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.


CONCLUSIONS
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.
Chemaitilly
W
W
Paediatric Endocrinology Unit, Hôpital Necker-Enfants Malades, Paris, France.
Goldenberg
A
A
Baujat
G
G
Thibaud
E
E
Cormier-Daire
V
V
Abadie
V
V
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000628:therapy; D000309:Adrenal Insufficiency / Q000151:congenital*; D000324:Adrenocorticotropic Hormone / Q000097:blood; D000728:Androgens / Q000097:blood; D005260:Female; D005835:Genitalia / Q000002:abnormalities*; D006801:Humans; D006947:Hyperkalemia / Q000097:blood / Q000151:congenital*; D007010:Hyponatremia / Q000097:blood / Q000151:congenital*; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D007621:Karyotyping; D012083:Renin / Q000097:blood; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D014564:Urogenital Abnormalities / Q000175:diagnosis
D000728:Androgens; D000324:Adrenocorticotropic Hormone; D012083:Renin