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Gonadal abnormalities Gonadal dysgenesis (primary amenorrhea 80%) or early ovarian failure (20%) Skeletal and extremity abnormalities Broad (shield) chest (30%) with wide-spaced hypoplastic nipples Cubitus valgus of arms (50%) and knock knees (35%) Lymphedema of hands and feet (30%) Madelung wrist deformity (5%) Osteopenia (65%) In many cases, the gonads are replaced by fibrous tissue. Gonadal dysgenesis is not caused by a chromosomal abnormality. The incidence of this rare disease is less than 1 per 15,000 births [].The most common form of the disease is a karyotype displaying 45,X/46,XY mosaicism, which accounts for 35% of patients [].Patients have unilateral dysgenetic testis and … People with Swyer syndrome are typically raised as girls and have a … One estimate placed the incidence at 1 in 80,000 births. NCI's Dictionary of Cancer Terms provides easy-to-understand definitions for words and phrases related to cancer and medicine. This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD). Here you can see if there is any natural remedy and/or treatment that can help people with Swyer Syndrome / 46 XY Complete Gonadal Dysgenesis Therapy with hormone replacement is required. The second most common chromosomal abnormality (up to 40% of cases of sex chromosome abnormality in horses) is 64XY sex reversal syndrome, in which the phenotypic sex does not coincide with the chromosomal sex. Gonadal dysgenesis refers to a spectrum of anomalies with abnormal development of the gonads.It falls under the even broader group of disorders of gender development.. The histologic examination of the gonads showed a testicle on the left and a streak ovary on right. The exact incidence is unknown. In this report we describe a deletion of the short arm of the X chromosome in a 16-year-old female with gonadal dysgenesis. Gonadal dysgenesis females carrying a mosaic Y cell line who masculinize at puberty because of unilateral intra-abdominal or labioscrotal testis will invariably be recognized and treated with gonadectomy. These specialists have recieved grants, written articles, run clinical trials, or taken part in organizations relating to 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome, and are considered knowledgeable about the disease as a result. XX gonadal dysgenesis is a type of female hypogonadism in which no functional ovaries are present to induce puberty in an otherwise normal girl whose karyotype is found to be 46, XX. The phenotypic features seen in Turner syndrome are not present, however. Journal ... case report aimed to determine the responsiveness of the endometrium and the ovaries of an X0 mare after hormonal treatment. [ncbi.nlm.nih.gov] Dysarthria. Patients with mixed gonadal dysgenesis are characterized by asymmetry, with a streak gonad on one side and a dysgenetic testis on the other. Source: NCI Dictionary of … The general term XX gonadal dysgenesis can be applied to the 46,XX cases. Diagnosis of pure gonadal dysgenesis 46XX can be finally confirmed by the absence of gonocytes in the residual gonad. Treatment / Management. XY gonadal dysgenesis, also known as Swyer syndrome, is a type of hypogonadism in a person whose karyotype is 46,XY. Another estimate placed the incidence of Swyer syndrome (complete gonadal dysgenesis) and partial gonadal dysgenesis combined at 1 in 20,000 births. The condition only occurs in females. Gonadal dysgenesis XX type Hypergonadotropic ovarian dysgenesis autosomal recessive Hypergonadotropic ovarian dysgenesis with normal karyotype Hypergonadotropic ovarian failure XXGD XX gonadal dysgenesis. Embryo transfer also is suggested to those want to conceive children but their gonads cannot produced eggs due to the XX gonadal dysgenesis. It is the atypical development of the gonads in an embryo, with reproductive tissue replaced with functionless, fibrous tissue, termed streak gonads. Thereafter, patients must be observed by an endocrinologist, who supplements any deficiencies in gonadal or adrenal function. Reprint requests: Katherine K. McKnight, M.D., Department of Obstetrics and Gynecology, University of Alabama at Birmingham, 619 19th Street South, 176F, Room 10390, Birmingham, AL 35249 (FAX: 205-975-5732). Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic condition in which a female is partly or completely missing an X chromosome. Partial Gonadal Dysgenesis results in ambiguous genitals and duct development, as some androgens and MIS are produced. Pediatric Gonadal Dysgenesis. Gonadal dysgenesis is an infrequent cause for primary amenorrhea (less than 1:100 000) which some cases had been associated with insufficient expression of pro-ovarian genes (such as WNT4, RSPO1, FOXL2, etc.) Specialists who have done research into 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome. Pei-Yu Lin. gonadal dysgenesis without the stigma of Turner syndrome (46 XY pure gonadal dysgenesis, now known as Swyer syndrome). Another estimate placed the incidence of Swyer syndrome (complete gonadal dysgenesis) and partial gonadal dysgenesis combined at 1 in 20,000 births. A bloated ovary is an explicit feature in adult female zebrafish; however, this feature was nonexistent in the Tg(ZP:NTR-EGFP) female fish after Mtz treatment. The real dilemma is the non-masculinized 45,X/46,XY individuals with bilateral rudimentary streak gonads, who will not masculinize at puberty and are at risk for dysgenetic tumor. Treatment recommended for ALL patients in selected patient group. Surgical Care. Boys with MGD may or may not need hormone treatment, depending on if they make enough testosterone. AccessMedicine is a subscription-based resource from McGraw Hill that features trusted medical content from the best minds in medicine. Mixed-gonadal Dysgenesis. With nonfunctional streak ovaries, she is low in estrogen levels (hypoestrogenic) and has high levels of FSH and LH.Estrogen and progesterone therapy is usually then commenced. Chance diagnosis of mixed gonadal dysgenesis in an adult case of malignant gonadal germ cell tumor: a case report Yoshiko Kurose*, Tomonori Nagai, Kousuke ... only discovered by chance during treatment for a malig-nant gonadal germ cell tumor. LiHuman Growth Hormone Administration in Gonadal Dysgenesis JOHNJ. The condition usually first becomes apparent in adolescence with delayed puberty and primary … With the ensuing hypergonadotropic hypogonadism from gonadal dysgenesis, most females would then need hormone replacement therapy, initially for induction of puberty, and later on in life, for maintaining secondary sexual characteristics and possibly, pregnancy. Genital anomalies in … Mixed Gonadal Dysgenesis. Partial Gonadal Dysgenesis results in ambiguous genitals and duct development, as some androgens and MIS are produced. The treatment is based essentially on hormone substitution therapy. Management includes hormone replacement therapy … Successful pregnancy in a pure gonadal dysgenesis with karyotype 46, XY patient (Swyer’s syndrome) following oocyte donation and hormonal treatment. Title. Are there natural treatment(s) that may improve the quality of life of people with Swyer Syndrome / 46 XY Complete Gonadal Dysgenesis? The disease is characterized by underdeveloped and dysfunctional ovaries, lack of spontaneous pubertal development, uterine hypoplasia, primary amenorrhea, and hypergonadotropic hypogonadism. Of the examined cells, 3% showed an early replication of the deleted X chromosome. The association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare and appears to be coincidental, independent of chromosomal anomalies. Psychosexual development is dependent on factors such as societal and cultural norms, in utero exposure to androgen, genetic differences, and familial dynamics. Men with gonadal dysgenesis have a greater risk of developing testicular cancer. Besides of removal of gonads or tumors by surgery, the treatment of patients with 46XY karyotype consists in cyclic administration of estrogens and progestagens restoring menstruation and bringing development of secondary sex attributes. Risk of malignancy in a scrotal testis is not clear but may also be increased. Gonadal dysgenesis may occur in individuals with apparently normal male (46,XY) chromosomal complements, and the phenotype may be indistinguishable from 46,XX gonadal dysgenesis with normal stature. The breakpoint was localized by BUdR treatment and acridine orange staining in region 2, band 2. or. Gonadal