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Congenital lipoid adrenal hyperplasia in a Saudi infant
Siham Hussein Subki1, Raghad Wadea Mohammed Hussain1, Abdulmoein Eid Al-Agha1
11Pediatrics Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
Insights
Congenital lipoid adrenal hyperplasia (CLAH) can cause unexpected dark skin in newborns. Early diagnosis and treatment are crucial to prevent adrenal crisis in infants with this rare genetic disorder.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Background:
- Congenital lipoid adrenal hyperplasia (CLAH) results from STAR gene mutations, impacting all steroidogenesis.
- CLAH presents with severe adrenal insufficiency and unique phenotypic features.
Purpose of the Study:
- To report the first case of CLAH in Saudi Arabia.
- To highlight the association between unusual dark skin and adrenal insufficiency in neonates.
Main Methods:
- Clinical presentation of a 46 XY infant with phenotypical features of CLAH.
- Biochemical evaluation and diagnosis of CLAH.
- Initiation of glucocorticoid replacement therapy.
Main Results:
- The infant presented with a darkened complexion, atypical for the family.
- CLAH was diagnosed based on clinical and biochemical findings.
- Glucocorticoid therapy was successfully initiated.
Conclusions:
- Unusual dark skin in neonates warrants investigation for adrenal insufficiency.
- Pediatricians should consider CLAH in infants with unexplained hyperpigmentation.
- Early detection and intervention are vital to manage CLAH and prevent adrenal crisis.
Summary:
Congenital lipoid adrenal hyperplasia (CLAH) is characterized by a defect in the STAR protein-encoding gene that attenuates all steroidogenesis pathways. Herein, we present the first reported case in Saudi Arabia of a 46 XY, phenotypically female infant with an unfamiliar, darkened complexion compared to the family's skin color. Based on the clinical and biochemical findings, CLAH was diagnosed and glucocorticoid replacement therapy was initiated. As a result, we suggest that pediatricians should always investigate the possibility of adrenal insufficiency when encountering unusual dark skin.
Learning Points:
Pediatricians should be prompted to rule out adrenal insufficiency in unexpectedly dark skin neonates. In such patients, pediatricians should not wait until the neonate develops an adrenal crisis. A low level of 17-hydroxyprogesterone does not always rule out the possibility of inherited adrenal gland disorders, and additional tests should be performed for early detection.
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