Endocrinology part 2 Flashcards
What is a precocious and delayed puberty?
Precocious - development secondary sexual characteristics before age 8 in girls and age 9 in boys.
Delayed - Absence of secondary sexual characteristics by age 13 in girls and 14 in boys.
Causes of precocious puberty?
Gonadotrophin dependent (early but nomral) - idiopathic or CNS abnormality eg, brain tumour.
Gonadotrophin independent (abnormal pattern) - Congenital adrenal hyperplasia, Cushing’s syndrome, sex steroid secreting tumours or McCune - Albright syndrome
Causes of delayed puberty?
Hypogonadotrophic hypogonadism - constitutional delay, hypothalamic or pituitary disorder, syndromes eg, Kallmann or Prader- Willi, systemic disease or starvation, hypothyroidism.
Hypergonadotrophic hypogonadism - Variation of sex differentiation, syndromes eg, Kleinfelters or Turners. Testicular or ovarian damage eg, trauma, torsion or orchitis.
Clinical presentation of Cushing’s syndrome in paeds?
Faltering growth,
Truncal obesity,
Buffalo hump,
Rounded face,
Signs of virilization, striae and skin thickening,
Hypertension,
Hyperglycaemia,
Mood and behavioral disturbance.
Investigations and treatment same as adults.
Causes of congenital hypothyroidism?
Developmental defects,
Dyshormonogenesis,
Congential pituitary lesions,
Transient congenital hypothyroidism - if mum has thyroid disease.
Maternal iodide def
Presentation of hypothyroidism in paeds
Prolonged neonatal jaundice,
Sleepiness,
Feeding problems,
Constipation,
Umbilical hernia
Bradycardia and poor peripheral perfusion,
Coarse faces, wide posterior fontanelle and large tongue.
Hypotonia and learning difficulties,
Goitre.
Acquired hypothyroidism presents similarly to adult
Presentation of T2DM in Paeds?
Presents insidiously with few symptoms in adolescents.
Generally mild polyuria and polydipsia.
Causes of polydipsia in children?
Poor fluid intake,
Excessive exercise,
Psychogenic polydipsia,
Diabetes insipidus,
Diabetes mellitus,
Hypercalcaemia,
Hyperthyroidism
What is Phenylketonuria?
Autosomal recessive condition caused by disorder of phenylalanine metabolism. Results in high levels of pheylalanine which causes learning difficulties and seizures
Signs and symptoms of phenylketonuria?
Seizures,
Poor growth,
Hypopigmentation leading to fair skin and hair,
Musty or mouse-like body odour.
Long term - intellectual impairment, seizures, hyperactivity and increased risk of eczema
Diagnosis and management of phenylketoneuria?
Diagnosis - Guthrie test - heel prick blood test. Also look for hyperphenylalaninaemia or phenylpyruvic acid in urine.
Treatment is diet manipulation
Describe features of Galactosaemia
Autosomal recessive condition where body cannot metabolise galatose into glucose leading toxic accumulation in the blood.
Presents within first 1-2 weeks of life with diarrhoea, vomiting, lethargy and hypotonia.
What is Maple Syrup Urine disease?
Autosomal recessive condition where there is defect in enzyme which breaks down branched amino acids. Accumulation of these amino acids in blood and urine. Presents with lethargy, poor feeding, irritiability and progression to seizures, coma and development of focal neurological signs;.
Presentation of Turner’s syndrome?
Short stature,
Shield chest, widely spaced nipples,
Webbed neck,
Bicuspid aortic valve,
Coarctation of the aorta with increased risk of aortic dilatation and dissection,
Primary amenorrhoea,
Cystic hydroma,
High arches palate,
Short fourth metacarpal,
Lymphodema in neonates
Gonadotrophin levels elevated
What is androgen insensitivity syndrome and its presentation?
X linked recessive condition due to end organ resistance to testosterone resulting in 46XY male children to have female phenotype.
Presents with primary amenorrhoea, little to no axillary or pubic hair, undescended testes causing groin swellings and breast development (conversion of testosterone to oestrogen)
