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Two Girls With Adrenal Insufficiency and Failing Gonads.
Sarah Wing-Yiu Poon1, Raymond Hang-Wun Li2, Joanna Yuet-Ling Tung3
1Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong, China.
JCEM Case Reports
|November 1, 2023
Summary
Congenital lipoid adrenal hyperplasia (CLAH) can present atypically in neonates. Early diagnosis is crucial, even when patients develop hypergonadotropic hypogonadism during puberty.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Background:
- Congenital lipoid adrenal hyperplasia (CLAH) is a rare genetic disorder.
- It results from mutations in the steroidogenic acute regulatory (StAR) gene.
- CLAH typically causes adrenal insufficiency and female external genitalia in infants.
Observation:
- Two Chinese patients presented with neonatal salt wasting and normal female genitalia.
- CLAH diagnosis was delayed until puberty due to hypergonadotropic hypogonadism.
- One patient had a 46XY karyotype and underwent gonadectomy; the other developed gonadal insufficiency and ovarian complications.
Findings:
- Atypical presentations of CLAH can include delayed diagnosis.
- Sex reversal is a possibility in newborns with adrenal insufficiency and ambiguous genitalia.
- CLAH diagnosis requires careful clinical and laboratory evaluation, including imaging.
Implications:
- Recognizing atypical CLAH features in neonates is vital for timely management.
- Consider CLAH and sex reversal in newborns with adrenal insufficiency and female-appearing genitalia.
- Accurate diagnosis necessitates comprehensive assessment of pelvic organs and hormonal profiles.
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