Endocrine Abstracts

Salt-losing conditions can be challenging to manage well in infancy and early childhood. We describe a child with both salt-wasting 21-hydroxylase deficiency (SW21OHD) and cystic fibrosis (CF).A male infant, JW, birth weight 3.5 kg, presented with a salt-wasting crisis on day 9 of life with hyponatraemia, hyperkalaemia, and weight loss of 415 g. Serum 17-hydroxyprogesterone (17OHP) was >1000 nmol/l and a diagnosis of SW21OHD was made. Neonatal screen...

Introduction: Hypogonadotrophic hypogonadism (HH) is a genetically heterogeneous disorder. A number of genes have been implicated in its pathogenesis but, to date, in most cases, the cause remains genetically unknown.Case: A 14-year old male with delayed puberty (G1P2A3, testes two males) and family history of HH was diagnosed with HH following anterior pituitary assessment and an overnight gonadotrophin profile. His baseline gonadotrophins were low (LH,...