Paeds - Endocrine Flashcards
CAH aetiology
Autosomal recessive
21-hydroxylase deficiency - 95%
11-beta-hydroxylase deficiency - 5%
Aldosterone - LOW
Cortisol - LOW
Androgens ^^
CAH presentation
Low aldosterone
- Hyponatraemia
- Hyperkalaemia
- Hypotension
Low cortisol
- Hypoglycaemia
- ACTH ^
Androgens ^
- Virilisation in females
- Clitoral hypertrophy
- Precocious puberty
CAH investigations and management
Bloods
- Hyponatraemia
- Hyperkalaemia
- ACTH ^
- Hypoglycaemia
17 alpha hydroxyprogesterone ^
ABG - Metabolic acidosis
USS - Adrenals
Fludrocortisone
Hydrocortisone
Congenital hypothyroidism aetiology
Primary
- Thyroid dysgenesis
- Absent
- Hypoplasia
- Dyshormonogenesis
Secondary
- Lack of iodine
Congenital hypothyroidism presentation
Jaundice
Distended abdomen
Umbilical hernia
Hypotonia
Hypothermia
Myxoedema
Macroglossia
Large forehead
Congenital hypothyroidism investigations / management / complications
Guthrie heel prick test
TSH ^
T4 - LOW
Management - Levothyroxine
Complications
- Intellectual impairment
- Developmental delay
- Short stature
- Delayed sexual maturity
Factors affecting birth weight
Maternal and paternal weight
Maternal pathology
- Diabetes - Large
- Smoking - Small
Genetics - Syndromes
Prematurity
Short stature aetiology
Familial
IUGR
Constitutional delay
Endocrine
- Cushing’s
- Hypothyroid
- GH deficiency
Nutrition
- Coeliac
- Crohn’s
Psychological - Child abuse
Chromosomal
- Turner
- Noonan
- Downs
Short stature investigations
Plot height and weight
Bone age
FBC - Anaemia
Creatinine
TSH - Hypothyroid
Anti-TTG
Growth hormone
Dex suppression
Tall stature
Familial Kleinfelters Marfan's Hyperthyroid Androgen excess
Female puberty
Breast development
Growth spurt
Pubic hair
Menarche last
Delay > 13
Early < 8
Male puberty
Testicular enlargement
Growth spurt - 18 months from onset
Delay > 14
Early < 9
Precocious puberty classification
Gonadotropin dependent
- Premature activation of hypothalamic pituitary axis
- FSH/LH ^
- Tumour, infection, hypothyroidism
Gonadotropin independent
- Excess androgens
- FSH/LH - LOW
- Exogenous steroids, CAH, ovarian/testicular tumour
Precocious puberty cause
Males
- Usually organic
- Testes enlargement?
- Bilateral - Gonadotropin release
- Unilateral - Gonadal tumour
- Small - Adrenal cause
Females
- Usually idiopathic
- Diagnosis using USS
Delayed puberty aetiology and investigations
Short stature
- Turner’s
- Noonan
- Prader-Willi
Normal stature
- Klinefelter’s
- Kallmann
- PCOS
- Androgen insensitivity
Investigations
- Bone age measurement
- FSH/LH
- Females - USS pelvis