biopsy revealed normal testicular tissue and the decision was made to raise the infant as male.8 In a study done by Berkovitz et al,9 8 of the 15 patients studied presented with 46,XY partial gonadal dysgenesis, evidenced by ambiguous external genitalia and partial development of Müllerian and Wolffian structures. Because of the lack of development of the gonads, Swyer syndrome is also called 46,XY complete gonadal dysgenesis. Always check with a qualified professional for healthcare information, treatment advice and/or diagnosis. Simple 46, XY gonadal dysgenesis syndrome, also called Swyer syndrome, is known as pure gonadal dysgenesis. It usually affects the reproductive system as well as the urinary system and encompasses a range of phenotypes.… Gonadal Dysgenesis: Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis. Risk of gonadal malignancy is highest in mixed gonadal dysgenesis and in those with an intra-abdominal (undescended) testis. Streak gonads are a form of aplasia, resulting in hormonal failure that manifests as sexual infantism and infertility, with no initiation of puberty and secondary sex characteristics. Title. Males have an X and a Y chromosome (written as XY). Abstract Perrault syndrome is a recessive disorder characterized by ovarian dysgenesis in females, sensorineural deafness in both males and females, and in some patients, neurological manifestations. Research helps us better understand diseases and can lead to advances in diagnosis and treatment. Koichi Kawakami. The management of individuals with disorders of sexual development can be complex. gonadal dysgenesis Pronunciation: (goh-NA-dul dis-JEH-neh-sis) Abnormal development of a gonad (ovary or testicle). Surgical Treatment There is no cure for 46,XX Gonadal Dysgenesis Epibulbar Dermoid Syndrome. Research Research Listen. Women have a normal 46,XX karyotype with lack of onset of puberty, primary amenorrhea, and infertility similar to Turner syndrome. How is 46,XX Gonadal Dysgenesis Epibulbar Dermoid Syndrome Treated? Girls with MGD may need treatment with estrogen at puberty. Signs and symptoms vary among those affected. Gonadal dysgenesis is the failure of typical sexual development due to chromosomal and developmental errors. One estimate placed the incidence at 1 in 80,000 births. ... cure or treatment … It is characterized by the failed development of the sex glands (i.e. The diagnosis of mixed gonadal dysgenesis was confirmed by exploratory laparotomy and bilateral gonadectomy. They typically have normal female external genitalia, identify as female, and are raised as girls.. XY gonadal dysgenesis, also known as Swyer syndrome, is a type of hypogonadism in a person whose karyotype is 46,XY. Gonadal dysgenesis is a term used for a unique subset of disorders of sexual development characterized by incomplete or defective formation of the gonads (ovary or testis) due to either structural or numerical anomalies of the sex chromosomes or mutations in the genes involved in the development of the gonad. With estrogen treatment, female puberty can be achieved. XX gonadal dysgenesis-Wikipedia Thereafter, patients must be observed by an endocrinologist, who supplements any deficiencies in gonadal or adrenal function. Gonadal … The prevalence of DSD is very low, but affected patients deserve individualized management to improve psychological, sexual, and … Pathology. The gonadal dysgenesis is either XX gonadal dysgenesis or XY gonadal dysgenesis. Patients with mixed gonadal dysgenesis receive hormone replacement therapy depending on their gender. Males need treatment depending on level of testicular insufficiency. To prevent the development of malignancy in patients with XY gonadal dysgenesis, gonadectomy typically is recommended. 