[source]
pmid = PMID:28503313
title = Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development
[diagnosis]
disease_id = OMIM:270400
disease_label = Smith-Lemli-Opitz syndrome
[text]
The patient was born at 38 weeks of gestation to non-consanguineous Japanese parents. Birth weight, length and head
circumference were 2,59Z g (−0.92 s.d.), 45 cm (−1.7 s.d.) and 33 cm (−0.1 s.d.), respectively.
Ambiguous genitalia, low set ears, a short nose and Y-shaped 2–3 toe syndactyly were detected at birth (Figure 1a and b).
Examination of the patient’s genitalia revealed a micropenis (stretch length: 1.5 cm),
left lateral testicular hypoplasia (right and left diameters: 10 and 5 mm, respectively), hypospadias and a bifid scrotum (Figure 1c).
Echography and magnetic resonance imaging failed to detect the presence of a uterus or ovaries.
Blood examination revealed a relatively low total cholesterol (T. Chol) level (46 mg/dl) (reference: 129–232),
normal testosterone and slightly low anti-mullerian hormone level for males.
Urine steroid profile was normal.
G-banding analysis confirmed a normal 46,XY male karyotype. From these results, the patient was recorded in public office documents as male.
We performed cholesterol analysis with high-performance liquid chromatography.
This analysis revealed relative hypocholesterolemia and high 7-DHC and 8-dehydrocholesterol levels in the patient and normal levels
(undetectable) in his parents (Table 1). T.
Chol/7-DHC was significantly lower in the patient than in his parents.
Therefore, he was biochemically diagnosed with SLOS.
The patient also presented with allergies for milk and eggs, and eczema throughout his body.
His eczema, considered to be atopic dermatitis, was treated with corticosteroid ointment.