Effect of steroid sulfatase sts on sex selective disorders. A translocation chromosome is segregating in this newfoundland kindred. Xlinked ichthyosis with sterylsulfatase deficiency. Due to location of the sts gene within a small region of the x chromosome that escapes xinactivation lyonization, recessive xli affects almost exclusively. Deletions of this region can be associated with cognitive behavioural difficulties including autism. The girl is the first child of healthy, nonconsanguineous parents. Previously, xlinked ichthyosissteroid sulfatase deficiency has been associated with developmental and neurological phenotypes. Multiple sulfatase deficiency is a condition that mainly affects the brain, skin, and skeleton. The topic steroid sulfatase deficiency disorder you are seeking is a synonym, or alternative name, or is closely related to the medical condition xlinked recessive ichthyosis. This paper summarises the relevant literature and describes a case in which biochemical tests were used for the antenatal diagnosis of steroid sulphatase deficiency.
Hence,wehaveassayed this enzymein peripheral bloodleukocytes ofnormal persons and ofpatients with rxli. Somatic and germinal mosaicism for the steroid sulfatase gene. Xlinked ichthyosis xli steroid sulfatase deficiency is caused by deletions or point mutations of the steroid sulfatase sts gene on chromosome xp22. Steroid sulfatase deficiency and the genetics of the short. Steroid sulfatase stsdeficient xlinked ichthyosis was diagnosed in a man with short stature and mental retardation. Steroid sulfatase of human leukocytes epidermis diagnosis.
Multiple sulfatase deficiency prognosis what is the prognosis if you have multiple sulfatase deficiency. Multiple sulfatase deficiency with neonatal manifestation. Mosaicism for the steroid sulfatase gene has not yet been reported in xlinked ichthyosis. Major symptoms include mildly coarsened facial features, deafness, and an enlarged liver and spleen hepatosplenomegaly. Cognitive, behavioural and psychiatric phenotypes associated. In addition, it is possible that cofactors of sts could exhibit age and sex steroid dependent changes. Cognitive, behavioural and psychiatric phenotypes associated with. Symptoms of the following disorders may be similar to those of xlinked ichthyosis.
Linkage analysis has been carried out in nine unrelated families segregating for xlinked ichthyosis steroid sulfatase deficiency using seven polymorphic dna markers from the distal xp. Sulfatase modifying factor 1 is responsible for the posttranslational modification of a highly conserved cysteine residue to a unique formylglycine residue in the active site of the sts enzyme that is crucially required for catalytic activity. Rxli patients show scales on their skin caused by high concentrations of cholesterol sulfate cs, as they are not capable. Roles of steroid sulfatase in brain and other tissues complex of. In accordance with this concept, rnas of normal size and amount were detected in msd fibroblasts for three sulfatases tested. These low values have been reported in association with anencephaly, smithlemliopitz, fetal adrenal hypoplasia, highdose corticosteroid therapy and steroid sulfatase deficiency. Placental steroid sulfatase deficiency is a genetic disorder only recently reported in the medical literature. After birth, the girl was diagnosed as having classic multiple sulfatase deficiency based on the clinical and biochemical features.
Eight subjects age 3 months74 years with steroid sulfatase deficiency had strikingly elevated cholesterol sulfate levels with means and ranges as follows. Neonatal multiple sulfatase deficiency with a novel mutation and. Feb 24, 2016 multiple sulfatase deficiency is a lysosomal storage disorder that mainly affects the brain, skin, and skeleton. Familial xlinked ichthyosis, steroid sulfatase deficiency. Steroid sulfatase deficiency and androgen activation. Animal work suggests the sts gene may be involved in attentional processes. Quality of life, limitations and expectatios of someone with multiple sulfatase deficiency. Deficient dhea sulfation, the opposite enzymatic reaction.
Screening for steroid sulfatase sts gene deletions by. Pdf linkage analysis in xlinked ichthyosis steroid. Treatment steroid sulfatase deficiency x linked ichthyosis. Treatment steroid sulfatase deficiency xlinked ichthyosis. This xlinked disorder has an estimated frequency of 1 in 2000 to 1 in 6000 males, and 1 in 2000 women are estimated to be carriers. Steroid sulfatase deficiency was confirmed in placenta, leukocytes, and cultured skin fibroblasts of affected males. Here, we show for the first time, that xlinked ichthyosis may be comorbid with an additional psychiatric phenotype psychosis. A family with an obstetric history consistent with placental sulfatase deficiency has xlinked ichthyosis. Difficulty in recognizing multiple sulfatase deficiency in an infant. Steroid sulfatase deficiency x linked ichthyosis search this site. Multiple sulfatase deficiency genetic and rare diseases. Diagnosis steroid sulfatase deficiency xlinked ichthyosis. Low maternal serum estriol as a marker for steroid sulfatase.
