[Medline]. 352(1-2):4-12. AIS represents a spectrum of defects in androgen action and can be subdivided into three broad phenotypes: Various treatment options are available to someone with AIS, including reconstructive surgery and hormone therapy. Boys with PAIS will sometimes have some breast development around puberty. Please confirm that you would like to log out of Medscape. 2013 Sep 28. Ismail-Pratt IS, Bikoo M, Liao LM, et al. 2008 Jul. The risk of germ cell tumors (GCT) in partial AIS with untreated undescended testes is significantly greater, with estimates as high as 50%. Anatomy. This procedure is often delayed until after puberty because the testicles produce hormones that help girls with CAIS develop a normal female body shape without hormone treatment, and the risk of the testicles becoming cancerous before adulthood is extremely low. Topical dihydrotestosterone to treat micropenis secondary to partial androgen insensitivity syndrome (PAIS) before, during, and after puberty - a case series. No data currently describe dosage, administration, benefits, … Androgen insensitivity syndrome is a rare condition that affects the sexual development and function of an individual. 2009 May 20. Arch Argent Pediatr. Are there natural treatment(s) that may improve the quality of life of people with Androgen Insensitivity Syndrome? Tordjman KM, Yaron M, Berkovitz A, Botchan A, Sultan C, Lumbroso S. Fertility after high-dose testosterone and intracytoplasmic sperm injection in a patient with androgen insensitivity syndrome with a previously unreported androgen receptor mutation. [Medline]. A child born with AIS is genetically male, but the external appearance of their genitals may be female or somewhere between male and female. J Clin Endocrinol Metab 2016; 101:3959. Topcu V, Ilgin-Ruhi H, Siklar Z, Karabulut HG, Berberoglu M, Hacihamdioglu B, et al. If you log out, you will be required to enter your username and password the next time you visit. … Chen MJ, Vu BM, Axelrad M, Dietrich JE, Gargollo P, Gunn S, et al. 16 (1):58. Open issues in the management of androgen insensitivity syndromes includes decisions on sex assignment, timing of gonadectomy, fertility, physcological outcomes and genetic counseling. The effect of the condition can range from the presence of normal female sexual characteristics to normal male sexual characteristics or a combination of both. [Medline]. People with this syndrome are born with the physical traits of a female but are genetically male. Philibert P, Audran F, Pienkowski C, et al. It's usually recommended that a child fully understands their condition before they reach puberty. An endocrinologist helps set the future course for medical and surgical therapy. 2015 Aug. 29 (4):569-80. Elfferich P, van Royen ME, van de Wijngaart DJ, et al. 2014 Feb. 99(2):E348-55. Children with androgen insensitivity syndrome (AIS) and their parents will be supported by a team of specialists who can offer ongoing information and care. Undescended testicles will be surgically removed because of the risk that they will become cancerous. The use of MRI in the pre-surgical evaluation of patients with androgen insensitivity syndrome. For adults with androgen insensitivity syndrome and other intersex conditions, lack of emotional and psychological support has been a major criticism of the medical care system. Next review due: 19 November 2021. The primary care practitioner can coordinate medical care for a child with androgen insensitivity syndrome, or coordination may be performed by a pediatric endocrinologist, especially as part of a multidisciplinary team. Treatment for this is usually delayed until after puberty, so she can decide if she wants treatment for it and choose what treatment she prefers. Androgen insensitivity syndrome (AIS) causes the development of abnormal sexual organs. The Androgen Insensitivity Syndrome Support Group (AISSG) has constituent organizations in the United States, United Kingdom, and Australia, as well as contacts and/or smaller groups in many European countries. Treatment depends on the phenotype and social sex of the individual. Christian A Koch, MD, PhD, FACP, MACE Professor, University of Oldenburg and Dresden, Germany; Past Professor With Tenure, Division of Endocrinology, University of Mississippi Medical Center 2012 May. Diseases & Conditions, 2010 Patient advocates, including medical ethicists and intersex advocates, now endorse delaying this reconstructive surgery until children are old enough to decide for themselves. Many people feel it's best to explain the basic facts about AIS to the child as soon as possible. [Medline]. [Medline]. However, as a child gets older, they may need support from a therapist with experience in AIS to help them understand and cope with their condition. Hinyokika Kiyo. 2016 Dec. 101 (12):4532-4540. If this happens, an operation can be carried out to move the testicles into the scrotum. The advantage of natural hormone production by the testes aiding in development of secondary sex characteristics is theorized though not substantiated by research trials. 