Steroid-sulfatase precursor

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.

Sheffield et al. (1998) reported mutation analysis on 16 males and 2 females with what they classified as the symmetric type of chondrodysplasia punctata, including individuals from 3 multigeneration families. Mutations in ARSE were found in 3 males. No mutations were detected in the ARSD gene. Family studies showed segregation of the mutations with phenotype, establishing X-linked inheritance in the families. Asymptomatic females and males were found in these studies. Sheffield et al. (1998) concluded that clinical presentation varied not only between unrelated affected males but also between affected males within the same family, and that the clinical diagnosis of chondrodysplasia punctata in adults can be difficult. Sheffield et al. (1998) also discussed the nosology of the chondrodysplasia punctata group.

5 alpha-dihydrotestosterone is known to play a crucial part in the regulation of hair growth and in the development of androgenetic alopecia. 5 alpha-dihydrotestosterone is formed locally within the hair follicle from the systemic precursor testosterone by cutaneous steroid 5 alpha-reductase. Moreover, adrenal steroids such as dehydroepiandrosterone are converted to 5 alpha-dihydrotestosterone by isolated hair follicles, which may provide an additional source of intrafollicular 5 alpha-dihydrotestosterone levels. Elevated urinary dehydroepiandrosterone and serum dehydroepiandrosterone sulfate have been reported to be present in balding young men. These reports suggest that dehydroepiandrosterone sulfate may act as an important endocrine factor in the development of androgenetic alopecia. Hence the question arises whether the dehydroepiandrosterone sulfate can be metabolized within the hair follicles to yield dehydroepiandrosterone by the microsomal enzyme steroid sulfatase, and where steroid sulfatase might be localized. We therefore performed immunostaining for steroid sulfatase on human scalp biopsies as well as analysis of steroid sulfatase enzyme activity in defined compartments of human beard and occipital hair follicles ex vivo. Using both methods steroid sulfatase was primarily detected in the dermal papilla. Steroid sulfatase activity was inhibited by estrone-3-O-sulfamate, a specific inhibitor of steroid sulfatase, in a concentration-dependent way. Furthermore, we show that dermal papillae are able to utilize dehydroepiandrosterone sulfate to produce 5 alpha-dihydrotestosterone, which lends further support to the hypothesis that dehydroepiandrosterone sulfate contributes to androgenetic alopecia and that steroid sulfatase inhibitors could be novel drugs to treat androgen-dependent disorders of the hair follicle such as androgenetic alopecia or hirsutism.

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

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.

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