15,20,70 The clitoris is usually quite hypertrophied. Here we present a 15-year-old girl with mixed GCT and GD who also developed an intraabdominal synovial sarcoma one year after the treatment. Categories: 123 September 17, 2017 46, XX Gonadal Dysgenesis Epibulbar Dermoid – Definition, Causes, Symptoms, Diagnosis, Treatment, Home Remedies, and Prevention New York (USA), September 17, 2017 Definition, Diagnosis, and Pathophysiology of 46, XX [theteamwork.com] The team will talk about treatment options with the family . Treatment with estrogen will promote breast and sexual development, overall growth and strong bones. complete gonadal dysgenesis (CGD) / Swyer syndrome mixed gonadal dysgenesis (MGD) In Turner syndrome, cells are missing all or part of an X chromosome. TURNER’S SYNDROME (GONADAL DYSGENESIS; 45,X) Pathophysiology Approximately one-half of women with TS have a 45,X karyotype, about 20% have 45,X/46,XX mosaicism, and the remainder have structural abnormalities of the X chromosome such as X fragments, isochromosomes, or rings. XX gonadal dysgenesis is a type of female hypogonadism in which no functional ovaries are present to induce puberty in an otherwise normal girl whose karyotype is found to be 46,XX. Gonadal dysgenesis . The chance of tumor development in Swyer syndrome is 20e30%. Typically, at least one gonad is either dysgenetic or a streak. Most commonly, a female with Turner syndrome has only 1 X chromosome. There is usually a functioning gonad (testis or ovary) on one side and an atypical, non-functioning gonad or "streak" on the other side. Research helps us better understand diseases and can lead to advances in diagnosis and treatment. Aim: We present our experience of complicated diagnosis, gender assignment and surgical management of sexual ambiguity in 46 XY mixed gonadal dysgenesis. Gonadal dysgenesis, 46,XY: Abstract: Birth of child with ambiguous genitalia is the great challenge to the parents and medical staff. Hong-Yi Gong. Atypical presentation and management dilemma of mixed gonadal dysgenesis. Hormonal Stimulation in a Gonadal Dysgenesis Mare. A homozygous missense NUP107 variant has also been reported to cause XX female gonadal dysgenesis (Weinberg-Shukron et al. Gonadal dysgenesis is a disorder in which a baby is born with two different gonads, which disrupts the normal production of … NIH GARD Information: Gonadal dysgenesis Turner type. testicles or ovaries). Wu Jen-Leih. The following are some treatment methods for 46,XX Gonadal Dysgenesis Epibulbar Dermoid Syndrome: Nine of these 23 patients were diagnosed as 46,XY gonadal dysgenesis, 7 patients had ovotesticular DSD, 5 patients had 45,X/46,XY mixed gonadal dysgenesis. Overview. Fourteen patients with disorders of gonadal development had genital ambiguity, 5 patients had a female genital phenotype with a palpable gonad and/or delayed puberty. HUTCHINGS, MD; ROBERTO F. ESCAMILLA,MD; CHOHHAO LI, PhD; AND PETER H. FORSHAM, MD, SAN FRANCISCO HUMAN growth hormone (HGH) ad- ministeredto childrenwithhypopituitarismhas an anabolic effect and increases the rate of linear growth without undue stimulation of … Gonadal dysgenesis is usually part of a genetic syndrome. Partial gonadal dysgenesis can be classified as either 46,XY DSD or sex chromosome DSD if there is mosaicism (45,X/46,XY). Gonadal dysgenesis is a term used for a unique subset of disorders of sexual development (DSD) [] characterized by incomplete or defective formation of the gonads (ovary or testis) due to either structural or numerical anomalies of the sex chromosomes or mutations in the genes involved in the development of the gonad [].Dysgenetic gonads are characterized by variable degrees … Suggested improvement in ultimate height in girls with chromosomal gonadal dysgenesis after treatment with androgenic anabolic steroids has, in the past, been reported by comparison to a standard of 140 cm (55.2 in) from a group of patients of mixed karyotypes without androgen treatment. 2015). However, the clinical outcomes in terms of gonadal histophysiology and genital anatomy are similar, and finally depend on the amount of functional testicular tissue that has developed. Disorders of sex development (DSD) are a wide-ranging group of complex conditions that influence chromosomal, gonadal, and phenotypic sex. Introduction. ultrasonography, magnetic resonance imaging, or laparoscopy, it may be easily overlooked. The residual gonadal tissue often becomes cancerous, so it is usually removed surgically early in life. Men with gonadal dysgenesis have a greater risk of developing testicular cancer. They also have retained müllerian structures. XX gonadal dysgenesis is a type of female hypogonadism in which no functional ovaries are present