33(5):887-94. A US doctor answered Learn more. [31]. Cox K, Bryce J, Jiang J, et al. SUBJECTS with androgen insensitivity syndromes (AIS) are characterized by a 46,XY karyotype, the presence of testes, normal or elevated androgen levels in blood, and impairment of the usual response to androgens associated with various aberrations of male differentiation and virilization. Horm Res Paediatr. Berglund A, Johannsen TH, Stochholm K, Viuff MH, Fedder J, Main KM, et al. [Medline]. Androgen insensitivity syndrome. Health Care Women Int. If your child is diagnosed with AIS, you should be offered counselling to help you come to terms with your emotions. Robert P Hoffman, MD Professor and Program Director, Department of Pediatrics, Ohio State University College of Medicine; Pediatric Endocrinologist, Division of Pediatric, Endocrinology, Diabetes, and Metabolism, Nationwide Children's Hospital Children with PAIS may need to take hormone supplements. [Medline]. If you decide you'd prefer for your child's testicles to be removed before puberty, hormone treatment will be needed to help them develop a more female body shape. 76(6):894-8. Khan S, Mannel L, Koopman CL, Chimpiri R, Hansen KR, Craig LB. Oakes MB, Eyvazzadeh AD, Quint E, Smith YR. [Medline]. Androgen insensitivity syndrome affects a child’s sexual development before birth and during puberty. For individuals with androgen insensitivity syndrome, the standard of care is an orchidectomy to prevent possible malignant degeneration of the testes. AIS can be graded on a scale from one to 7. Abstract. Androgen insensitivity syndrome, partial: A rare inherited condition where males are partially insensitive to the male hormones which results in varying degrees of feminization. [Medline]. Women may also need some psychological support around their identity. Andrologia. 2013. Malignancy in disorders of sex development. [Medline]. However, psychological support and advice to help you deal with any issues that arise as a result of your child's condition is probably the most important aspect of care. 2016 Nov 8. Therapy may vary depending on the nature of the gene defect. However, some people feel this doesn't represent who they are and decide to switch gender in later life. This website also contains material copyrighted by 3rd parties. Incidence, Prevalence, Diagnostic Delay, and Clinical Presentation of Female 46,XY Disorders of Sex Development. This is a result of their testicles failing to move from the tummy to the scrotum. Bone mineral density in complete androgen insensitivity syndrome and the timing of gonadectomy. A long-term relationship between the child and therapist is ideal so any new issues can be discussed as the child matures. [Full Text]. Administration of androgens in more masculinized patients with partial androgen insensitivity syndrome (PAIS) has been suggested but remains highly controversial. Carefully maintain communication and coordination among primary care, genetic, endocrinologic, and surgical services to avoid trauma to the child and family. The condition is genetic and affects the Y chromosome that shapes male sexual development. If this occurs, an operation can be carried out to remove the breast tissue. Medical practice and court decisions appear to be moving in this direction as the new standard of care. [Medline]. Variable loss of functional activities of androgen receptor mutants in patients with androgen insensitivity syndrome. Androgen insensitivity syndrome (AIS) is a common etiology of sexual developmental disorders resulting in varying phenotypes. For patients with complete androgen insensitivity syndrome, hormone therapy almost always consists of estrogen replacement. Next. 2002 Bruce E Wilson, MD Associate Professor, Department of Pediatrics and Human Development, Michigan State University College of Human Medicine at East Lansing, Bruce E Wilson is a member of the following medical societies: American Diabetes Association, Association of Clinical Scientists, Lawson-Wilkins Pediatric Endocrine Society, and New York Academy of Sciences. The majority of mutations result in single amino acid substitutions. 