Steroidresistant nephrotic syndrome associated with steroid sulfatase deficiencyxlinked recessive ichthyosis. Does steroid sulfatase deficiency influence postpartum. Disease bioinformatics research of steroid sulfatase deficiency disease has been linked to sarcoma, neoplasms, malignant neoplasms, soft tissue neoplasms, neoplasm metastasis. The enzyme steroid sulfatase sts desulfates a variety of steroid compounds thereby altering their activity. His generation includes five similarly affected male members.
This paper will first look into the basic properties of steroid sulfatase and the conditions that steroid sulfatase can cause in order to gain a broad, yet adequately full, understanding of what the gene and the protein that it encodes are capable of doing. Somatic and germinal mosaicism for the steroid sulfatase. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Xlinked ichthyosis abbreviated xli is a skin condition caused by the hereditary deficiency of the steroid sulfatase sts enzyme that affects 1 in 2000 to 1 in 6000 males. Xli manifests with dry, scaly skin and is due to deletions or mutations in the sts gene. Affected boys later develop large, polygonal, dark brown scales, especially on the neck, extremities, trunk, and. Xlinked ichthyosis steroid sulfatase deficiency and related disorders of cholesterol metabolism this xlinked recessive disorder almost exclusively affects males. Does deficiency of arylsulfatase b have a role in cystic. The first way is that cso4 could further separate the spaces between the atypical skin barrier and the. A keratinization disorder manifesting with mild erythroderma and generalized exfoliation of the skin within a few weeks after birth. Pdf xlinked ichthyosis steroid sulfatase deficiency is associated. Congenital xlinked ichthyosis xli is a genetic disorder of keratinisation caused by steroid sulphatase sts deficiency, which results in a. Kevin spencer, tim chard, in the immunoassay handbook fourth edition, 20. Multiple sulfatase deficiency is an inherited disorder characterized by a deficiency of several sulfatases and the accumulation of sulfatides, glycosaminoglycans, sphingolipids, and steroid.
Steroid sulfatase sts deficiency is the underlying cause of the skin condition known as recessive xlinked ichthyosis rxli. It is considered axiomatic in human genetics that the study of relatively rare disorders may yield far more in dividends than might be anticipated based on the incidence of the condition in question. Xlinked recessive ichthyosis recessive xlinked ichthyosis or rxli is a skin disorder that manifests as dry scales, resulting in a roughdry skin texture. Xli can also occur in the context of larger deletions causing contiguous gene syndromes. Multiple sulfatase deficiency is a rare autosomal recessive disorder in which affected individuals. Pdf xlinked ichthyosis xli steroid sulfatase deficiency is caused by deletions or point mutations of the steroid sulfatase sts gene on. Steroid sulfatase an overview sciencedirect topics. Diagnosis steroid sulfatase deficiency x linked ichthyosis. Low maternal serum estriol as a marker for steroid. Because the signs and symptoms of multiple sulfatase deficiency vary widely, researchers have split the condition into three types. A deficiency of steroid sulfatase has been demonstrated in xli, and this abnormality is specific and not observed in the other types of ichthyosis except multiple sulfatase deficiency. Steroid sulfatase sts deficiency is one of the most common human inborn errors of metabolism.
Informational site on steroid sulfatase deficiency x linked icthyosis. Xlinked ichthyosis associated with psychosis and behavioral. The signs and symptoms of this condition vary widely, prompting researchers to divide it into three types. Mar 22, 2016 steroid sulfatase sts cleaves the sulfate moiety off steroid sulfates, including dehydroepiandrosterone dhea sulfate dheas, the inactive sulfate ester of the adrenal androgen precursor dhea. Antenatal diagnosis of steroid sulphatase deficiency. The importance of antenatal diagnosis lies in the differentiation of this disorder from the more ominous fetal defects that result in low oestrogen concentrations. Multiple sulfatase deficiency msd is an inherited lysosomal storage disease characterized by the deficiency of at least seven sulfatases. Sts is expressed in the skin, and its deficiency in this tissue has been linked to the dermatological condition xlinked ichthyosis. In postnatal life this gene defect gives rise to xlinked recessive ichthyosis. Stsd due to deletions or inactivating mutations in the xlinked sts gene manifests with ichthyo sis, but androgen synthesis. The basic defect in msd is thought to be in a posttranslational modification common to all sulfatases. In this study we describe an xlinked ichthyosis patient with complete deletion of the steroid sulfatase gene and his mother with somatic and germinal mosaicism for this molecular defect. Previously, xlinked ichthyosissteroid sulfatase deficiency has been associated with developmental and.
