Primary adrenal insufficiency in childhood and adolescence: advances in diagnosis and management.
OBJECTIVE
Primary adrenal insufficiency occurring in childhood and adolescence is due to abnormalities of gland development, gland responsiveness, and steroid biosynthesis or target organ response. Causes include autoimmune Addison's disease, tuberculosis, HIV, adrenoleukodystrophy, adrenal hypoplasia congenita and syndromes including triple A and IMAGe. We aimed to define the causes of adrenal insufficiency for a cohort of children in Melbourne.


METHODS
We reviewed the frequency and variety of presentation of primary adrenal insufficiency to the Royal Children's Hospital over the past 10 years through an audit of patient records, collating demographic information, presentation and investigations.


RESULTS
Sixteen cases (13 male, 3 female) of primary adrenal insufficiency were diagnosed at this hospital between January 1993 and July 2003. Median age at presentation was 7.7 years (range: birth to 14.8 years). Symptoms at presentation included weakness, increased pigmentation, abdominal pain, nausea, developmental delay or a reduction in school performance. Four patients presented with adrenal crisis. Median adrenocorticotrophic hormone (ACTH) at diagnosis was 246 pmol/L (range 30-969 pmol/L). Autoantibodies were positive in five patients. Five patients had elevation of very long chain fatty acids. Five patients were diagnosed with autoimmune adrenal insufficiency, five with adrenal hypoplasia congenita, five with adrenoleukodystrophy and one with IMAGe syndrome.


CONCLUSIONS
A high index of suspicion results in earlier detection and possible prevention of adrenal crisis with a reduction in associated morbidities. Definitive diagnosis is now possible for almost all cases of primary adrenal insufficiency using technologies for screening autoimmunity, adrenoleukodystrophy (ALD) and genetic screening.
Simm
P J
PJ
Department of Endocrinology and Diabetes, Royal Children's Hospital, Melbourne, Victoria, Australia.
McDonnell
C M
CM
Zacharin
M R
MR
D000293:Adolescent; D000305:Adrenal Cortex Hormones / Q000172:deficiency*; D000309:Adrenal Insufficiency / Q000097:blood / Q000175:diagnosis* / Q000453:epidemiology / Q000209:etiology / Q000628:therapy*; D000324:Adrenocorticotropic Hormone / Q000172:deficiency; D001323:Autoantibodies / Q000097:blood; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D006801:Humans; D006854:Hydrocortisone / Q000172:deficiency; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008403:Mass Screening / Q000379:methods; D008499:Medical Records; D012083:Renin / Q000172:deficiency; D012189:Retrospective Studies; D018570:Risk Assessment; D012307:Risk Factors; D014739:Victoria / Q000453:epidemiology
D000305:Adrenal Cortex Hormones; D001323:Autoantibodies; D005227:Fatty Acids; D000324:Adrenocorticotropic Hormone; D012083:Renin; D006854:Hydrocortisone