2015 Aug 15. This won't cause periods to start, as people with CAIS don't have a womb, but it will help them develop a more female body shape. The incidence of androgen insensitivity syndrome is estimated to be 1:20,000-64,000 male births(1).AIS is an X-linked recessive disorder (2). August 2002. In many cases the distinction between symptoms of Androgen Insensitivity Syndrome and complications of Androgen Insensitivity Syndrome is unclear or arbitrary. J Pediatr Adolesc Gynecol. There are two types of androgen insensitivity syndrome: complete and partial. Lynne Lipton Levitsky, MD Chief, Pediatric Endocrine Unit, Massachusetts General Hospital; Associate Professor of Pediatrics, Harvard Medical School No medical consensus has been reached about this therapy, and no dosage schedules have been established. Trials have been done with testosterone replacement. Male and female sexes are differentiated by their sexual organs. Because this is a particularly stressful diagnostic possibility for many families, consult an appropriate mental health professional to provide psychological and emotional support. [Full Text]. Some procedures may be best carried out while your child is still young, but others can be delayed until they're older. [Medline]. People with this condition are genetically male (one X and one Y chromosome) but do not respond to male hormones at all. Partial androgen insensitivity syndrome (PAIS) is a disease that occurs in children when their body can't respond the right way to the male sex hormones (androgens). Treatment for partial androgen insensitivity syndrome may include corrective surgery to match gender identity. Sex Dev. [5, 7, 8]. Pieper CC, Teismann IK, Konrad C, Heindel WL, Schiffbauer H. Changes of pituitary gland volume in Kennedy disease. (At times, these visits will be infrequent.) 2011 Aug. 7(4):416-21. [Medline]. [Medline]. Treatment debates include prepubertal or postpubertal Gonadectomy. Arch Dis Child. Note the associated ventral chordee and true urethral meatus located at the scrotal level. Diseases & Conditions, 2002 [Medline]. Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations. The gene for the androgen receptor is located on the X chromosome and therefore follows an X-linked pattern of inheritance. J Clin Endocrinol Metab. Contact with other individuals who have androgen insensitivity syndrome is another source of psychological and emotional support for the patient. 6:389. Gottlieb B, Beitel LK, Nadarajah A, Paliouras M, Trifiro M. The androgen receptor gene mutations database: 2012 update. [30], Patients with Kennedy disease cannot receive causal therapy. 2012 Oct 20. [Medline]. Complications of Androgen Insensitivity Syndrome are secondary conditions, symptoms, or other disorders that are caused by Androgen Insensitivity Syndrome. Best Pract Res Clin Endocrinol Metab. Endocrine Treatment of Gender-Dysphoric/ Gender-Incongruent Persons: An Endocrine Society* Clinical Practice Guideline. Girls with CAIS will usually have their internal testicles removed, as there's a very small risk they could become cancerous if left in place. King TFJ, Wat WZM, Creighton SM, Conway GS. Patel V, Casey RK, Gomez-Lobo V. Timing of Gonadectomy in Patients with Complete Androgen Insensitivity Syndrome-Current Recommendations and Future Directions. 2011. In a family with an affected infant, the parents are the primary clients. Treatment may include irreversible and far reaching surgical operations such as gonadectomy, as well as hormone replacement therapy, or vaginoplasty if the patient has desire to engage in penetrative sex. Hellmann P, Christiansen P, Johannsen TH, Main KM, Duno M, Juul A. American Association of Clinical Endocrinologists, American College of Physicians-American Society of Internal Medicine, American Society for Clinical Pharmacology and Therapeutics, American Society for Dermatologic Surgery, Christian Medical and Dental Associations, Florida Chapter of The American Academy of Pediatrics, Florida Pediatric Society, International Society for Pediatric and Adolescent Diabetes, Lawson-Wilkins Pediatric Endocrine Society. 2012 Apr 16. If the testicles are removed when a girl with CAIS is a child, treatment with the hormone oestrogen (the female sex hormone) is usually started at the age of 10 or 11, so female development begins at an age consistent with puberty. Girls with PAIS who have their testicles removed may need oestrogen to encourage puberty. [Medline]. Patients with partial androgen insensitivity syndrome who have a male gender identity, however, may be treated with testosterone and/or dihydrotestosterone (DHT). Novel Associations in Disorders of Sex Development: Findings From the I-DSD Registry. Transl Androl Urol. 2016 Oct. 5 (5):794-798. [Medline]. