endocrine

Question 1

elevated deoxycorticosterone levels, hypertension and amenorrhea/delayed puberty

Answer 1

17 a hydroxylase deificiency

Question 2

elevated 17 a hydroxyprogesterone levels

Answer 2

21 hydroxylase deficiency

Question 3

elevated 11 deoxycorticosterone, hypertension and ambiguous genitalia

Answer 3

11 a hydroxylase deificiency

17 a hydroxylase also have elevated 11 deoxycorticosterone but has delayed puberty and amenorrhoea

Question 4

premature letharche vs normal variant in an infant

Answer 4

premature letharche is premature development of breast buds without other signs of pubertal development
normal variant is incrase in breast tissue without development of breast bud
both require reassurance. premature letharche is different from precocious puberty as it only affects breast buds and doesnt require further work up.

Question 5

breast fed infant presents with seizure, hypertonia, elevated PTH, low ca and po4. ?diagnosis

Answer 5

vitamin D deficiency

Question 6

electrolyte abnormality found in vitamin D deficiency in an infant

Answer 6

elevated PTH
low Ca
low PO4