Endocrine Abstracts

Neonatal salt wasting can present in neonates with a life-threatening state of hyponatraemia, hyperkalaemia, dehydration and metabolic acidosis. The differential diagnosis of neonatal salt wasting includes congenital adrenal hyperplasia (CAH) most commonly due to 21-hydroxylase deficiency, pseudohypoaldosteronism (PHA), X-linked adrenal hypoplasia congenital (AHC) and aldosterone synthase defects. Diagnostic work up should include serum measurement of ACTH, Cortisol, 17OH-prog...

A 13 year old female presented with a two day history of abdominal pain and vomiting which responded to analgesia. Pelvic ultrasound showed complex ovarian cysts and a pre-pubertal uterus. Initial blood tests were consistent with hypergonadotrophic hypogonadism (LH 31.5 U/l, FSH 14.3 U/l and oestradiol <70 pmol/l) and karyotype was 46 XX. Bone age was slightly delayed (measured 12.4 years, chronological age 13.7 years). On referral to paediatric endocrinology, the patient ...