Endocrinology Flashcards
Define maturity onset diabetes of the young
Genetic defects of beta cell function
Define neonatal dm
Monogenic form of dm: single gene mutation
Eg glucokinase deficiency, agenesis of pancreas, chromosome KCNJ11 or ABCC8 defect
Name 2 drugs that can cause diabetes
- Cyclosporine
- glucocorticoids
Name 3 causes secondary dm
Exocrine pancreatic destruction by
- Cystic fibrosis
- hypoxia
- Pancreatitis
Name 4 biochemical criteria of DkA
- Hyperglycemia 11,1 or more
- Venous ph < 7,3
- serum bicarb <15
- ketonuria
Name 2 symptoms hypoglycaemia
- Neurogenic (adrenergic): sympathetic drive - pallor, sweating, anxiety, tremor, palpitations
- Neuroglycopenia: central neurological symptoms - hunger, irritability, confusion, coma, convulsions
Approach to obese child?
Suspect syndrome obesity (short and obese )
→ karyotype, methylation studies
Suspect endocrine disorder (short and obese), consider:
- Cushing syndrome
- Hypothyroid
- growth hormone deficiency
Suspect none of the above (tall and obese)
→ simple/nutritional obesity
Name 5 investigations for obese child
- Fasting and 2 hour post glucose levels, insulin levels
- fasting lipid panel
- thyroid function tests
- Bone age
- Karyotype if suspect syndromic
Name 9 complications childhood obesity
- Psychosocial: poor self esteem, eating disorders
- pulmonary: sleep apnoea, reactive airway disease
- git: gallstones, decrease Vit D and iron concentrations
- renal: glomerulosclerosis
- musculoskeletal: SUFE, Blount’s, forearm fracture, flat feet, lower limb malalignament, increased prevalence osteoarthritis
- neuro: pseudotumor cerebri, increased prevalence idiopathic intracranial ht
- CVS: dyslipidaemia, coagulopathy,
- skin: acanthosis nigricans, intertrigo, furunculosis, hidradenitis suppurativa
- endocrine: precocious puberty, hypogonadism boys, accelerated linear growth, advanced bone age, DM 2
Name 10 clinical features of congenital hypothyroid
Abdo
- Umbilical. Hernia
- constipation
- feeding problems
General
- hypothermia
- prolonged jaundice
- pale, mottled, dry skin
Head and neck
- coarse facial features
- macroglossia
- goitre occasionally
Neuro
- hypotonia
- wide posterior fontanelle
- hoarse cry
- developmental delay
Name 10 clinical features of acquired hypothyroid
- Short stature
- obesity
- goitre
- puffy eyes with loss lateral third eyebrows
- constipation
- delayed puberty
- slow relaxing reflexes
- Deterioration in school work, learning difficulty
- cold peripheries and intolerance
- dry skin
- bradycardia
Name 5 causes of congenital hypothyroid
- 85% thyroid dysgenesis: aplasia, hypoplasia, ectopic gland
- dyshormogenesis 15%
- ingestion goitrogens / maternal drugs: iodine containing cough mixtures, antithyroid drugs
- Tsh receptor defect
- secondary or tertiary: TRH and tsh deficiency
Name 9 causes of acquired hypothyroid
Primary
- Iodine deficiency
- Autoimmune thyroiditis
- goitrogens
- antithyroid drugs
- thyroid surgery
- Neck irradiation
Secondary or tertiary
- craniopharyngioma/other tumours
- cranial irradiation
- neurosurgery
Name 8 clinical features hyperthyroid
SWEATING
Sweating,
Weight loss
Emotional lability
Appetite increase
Tremor/tachycardia
Intolerance heat, irregular menstruation, irritability
Nervousness
Goitre and gastrointestinal problems (diarrhea)
Name 9 causes hyperthyroid in children
- Graves = 95%!
Other rare
- activating mutations of tsh receptor
- mccune Albright syndrome
- toxic adenoma
- toxic multi nodular goitre
- hashitoxicosis
- lymphocytic thyroiditis
- subacute thyroiditis
- Tsh secreting pituitary adenoma
Treatment graves
Medical therapy with carbimazole first choice
Only if failed, consider radioactive iodine and lastly surgery
How classify disorders of sex development (dsd)? (4)
46 xx DSD
- disorders of ovarian development
- fetal androgen excess
46 xy DSD
- Disorders of testicular development
- disorders of androgen synthesis / action
Investigations for DSD? (4)
- Genetics: Karyotype or qf PCR, sry gene
- hormones: serum 17OH progesterone, cortisol, testosterone, estradiol, DHEAS, androstenedione, lh, FSH, anti - mullerian hormone
- serum electrolytes!
- ultrasound abdomen and pelvis
Clinical findings congenital adrenal hyperplasia? (2)
- Neonate with virilisation at birth
- male neonate with vomiting and dehydration
Biochemical findings congenital adrenal hyperplasia? (5)
- hypo Na
- hyper K
- metabolic acidosis
- elevated 170H progesterone
- low serum cortisol
Management congenital adrenal hyperplasia? (2)
Emergency: iv hydrocortisone and 0,9% iv ns
Maintenance: hydrocortisone with or without fludrocortisone
Define normal puberty
Girls 8-13 years
Boys 9 -14
Define precocious puberty
Any signs of secondary sexual maturation
Girls<8
Boys < 9 years
Name and define the 2 types of precocious puberty (5)
Central precocious puberty/ gonadotropin dependent
- premature activation hpG axis
- More common in girls, idiopathic in > 90%
- boys: high incidence intracranial pathology - do MRI brain
Peripheral precocious puberty/ gonadotropin independent
- secondary sex characteristics from increased sex steroid activity
- a number of tumours may secrete sex hormones, require referral for specialist opinion.
Name 4 causes central precocious puberty
- Idiopathic
- CNS tumors
- septo-optic dysplasia
- neurofibromatosis
Name 4 causes peripheral precocious puberty
- mccune Albright syndrome
- testicular/ ovarian tumours
- adrenal tumours
- liver tumours
Define and classify delayed puberty
Absent signs puberty at girl >13 or boy >14
- Temporary disorders: constitutional delay in growth and puberty, chronic disease or nutritional disorders
- Permanent: hypo or hyper gonadotrophic hypogonadism
Name 2 normal variants of early puberty
- Premature thelarche: isolated unilateral/ bilateral breast enlargement with no other signs precocity, occur commonly infants / preschool girls. Usually benign self limited
- Premature adrenarche: early appearance sexual hair without other signs. Early maturational event of adrenal androgen production.
Name 6 common causes short stature
- Normal variation: familial, constitutional
- Genetic / chromosomal/ congenital: turner syndrome, noonan syndrome, prader willi, Russel silver syndrome (proportionate dysmorphic features)
- skeletal dysplasia: achondroplasia/ hypochondroplasia (dysproportionate dysmorphic features)
- chronic systemic disorders eg IBD, coeliac disease, severe asthma (short and thin)
- endocrine eg untreated hypothyroid , growth hormone deficiency, cushings, hypopituitary (short and fat )
- emotional/ psychosocial deprivation (short and thin)
Name 5 basic investigations for short stature
- FBC: screen for anemia, which could indicate chronic illness
- UCE, LFT, bone profile: screen for renal and hepatic disease
- ESR, CRP: screen IBD
- TFT: screen hypothyroid
- coeliac antibodies
Name absolute indication for growth hormone treatment
Hypopituitarism
Most accurate test of thyroid function?
Tsh
Name complication DkA
Cerebral oedema
Name genetic cause tall stature
Manfan syndrome
