Endocrine Presentations

Question 1

What are pubertal problems in paediatrics, how do they present and what is a DDx?

Answer 1

S+S =

• Lack of breast development by age 13
• Lack of pubic hair by age 14
• More than 5 years between breast development and first period
• Delayed period that hasn’t started by age 15
• Breast growth, period, pubic hair, and other signs of puberty occurring before age 7 or 8

DDx = Delayed puberty, precocious puberty, contrasexual pubertal development, premature thelarche, premature adrenarche

Question 2

Outline salt and water balance in paediatrics, how does imbalance present and what is a DDx?

Answer 2

Adrenal cortisol insufficiency (autoimmune, haemorrhage, infarct) = salt-losing crisis, hypotension, hypoglycaemia

S+S = asymptomatic, dark urine, dizziness, tachycardia, dyspnoea, seizures, arrhythmias

DDx = medications, dehydration, D+V, graves disease, kidney disease, adrenal cortisol insufficiency

Question 3

Outline bone and calcium abnormalities in paediatrics, how do they present and list a DDx?

Answer 3

S+S = bone pain, kidney pain, arthralgia, fatigue, depression, hair loss, muscle pain

DDx = Vitamin D deficiency, rickets, parathyroid gland disorder, calcium abnormalities, osteogenesis imperfecta juvenile osteoporosis, infantile osteopetrosis

Question 4

Outline growth hormone deficiency in paediatrics

Answer 4

Pituitary gland fails to produce enough growth hormone during childhood

• many causes idiopathic
• other = tumour, head injury, meningitis, cranial irradiation

Growth slows down or stops from the age of two or three years onwards

Growth hormone therapy is given by daily subcut injection