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Endocrine Abstracts (2013) 32 P282 | DOI: 10.1530/endoabs.32.P282


1Clinical Section of Endocrinology, University of Medicine and Pharmacy, Targu Mures, Romania; 2Private Pediatric Ambulatory Unit, Targu Mures, Romania; 3Institute for Mother and Child’s Protection, Bucharest, Romania.

Smith–Lemli–Opitz syndrome (SLOS) is a 46,XY disorder of sex development, included in the subgroup of disorders in androgene synthesis. The disease is caused by mutations of 7-dehydrocholesterol reductase (DHCR7) gene, conducting to deficient synthesis of the correspondent enzyme and of cholesterol, with important role in embryogenesis, adrenal and gonadal steroidogenesis. Clinical manifestations includ facial dysmorphism, syndactyly, ambiguous external genitalia and visceral malformations.

We present the case of an infant born by cesarean section for fetal suffering (Apgar score 8/1′–8/5′), with multiple malformations (dysmorphic face, polydactyly, syndactyly, hypospadias, cryptorchidism) detected already at birth. Investigations diagnosed small atrial septal defect and corpus callosum agenesis was suspected. The clinical examination at 4 months of age showed growth failure, dysmorphic face, bilateral ptosis and epicantus, generalized muscle hypotony, asymmetrical polydactyly (complete on right hand, partial on left hand), bilateral “Y” shaped syndactyly of the second and third toes, micropenis, hypospadias, small scrotum, cryptorchidism, neuro-reflexo-motorical developmental level of 1 month, psychical and verbal developmental level 2–3 months. Normal cortisol at baseline (17.18 μg/dl, n: 6.4–21), low total testosterone (0.74 ng/ml) and DHEA-S (3.1 μg/dl, n: 3.4–123.6), high LH (5.22 mIU/ml, n: 0.5–4) were measured. Cholesterol was reduced (total cholesterol 79 mg/dl, HDL-cholesterol: 9.2 mg/dl), and in context of dysmorphic facies and anomaly of external genitalia the suspicion of SLOS rises. The karyotype is 46,XY 1qh+. Mutation analysis of DHCR7 gene (chromosome 11q13.2–q13.5) identified two heterozygous mutations: c.452G>A (p.Trp151X) and c.278C>T (p. Thr93Met), this case being the first genetically confirmed SLOS in our country. An adequate diet, neurological recuperation, neurotrophic treatment, and endocrino-metabolic follow-up was recommended.

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