Paeds Vivas · endocrinology-diabetes-and-growth
Disorders of sex development — branching viva
Branching viva on disorders of sex development: excluding a salt-wasting adrenal crisis before reaching for a label, classifying with the Chicago framework built from the karyotype, confirming with a karyotype and a 17-hydroxyprogesterone first, deferring non-consent cosmetic surgery, and managing both the neonatal emergency and the adolescent presentation of complete androgen insensitivity.
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Opening question
A two-week-old infant recorded as male with severe hypospadias and bilaterally impalpable gonads presents with vomiting, dehydration, hyponatraemia, hyperkalaemia, and hypoglycaemia. What is the diagnosis, which bedside finding at birth should have oriented the team, and what is your immediate plan? [11] [1]
References4ShowHide
- [1]Hughes IA, Houk C, Ahmed SF, Lee PA, et al. Consensus statement on management of intersex disorders. Arch Dis Child, 2006.PMID 16624884
- [3]Lee PA, Nordenström A, Houk CP, et al. Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care. Horm Res Paediatr, 2016.PMID 26820577
- [7]Wisniewski AB, Batista RL, Costa EMF, et al. Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life. Endocr Rev, 2019.PMID 31365064
- [11]Speiser PW, Arlt W, Auchus RJ, et al. Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab, 2018.PMID 30272171