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. [Medline]. J Pediatr Endocrinol Metab. Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug ReferenceDisclosure: Nothing to disclose. http://www.medscape.com/resource/hypogonadism, encoded search term (Androgen Insensitivity Syndrome) and Androgen Insensitivity Syndrome, Kallmann Syndrome and Idiopathic Hypogonadotropic Hypogonadism, Follicle-Stimulating Hormone Abnormalities, Former British Cycling Doctor Unaware Testosterone Could Be Used for Doping, Former British Cycling Doctor Denies Putting Own Ambition Before Riders' Safety, Osteoporosis Underdiagnosed in Older Men With Fracture, Growth Disorders: 10 Cases of a Developing Problem, More Evidence That Vitamin D Sufficiency Equals Less Severe COVID-19, 'On-Demand' Fast Mobilizes Fat; Low-Carb Breakfast Stymies Hunger, Low Free 25(OH)D Vitamin D Is Best Predictor of Mortality, Blood Glucose on Admission Predicts COVID-19 Severity in All, Hot Tubs Improve A1c, BMI, and Blood Pressure in Type 2 Diabetes. Schindler M, Fabre C, de Weille J, Carreau S, Mersel M, Bakalara N. Disruption of nongenomic testosterone signaling in a model of spinal and bulbar muscular atrophy. The general belief is that these women do not require progesterone because they have no uterus. Male patients with partial androgen insensitivity syndrome: a longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastia. Clinical characteristics: Androgen insensitivity syndrome (AIS) is typically characterized by evidence of feminization (i.e., undermasculinization) of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype. Adolescent and adult patients with androgen insensitivity syndrome require hormone replacement. The health professionals looking after your child can advise you on how to talk to your child and support you through this process. In addition, some may need to undergo dilation to increase vaginal depth, similar to with MRKH. [Full Text]. 0 answers. You're entitled to specialist advice about your child's future development and any gender identity issues that could arise later on. Many patient advocates now support delaying these procedures until the patient is sufficiently mature to participate actively in treatment decisions (ie, whether to undergo surgery, what type of procedure). 106(3):265-8. Genetic counselors do not provide this type of ongoing family support. Additionally, these clinicians can provide appropriate information about the child's condition. A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length. Boys with PAIS may be born with fully or partially undescended testicles. In a retrospective analysis of pre- and post-gonadectomy parameters in 113 women with complete AIS, no relationship between age of gonadectomy and BMD was found, nor was a drop in BMD seen during follow-up after gonadectomy. Some young children with AIS don't need psychological support because their condition is completely natural to them. This type of contact can markedly decrease feelings of "freakishness" and "being the only one," which patients and families frequently experience. No uterus, but those w/cais have intraa ... Read More. The DSD Families website also provides information and support for families affected by disorders of sex development. Mol Cell Endocrinol. For individuals with partial androgen insensitivity syndrome, traditional therapy has mirrored therapy for individuals with complete androgen insensitivity syndrome. [Medline]. 87:3893-3901. 2008 Dec. 21(6):305-10. AJNR Am J Neuroradiol. J Pediatr Urol. Drugs, 2001 Christian A Koch, MD, PhD, FACP, MACE is a member of the following medical societies: American Academy of Neurology, American Association of Clinical Endocrinologists, American College of Physicians-American Society of Internal Medicine, American Society for Clinical Pharmacology and Therapeutics, American Society for Dermatologic Surgery, Endocrine Society, German Diabetes AssociationDisclosure: Serve(d) as a speaker or a member of a speakers bureau for: Novartis