In addition, it is possible that cofactors of sts could exhibit age and sex steroiddependent changes. Steroid sulfatase definition of steroid sulfatase by. Mar 31, 2020 xlinked ichthyosis with steryl sulfatase deficiency. A deficiency in steroid sulfatase leads to an accumulation of cso4 that could work in two ways to cause symptoms in xlinked ichthyosis. Most documented cases of placental sulfatase deficiency have been marked by. The neonatal type is the most severe form, with symptoms develop.
This condition causes extremely dry skin, which may be very itchy and have a dark appearance. Because the enzyme is detected readily in leukocytes from normal. Pdf steroidresistant nephrotic syndrome associated with. Objective to ascertain all prenatally diagnosed cases of steroid sulfatase sts deficiency in british. Steroid sulfatase deficiency pediatric research nature. Statistical manual of mental disorders, fifth edition. This has clearly been demonstrated in studies of human steroid sulfatase deficiency and the steroid sulfatase system during the past few years.
It is caused predominantly by a deletion of the sts gene locus on the short arm of the xchromosome, resulting in steroid sulfatase deficiency and disturbed cholesterol metabolism. She was born by vaginal delivery at week 40 with birth weight of 2,815 g, length 46 cm, and head circumference 32 cm. Ichthyosis, x linked nord national organization for rare. I propose that steroid sulfatase deficiency results in low basal levels of circulating oestrogens as a consequence of a reduced pool of precursor dhea in the tissues listed above, and that these low oestrogen levels predispose new mothers to psychosis.
Steroid sulfatase deficiency and androgen activation before and. Of these boys, 4 displayed bilateral inguinal cryptorchidism and one was affected unilaterally. Chondrodysplasia punctata with steroid sulfatase deficiency. We describe the difficulty in recognizing multiple sulfatase deficiency msd. When boys affected with steroid sulfatase deficiency are delivered, the lack of the enzyme in the placenta may cause birth complications. Multiple sulfatase deficiency nord national organization. Ichthyosis, x linked nord national organization for. As it will soon be clear, many of the disorders associated are sexually dimorphic.
Dec 17, 2014 the girl is the first child of healthy, nonconsanguineous parents. Steroid resistant nephrotic syndrome associated with steroid sulfatase deficiency xlinked recessive ichthyosis. Xlinked ichthyosis steroid sulfatase deficiency is. The sts gene encodes steroid sulfatase, a membranebound microsomal enzyme that is ubiquitously expressed and hydrolyzes several 3betahydroxysteroid sulfates, which serve as metabolic precursors for estrogens, androgens, and cholesterol stein et al. Screening for steroid sulfatase sts gene deletions by multiplex dna amplification andrea ballabio 12, joel e. Multiple sulfatase deficiency definition, symptoms, and treatment options. In most patients, the loss of steroid sulfatase results from deletion of a segment of dna on the x chromosome, where the gene for the enzyme is located 14,15. If you have problems viewing pdf files, download the latest version of adobe reader. For language access assistance, contact the ncats public information officer. Thomas caskey 12 1 howard hughes medical institute and 2institute for molecular genetics, b aylor college of medicine. Multiple sulfatase deficiency is a lysosomal storage disorder that mainly affects the brain, skin, and skeleton. Sts deficiency stsd due to deletions or inactivating mutations in the xlinked sts gene manifests with ichthyosis, but androgen synthesis. Steroid sulfatase sts cleaves the sulfate moiety off steroid sulfates, including dehydroepiandrosterone dhea sulfate dheas, the inactive sulfate ester of the adrenal androgen precursor dhea.
Steroid sulfatase deficiency and androgen activation before. Steroid sulfatase deficiency and contiguous gene deletion syndrome. Although diagnosis of steroid sulfatase deficiency can be made readily by fibroblast culture, this procedureis expensiveandslow. Leucocyte ss and asc activities in the mother and grandmother of these two cases with steroid sulfatase deficiency ssd were 38% to 69% of the mean levels in the control. Pdf placental steroid sulphatase deficiency ssd is an xlinked inborn error of metabolism. In a series of 25 patients birth complications were reported in 9 cases. This, coupled with the results of the family investigation, strongly suggests that the deficiency is a sex. Comparisons can be useful for a differential diagnosis.
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