, constipation, increased sleeping, reduced activity, coarse facies, hoarse cry
What is the most common acquired cause of hypothyroidism?
Autoimmune Hashimoto’s thyroiditis with anti-TPO antibodies
What are the symptoms of hypothyroidism?
Fatigue, weight gain, poor growth and school performance, dry skin and hair, cold intolerance, bradycardia, pseudo-puberty
What are the tests for hypothyroidism?
Full thyroid function blood tests - TSH, T3, T4
Thyroid USS
Thyroid antibodies
Name the treatment for hypothyroidism and 2 side effects
Levothyroxine
AF and osteoporosis
What is hypogonadism?
Lack of sex hormones - testosterone and oestrogen
When does normal puberty start for boys?
9-15 years
When does normal puberty start for girls?
8-14 years
What does puberty in girls start with?
Breast buds then pubic hair then periods
What does puberty in boys start with?
Testicle enlargement, penis enlargement, pubic hair, voice deepens
What is hypogonadotropic hypogandism
Deficiency of LH and FSH leading to deficiency of testosterone and oestrogen
What are some causes of deficiency of LH and FSH?
Kallman syndrome
Hypothyroidism
GH deficiency
IBD or CF
Excessive exercise or dieting
What is the treatment for hypogonadotropic hypogonadism?
Replacement therapy of oestrogen and testosterone as injections, gels, patches or tablets
What is hypergonadotropic hypogonadism?
Gonads fail to respond to stimulation from LH and FSH with no negative feedback from oestrogen and testosterone
What are some causes of hypergonadotropic hypogonadism?
Previous gonad damage - testicular torsion, cancer, mumps
Congenital absence of testes or ovaries
Kleinfelters/ Turners
What is the treatment for hypergonadotropic hypogonadism?
Oestrogen or testosterone replacement therapy
What is Kallmann Syndrome?
A genetic disorder with the association of hypogonadtrophic hypogonadism and anosmia
What is the cause of the X-linked form of Kallman syndrome?
Mutation in KAL gene
What does Kallmann syndrome cause?
Lack of production of hormones relating to sexual development
What is the clinical presentation of Kallmann syndrome?
Synkinesia (mirror image movements)
Renal agensis
Visual problems
Cleft lip
Undescended testes
Hearing loss
Colour blindness
Short fingers or toes
What are some investigations for Kallmann Syndrome?
MRI of hypothalamus, pituitary gland
Molecular genetic testing
FBC and ferritin
Early morning FSH and LH
TFT
Pelvic USS
Brain MRI
What is the treatment for Kallmann Syndrome?
HRT inducing puberty and maintaining normal hormone levels
What is a hypothalamic tumour?
Benign growth in the hypothalamus which can place pressure on the brain
What can a hypothalamic tumour cause?
Seizures
Early puberty
Disruption of hypothalamic functions - blood pressure, body temperature, stress, hunger, sleep wake cycles
What is a syndrome that can have hypothalamic tumours?
Pallister-Hall
What is the presentation of hypothalamic tumours?
Gelastic seizures - laughing without trigger
Problems with concentration, memory and learning
Sudden rage
Early puberty
Age
Extreme or lack of thirst
What is the treatment for hypothalamic tumours?
Surgery - laser ablation
Anti-seizure medications
Endocrine treatments - hormone agonists and replacements
What is CAH?
Congenital adrenal hyperplasia - deficiency of the 21-hydroxylase enzyme
What does CAH cause?
Underproduction of cortisol and aldosterone and overproduction of androgens from birth
What is the inheritance of CAH?
Autosomal recessive
What is the role of glucocorticoid hormones?
Stress
Raise blood glucose
Reduce inflammation
Suppress immune system
What is the role of mineralocorticoid hormones?
Acts on kidneys to control salt and water balance
What is the role of 21-hydroxylase?
Converts progesterone into aldosterone and cortisol
What is the result of a 21-hydroxylase deficiency?
There is extra progesterone that is not converted to aldosterone and cortisol so it is converted to testosterone instead
What is the presentation of CAH?
Ambiguous genitalia
More severe presents shortly after birth with hyponatraemia, hyperkalaemia and hypoglycaemia
What is the presentation of less severe CAH in females?
Tall for their age
Facial hair
Absent period
Deep voice
Early puberty
What is the presentation of less severe CAH in boys?
Tall for their age
Deep voice
Large penis
Small testicles
Early puberty
What is the management of CAH?
Hydrocortisone - cortisol replacement
Fludrocortisone - aldosterone replacement
Corrective surgery for genitals
What is androgen insensitivity syndrome?
Defects in the androgen receptor so cells are unable to respond to androgen
What is the inheritance of Androgen Insensitivity Syndrome?
X linked recessive
What happens in androgen insensitivity syndrome?
Extra androgens are converted to oestrogen resulting in female secondary sex characteristics - patients are genetically male but female phenotypes externally
What are the hormone tests for androgen insensitivity syndrome?
Raised LH
Normal or raised FSH
Normal or raised testosterone
Raised oestrogen
What is the management of androgen insensitivity syndrome?
Bilateral orchidectomy
Oestrogen therapy
Vaginal dilators or vaginal surgery