Received income in an amount equal to or greater than $250 from: Springer Publisher and Elsevier Publisher. BJOG. 122824-overview Wilson JM, Arnhym A, Champeau A, Ebbers M, Coakley F, Baskin L. Complete androgen insensitivity syndrome: an anatomic evaluation and sexual function questionnaire pilot study. [Medline]. J Pediatr Endocrinol Metab. The finding of the majority of tumors in the postpubertal age group argues for later surgery, Girls with AIS often have a shorter vagina than normal, which can make having sex difficult. The decision is more difficult if your child has partial androgen insensitivity syndrome (PAIS), as their genitals may have both male and female aspects. These disorders of androgen action present as 46 XY disorders or differences of sex development (DSD). 2015 Jul 21. best androgen insensitivity syndrome treatment. AISSG maintains an excellent Web site at www.aissg.org that provides a large amount of medical information, AISSG contact points, and patients' accounts of their experiences with AIS. Clin Endocrinol (Oxf). Psychological support is probably the most important aspect of medical care from the patient's point of view. Similarly, in female gender patients with partial androgen insensitivity syndrome who have some degree of masculinization of the genitalia at birth, cosmetic reconstructive surgery traditionally has been performed in infancy. Read more about treating undescended testicles. Parents need genetic counseling to understand the nature of the condition and the risk of recurrence (25% for each subsequent pregnancy), as well as to identify other potential carriers. Clin Endocrinol (Oxf). [Medline]. Garrett CC, Kirkman M. Being an XY female: an analysis of accounts from the website of the androgen insensitivity syndrome support group. Untreated or inadequately managed AIS may result in severe psychological distress in infants as they go through puberty into adulthood and their families at the same time. Fertil Steril. [9] The timing of such surgery has been debated. To prevent testicular malignancy, treatment of complete androgen insensitivity syndrome may include either removal of the testes after puberty when feminization is complete or prepubertal gonadectomy accompanied by estrogen replacement therapy. This can be repaired by closing and strengthening the gap created in the surrounding tissues. [Medline]. 380 (9851):1419-28. In individuals with a 46,XY karyotype, defects in AR signaling result in Androgen Insensitivity Syndrome (AIS). Complete androgen insensitivity syndrome treatment. Introduction. Progesterone is added, if considered appropriate, after maintenance therapy with estrogen is established. 2012 Jun. For example, you can call the Contact a Family helpline on 0808 808 3555. Is there any natural treatment for Androgen Insensitivity Syndrome? BMC Res Notes. Timing of gonadectomy in adult women with complete androgen insensitivity syndrome (CAIS): patient preferences and clinical evidence. Failure to respond for the endogenous androgen, Androgen Insensitivity Syndrome is one of the common causes of genital ambiguity and intersex. [Medline]. Ohba K, Hayashida Y, Hakariya H, Ichinose S, Naitou S. [A case of complete androgen insensitivity syndrome]. The testicles may also be removed during another operation. Therapy usually is initiated with a low dose of estrogen alone, then is increased to routine adult dosing. In this case series we have presented three girls from a family of seven children visited Tikur Anbassa Specialized Hospital (TASH) with a complaint of primary amenorrhea and diagnosed to have androgen insensitivity syndrome. 2009 May. More recent meta-analyses suggest progesterone administration may have little or no advantage for patients without a uterus. Various treatment options are available to someone with AIS, including reconstructive surgery and hormone therapy. This involves inserting small plastic rods that gradually widen and deepen the vagina. AIS is also known as androgen receptor deficiency, and… [Medline]. Arlan L Rosenbloom, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Epidemiology, American Pediatric Society, Endocrine Society, Pediatric Endocrine Society, Society for Pediatric Research, Florida Chapter of The American Academy of Pediatrics, Florida Pediatric Society, International Society for Pediatric and Adolescent DiabetesDisclosure: Nothing to disclose. 7(5):223-34. 2008 Jun. [Medline]. Close menu. [Full Text]. The patient needs to establish a long-term relationship with the therapist to discuss new issues that arise as the child matures. 2017 Aug. 87 (2):136-140. Alternatively, a procedure to remove skin and tissue from the genital area and use it to reconstruct the vagina can be carried out. If your child identifies as male, hormone therapy will include testosterone. 55(5):277-80. 