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HPMR

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hydroxysteroid (17-beta) dehydrogenase 2 OKDB#: 3486
 Symbols: HSD17B2 Species: human
 Synonyms: HSD17, SDR9C2, EDH17B2,HSD17, EDH17B2,17-@BETA-HSD II  Locus: 16q24.1-q24.2 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment
General function Enzyme, Oxidoreductase
Comment
Cellular localization
Comment
Ovarian function
Comment
Expression regulated by LH
Comment
Ovarian localization Granulosa
Comment Changes in mouse granulosa cell gene expression during early luteinization. McRae RS et al. Changes in gene expression during granulosa cell luteinization have been measured using serial analysis of gene expression (SAGE). Immature normal mice were treated with pregnant mare serum gonadotropin (PMSG) or PMSG followed, 48 h later, by human chorionic gonadotropin (hCG). Granulosa cells were collected from preovulatory follicles after PMSG injection or PMSG/hCG injection and SAGE libraries generated from the isolated mRNA. The combined libraries contained 105,224 tags representing 40,248 unique transcripts. Overall, 715 transcripts showed a significant difference in abundance between the two libraries of which 216 were significantly down-regulated by hCG and 499 were significantly up-regulated. Among transcripts differentially regulated, there were clear and expected changes in genes involved in steroidogenesis as well as clusters of genes involved in modeling of the extracellular matrix, regulation of the cytoskeleton and intra and intercellular signaling. The SAGE libraries described here provide a base for functional investigation of the regulation of granulosa cell luteinization.
Follicle stages
Comment
Phenotypes POF (premature ovarian failure)
Mutations 1 mutations

Species: human
Mutation name: None
type: naturally occurring
fertility: subfertile
Comment: Perrault Syndrome Pagon RA 1993 et al. DISEASE CHARACTERISTICS Perrault syndrome is characterized by sensorineural hearing loss (SNHL) in males and females, and ovarian dysfunction in females. The SNHL is bilateral and ranges in severity from moderate with early-childhood onset to profound with prelingual (congenital) onset to moderate with early-childhood onset. When onset is in early childhood, hearing loss can be progressive. Ovarian dysfunction ranges from gonadal dysgenesis (absent or streak gonads) manifesting as primary amenorrhea to primary ovarian insufficiency (POI) defined as cessation of menses before age 40 years. Fertility in affected males is reported as normal (although the number of reported males is limited). Neurologic features described in some affected women include developmental delay or intellectual disability, cerebellar ataxia, and motor and sensory peripheral neuropathy. DIAGNOSIS/TESTING The diagnosis of Perrault syndrome is based on the clinical findings of SNHL in men and women, and ovarian dysfunction in women with a 46,XX karyotype. The diagnosis is confirmed by the presence of biallelic pathogenic variants in one of four genes (HARS2, HSD17B4, LARS2, or CLPP); to date, however, biallelic pathogenic variants in one of these four genes have been identified in individuals in seven families only. MANAGEMENT Treatment of manifestations: Hearing loss should be assessed and treated by a multidisciplinary team including an audiologist and otolaryngologist. Possible interventions for those with hearing loss include special educational resources, hearing aids, vibrotactile devices, and cochlear implantation. Cochlear implantation is an option for children older than 12 months with severe-to-profound hearing loss. Primary amenorrhea is treated in adolescents in collaboration with a pediatric endocrinologist in the usual manner first to induce puberty and then to mimic the menstrual cycle and maintain bone health. Assisted reproduction through in vitro fertilization using donor eggs is a consideration for women with gonadal dysgenesis; oocyte cryopreservation can be considered in women at risk for primary ovarian insufficiency. Prevention of secondary complications: In consultation with a reproductive endocrinologist, estrogen replacement treatment should be combined with progesterone to reduce the risk for endometrial cancer. Surveillance: For women with primary amenorrhea: during induction of puberty, follow up every three months for staging of pubertal development and adjustment of estrogen dose. For women on maintenance estrogen replacement therapy: annual follow up as well as approximately every five-year assessment of bone density. Routine audiologic assessments when hearing loss is mild to moderate; no follow up or audiologic assessments when hearing loss is profound. For children with hearing impairment: monitor development Agents/circumstances to avoid: Avoid: ototoxic medication (e.g., aminoglycosides) if alternatives are available; exposure to loud noise, which can exacerbate hearing loss. Evaluation of relatives at risk: It is appropriate to evaluate the older and younger sibs of a proband in order to identify as early as possible those who would benefit from treatment and preventive measures (e.g., early intervention in young children with profound hearing loss). GENETIC COUNSELING Perrault syndrome is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk require prior molecular identification of the pathogenic variants causing Perrault syndrome in the family. /////////////////////////

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created: July 27, 2006, 3:12 p.m. by: Alex   email:
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last update: Sept. 26, 2014, 4:01 p.m. by: hsueh    email:



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