Steroid-sulfatase precursor

The neonatal type is the most severe form, with signs and symptoms appearing soon after birth. Affected individuals have deterioration of tissue in the nervous system (leukodystrophy), which can contribute to movement problems, seizures, developmental delay, and slow growth. They also have dry, scaly skin (ichthyosis) and excess hair growth (hypertrichosis). Skeletal abnormalities can include abnormal side-to-side curvature of the spine ( scoliosis ), joint stiffness, and dysostosis multiplex, which refers to a specific pattern of skeletal abnormalities seen on x-ray. Individuals with the neonatal type typically have facial features that can be described as " coarse ." Affected individuals may also have hearing loss, heart malformations, and an enlarged liver and spleen (hepatosplenomegaly). Many of the signs and symptoms of neonatal multiple sulfatase deficiency worsen over time.

XLI can be suspected based on clinical findings, although symptoms can take varying amounts of time to become evident, from a few hours after birth, up to a year in milder cases. The diagnosis is usually made by a dermatologist , who also typically formulates the treatment plan (see below). STS enzyme deficiency is confirmed using a clinically available biochemical assay. Carrier detection can be performed in mothers of affected sons using this test (see Genetics, below). [10] Molecular testing for DNA deletions or mutations is also offered, and can be particularly useful in the evaluation of individuals with associated medical conditions (see below). Prenatal diagnosis is possible using either biochemical or molecular tests. However, the use of prenatal diagnosis for genetic conditions that are considered to be generally benign raises serious ethical considerations and requires detailed genetic counseling.

Shapiro and Yen (1987) responded to the suggestion that the condition in these patients may represent a microcytogenetic disorder ( Schmickel, 1986 ). They stated that homologous but nonfunctional sequences of STS were found on the long arm of the Y chromosome in the patients of Sunohara et al. (1986) . Indeed, they found a complete deletion of the STS gene with continued presence of MIC2 ( 313470 ) sequences, which are located more distally on the X chromosome, in both the X and Y chromosomes. In studies of 9 unrelated patients with simple X-linked ichthyosis, they found 7 with complete deletion of the STS gene and 1 with a partial 5-prime deletion. Only 1 subject had an intact STS gene.

Steroid-sulfatase precursor

steroid-sulfatase precursor

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