Paeds Vivas · endocrinology-diabetes-and-growth
Congenital adrenal hyperplasia — branching viva
Branching viva from the salt-wasting-versus-virilisation split, through the genitally normal male who collapses at two weeks, the virilised 46,XX newborn, the 17-OHP screen and its pitfalls, and lifelong replacement with stress dosing.
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Study tools
Target exams
RACP General PaediatricsRACP DCEMRCPCH ClinicalRCPSC Pediatrics
Prompt
You are the paediatric registrar on the postnatal ward and the children's ward. The midwife asks you to assess three infants: a genitally normal boy who is vomiting at two weeks, a newborn with clitoromegaly and fused labia, and a school-age child on hydrocortisone who has a fever and is vomiting. The examiner releases information in stages.
Station opening
Examiner: "Tell me the single bedside concept that frames every neonate with suspected congenital adrenal hyperplasia, and why it matters." [1]
Strong candidate (must-hit)
- The concept is the enzyme block: a 21-hydroxylase deficiency starves the body of cortisol (and usually aldosterone) and shunts the spare steroid precursors into androgens. At the bedside that means three things at once — a salt-wasting crisis, cortisol-deficient shock, and virilisation. It matters because the 46,XX infant is flagged by her genitalia while the 46,XY infant has no genital clue and collapses at one to three weeks, and the window to recognise and treat is narrow. [1]
Weak candidate
- "We measure 17-hydroxyprogesterone on the bloodspot." [1]
References6ShowHide
- [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
- [10]Houk CP; Hughes IA; Ahmed SF; et al Summary of consensus statement on intersex disorders and their management. Pediatrics, 2006.PMID 16882833