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[Smith-Lemli-Opitz Syndrome; endocrinologic study (author's transl)]

M T Muñoz Calvo, M J Ceñal González, I Parra Martínez

    Anales Espanoles De Pediatria
    |November 1, 1981
    PubMed
    Summary
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    This case study details an 8-year-old boy with Smith-Lemli-Opitz syndrome, presenting typical features and neurological findings. Hormonal analysis revealed an enhanced response in the thyrotropin-releasing hormone (TRH) stimulation test.

    Area of Science:

    • Genetics and rare diseases
    • Pediatric endocrinology
    • Neurodevelopmental disorders

    Background:

    • Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by a defect in cholesterol biosynthesis.
    • SLOS presents with a wide spectrum of clinical manifestations, including intellectual disability, dysmorphic features, and behavioral problems.
    • Genetic counseling is crucial for families with SLOS due to the consanguinity in this reported case.

    Observation:

    • An 8-year-old boy from related parents presented with characteristic clinical features of Smith-Lemli-Opitz syndrome.
    • Diagnostic evaluations included a normal male karyotype, specific dermatoglyphic patterns (distal axial triradii, increased whorls), and cerebral CT showing a left hemisphere hypodensity.
    • The patient exhibited normal follicle-stimulating hormone (FSH) and luteinizing hormone (LH) secretion.

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    Findings:

    • Thyroid-stimulating hormone (TSH) and prolactin (PRL) secretion showed an enhanced response to thyrotropin-releasing hormone (TRH) stimulation.
    • Growth hormone (GH) response to insulin-induced hypoglycemia and L-arginine was within normal physiological limits.
    • These findings highlight specific endocrine responses in SLOS, particularly concerning the hypothalamo-pituitary axis.

    Implications:

    • This case contributes to understanding the neuroendocrine profile in Smith-Lemli-Opitz syndrome.
    • Further research into the hypothalamo-pituitary axis function in SLOS may reveal novel therapeutic targets.
    • Detailed case reports are vital for characterizing the phenotypic variability and management strategies for rare genetic disorders.