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Adrenal insufficiency in Smith-Lemli-Opitz syndrome
H C Andersson1, J Frentz, J E Martínez
1Human Genetics Program, Hayward Genetics Center, Tulane University Medical School, New Orleans, Louisiana 70112, USA. handers@tmcpop.tmc.tulane.edu
American Journal of Medical Genetics
|March 9, 1999
Summary
Smith-Lemli-Opitz syndrome (SLOS) can cause adrenal insufficiency, leading to electrolyte imbalances. Early detection and mineralocorticoid replacement may be crucial for treating this manifestation in SLOS patients.
Area of Science:
- Endocrinology
- Genetics
- Metabolic Disorders
Background:
- Smith-Lemli-Opitz syndrome (SLOS) is a genetic disorder caused by impaired cholesterol synthesis.
- Adrenal insufficiency is a condition characterized by the adrenal glands' inability to produce sufficient steroid hormones.
Observation:
- Three unrelated patients with SLOS presented with adrenal insufficiency, including hyponatremia and hyperkalemia.
- Patients exhibited profound cholesterol deficiency and elevated 7-dehydrocholesterol levels.
- Two newborns with SLOS and adrenal insufficiency died shortly after birth due to cardiopulmonary complications.
Findings:
- Adrenal insufficiency, characterized by a decreased aldosterone-to-renin ratio, was identified in all three SLOS patients.
- One patient with SLOS and adrenal insufficiency showed cortisol deficiency.
- Mineralocorticoid replacement therapy successfully managed electrolyte imbalances in a 7-month-old patient with SLOS.
Implications:
- Adrenal insufficiency may be an underdiagnosed manifestation of Smith-Lemli-Opitz syndrome.
- Cholesterol deficiency in SLOS could impair adrenal steroid hormone synthesis.
- Prompt diagnosis and treatment of adrenal insufficiency are vital for improving outcomes in SLOS patients.