Adrenal Insufficiency and Abnormal Genitalia in a 46XX Female with Smith-Lemli-Opitz Syndrome

Objective: To report the first case of a 46XX female infant with Smith-Lemli-Opitz syndrome (SLOS), adrenal insufficiency and abnormal genitalia. Methods: The patient was assessed for hormonal status on day 4 and 6 months later and was followed-up from the study time (2.5 years of age). Results: The patient had a persistent urogenital sinus, posterior labial fusion without clitoromegaly. She presented with a salt-wasting syndrome on day 4. Adrenal insufficiency was confirmed. Adrenal androgen levels, including 17-hydroxyprogesterone and 11-deoxycortisol were moderately elevated. Conclusion: Children with SLOS should be assessed for adrenal insufficiency. In female infants, abnormal external genitalia can be observed even if the precise mechanism behind these abnormalities is yet to be determined.

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