Paeds Cases · endocrinology-diabetes-and-growth
Congenital adrenal hyperplasia — structured clinical encounter
Structured encounter testing the approach to a genitally normal male neonate who collapses with salt-wasting at two weeks: the diagnosis, the hydrocortisone-first resuscitation, the confirmatory work-up, and parent communication about a missed screen and lifelong treatment.
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Station brief (candidate)
You are the paediatric registrar. A term male infant who passed his newborn bloodspot screen and was well at discharge returns at two weeks of age with three days of poor feeding and vomiting, and is now lethargic and mottled. The team asks you to make the diagnosis, deliver the immediate resuscitation, arrange the investigations, and speak with the parents. You have 12 minutes with the team and 5 minutes for examiner discussion. [4]
References5ShowHide
- [1]Speiser PW; Azziz R; Baskin LS; et al Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab, 2010.PMID 20823466
- [4]Bornstein SR; Allolio B; Arlt W; et al Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab, 2016.PMID 26760044
- [5]Gidlöf S; Wedell A; Guthenberg C; et al Nationwide neonatal screening for congenital adrenal hyperplasia in Sweden: a 26-year longitudinal prospective population-based study. JAMA Pediatr, 2014.PMID 24733564
- [8]Sarafoglou K; Banks K; Kyllo C; et al Cases of congenital adrenal hyperplasia missed by newborn screening in Minnesota. JAMA, 2012.PMID 22692165
- [9]New MI; Abraham M; Gonzalez B; et al Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Proc Natl Acad Sci U S A, 2013.PMID 23359698