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Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome

M J Nowaczyk1, V M Siu, P A Krakowiak

  • 1Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada. nowaczyk@hhsc.ca

American Journal of Medical Genetics
|December 18, 2001
PubMed

Insights

Smith-Lemli-Opitz syndrome (SLOS), a genetic disorder, can cause adrenal insufficiency. A new case reveals a rare combination of adrenal insufficiency and persistent hypertension in severe SLOS patients.

Area of Science:

  • Genetics
  • Biochemistry
  • Endocrinology

Background:

  • Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic disorder.
  • It results from mutations in the 7-dehydrocholesterol reductase (DHCR7) gene.
  • Diagnosis relies on elevated plasma 7-dehydrocholesterol (7DHC) levels.

Observation:

  • Adrenal insufficiency with hyponatremia was previously reported in three severe SLOS patients.
  • These cases responded to mineralocorticoid replacement, suggesting aldosterone deficiency.
  • This report details a fourth severe SLOS patient with adrenal insufficiency.

Findings:

  • The fourth patient presented with unexplained persistent hypertension.
  • This combination of adrenal insufficiency and hypertension is novel in SLOS.
  • This suggests a more complex endocrine presentation in severe SLOS.

Implications:

  • This case expands the known clinical spectrum of Smith-Lemli-Opitz syndrome.
  • It highlights the need for careful endocrine evaluation in SLOS patients.
  • Further research may elucidate the mechanisms linking SLOS, adrenal function, and blood pressure regulation.

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