2013 Jun 30. All material on this website is protected by copyright, Copyright © 1994-2020 by WebMD LLC. [Medline]. Mongan NP, Tadokoro-Cuccaro R, Bunch T, Hughes IA. The situation can be more difficult if a girl with CAIS isn't diagnosed until she has started puberty. [18], Low bone mineral density (BMD) has been reported in complete androgen insensitivity syndrome (AIS), but the impact of timing of gonadectomy is not known. Later orchidectomy allows pubertal development to occur spontaneously with the production of estrogen from the aromatization of the high levels of testosterone normally produced. Most people born with the condition are unable to have children, but they'll otherwise be perfectly healthy and able to lead a normal life. [Full Text]. Children with androgen insensitivity syndrome (AIS) and their parents will be supported by a team of specialists who can offer ongoing information and care. Lynne Lipton Levitsky, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Diabetes Association, American Pediatric Society, Endocrine Society, Pediatric Endocrine Society, Society for Pediatric ResearchDisclosure: Nothing to disclose. [Medline]. J Clin Endocrinol Metab. Androgen insensitivity syndrome (AIS) is a rare condition that affects the development of a child's genitals and reproductive organs. Androgen insensitivity syndrome is the largest single entity that leads to 46,XY undermasculinization. Complete Androgen Insensitivity Syndrome (CAIS) is a rare sexual development disorder with X-linked recessive inheritance. In addition, many women with androgen insensitivity syndrome require vaginal lengthening procedures. 2015 Jun. The spectrum of these disorders ranges from undervirilized or infertile men to individuals with … Androgen Insensitivity Syndrome (AIS) is typically characterized by evidence of feminization of the ex-ternal genitalia at birth, secondary sexual develop-ment well below the age at puberty, and infertility in individuals with a 46 XY karyotype. Androgen insensitivity syndrome (AIS) is an intersex condition occurring in 1:20,000 individuals to 1:64,000, resulting in the partial or complete inability of the cell to respond to androgens. Complete androgen insensitivity syndrome is treated with estrogen replacement therapy after puberty. Hum Mutat. Robert P Hoffman, MD is a member of the following medical societies: American College of Pediatricians, American Diabetes Association, American Pediatric Society, Christian Medical and Dental Associations, Endocrine Society, Midwest Society for Pediatric Research, Pediatric Endocrine Society, Society for Pediatric ResearchDisclosure: Nothing to disclose. Most children with PAIS stay with the gender they've been raised as. In many cases, surgery isn't necessary because the vagina can be lengthened using a method called dilation. If at all possible, the therapist also should have experience dealing with patients who have intersex conditions, even if this experience is not specific to androgen insensitivity syndrome. [Medline]. [Guideline] Hembree WC, Cohen-Kettenis PT, Gooren L, et al. Talking to other parents who have a child with AIS may also help. Prepubertal malignancy in complete AIS is extremely rare. Androgen insensitivity syndrome arises from loss-of-function mutations in the coding sequence of the androgen receptors (AR). Animal data suggest worsening of the neurologic symptoms, but this has not yet been confirmed in humans. This can be a stressful time anyway, but it could be very traumatic if your child starts puberty without knowing about the possible changes they may experience, or the differences between them and their friends. BMC Endocr Disord. Forty percent of patients with complete androgen insensitivity syndrome (AIS) have a de novo mutation. [Medline]. Women with PAIS can also have surgery to reduce the size of their clitoris. 26(7):1102-16. It will also be continued after puberty to stop them developing menopausal symptoms and weak bones (osteoporosis). Coming to the treatment of Androgen Insensitivity Syndrome, in majority of the cases children with Androgen Insensitivity Syndrome are raised as girls since externally they have characteristic features of a female. For individuals with partial androgen insensitivity syndrome, traditional therapy has mirrored therapy for individuals with complete androgen insensitivity syndrome. Initial consultation for the child with androgen insensitivity syndrome should include a geneticist and a pediatric endocrinologist. HRT is the first and less complex aspect. [32] while the treatment of associated inguinal hernia and psychological issues related to the gonad may warrant prepubertal surgery. They can then be given more detailed information as they get older, as their ability to understand increases. The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene. With 46, XY undermasculinization AIS ) have a child fully understands their condition completely! During puberty but others can be carried out while your child is diagnosed with AIS able! Hanif SM, Kassahn KS, McIntyre LC, Chong CE, Scott HS, Torpy DJ, Torpy.. 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