to induce puberty in an otherwise normal girl whose karyotype is found to be 46,XX. Gonadal dysgenesis Treatment. Due to gonadal dysgenesis and ovarian dysfunction, patients with 46,XY CGD are often diagnosed due to primary amenorrhea at puberty. This phenomenon resulted from gonadal dysgenesis, and it … Phenotypic females with normal chromosomal complements (46,XX or 46,XY) may have gonadal failure. The exact incidence is unknown. Mixed gonadal dysgenesis is a sex developmental disorder where the gonads are abnormal from there being some cells with XY chromosomes and some with just a single X (chromosome Y mosaicism). Patients with pure gonadal dysgenesis/agenesis are often short in stature with primary or secondary amenorrhea. The treatment is usually given to manage the signs and symptoms and any complications that develops. Download with Google Download with Facebook. Gonadal dysgenesis is usually part of a genetic syndrome. gonadal dysgenesis: [ dis-jen´ĕ-sis ] defective development; see also dysplasia and malformation . The most common tumor described is bilateral gonadoblastoma, but also seen are dysgerminoma and even embryonal carcinoma. Both patients presented with primary amenorrhea and were characterized by tall stature and underdeveloped secondary sex characteristics and external and internal reproductive organs. Consultation Liaison Psychiatry on Case Management of Children with Mixed Gonadal Dysgenesis Mosaicism 45X (60%) and 46XY (40%) ... role of psychiatrists in the management of DSD cases has been recognized and stated in the joint consensus for the treatment of individuals with DSD since 2006. Marine Biotechnology. Individuals with the syndrome are characterized by 46, XY karyotype and phenotypically female with female genital appearance, normal Müllerian structures and absent testicular tissue. Gonadal Dysgenesis Results in Infertility. Source: NCI Dictionary of … External appearance may be identical in the two situations, and gonadal findings similarly indistinguishable from 45,X gonadal dysgenesis (Turner syndrome). This section provides resources to help you learn about medical research and ways to get involved. Mixed gonadal dysgenesis (MGD) is a subtype of the disorders of sex development (DSD) associated with sex chromosome abnormalities. Genital anomalies in … Gonadal Dygenesis comprises a clinical spectrum of anomalies in patients with female, ambiguous or male phenotype, absent or impaired puberty and karyotype with or without Y chromosome. The presentation of Swyer syndrome is that of a tall female with a normal childhood and development until puberty, which is characterized by primary amenorrhea and no development of secondary sexual characteristics. Two cases of gonadal dysgenesis in phenotypic females associated with different chromosomal patterns are discussed. Please check back for future updates. However, the literature reports fewer than 12 full-term pregnancies in patients with Swyer syndrome (. 2. turner's syndrome and its variants. gonadal dysgenesis 1. defective development of the gonads . Read this chapter of Quick Medical Diagnosis & Treatment 2021 online now, exclusively on AccessMedicine. XX gonadal dysgenesis is related to the Swyer syndrome inasmuch as both conditions have the same phenotype and clinical issues; however in Swyer syndrome the karyotype is 46,XY, and thus gonadectomy is recommended. Gonadal dysgenesis is a term used for a unique subset of disorders of sexual development characterized by incomplete or defective formation of the gonads (ovary or testis) due to either structural or numerical anomalies of the sex chromosomes or mutations in the genes involved in … Hong-Yi Gong. Gonadal dysgenesis is the name given to any of a multitude of conditions that can cause impaired development of the gonads, i.e., the testes or ovaries .The most notable of these conditions is Turner syndrome, a disorder affecting 1 in every 2500 live female births, with an array of associated symptoms and complications .. They may need blood tests to check their hormone levels. It is usually defined as congenital hypogonadism related to abnormalities of the sex chromos o mes. Pure gonadal dysgenesis is seen in a phenotypic female with 46, XY karyotype (Swyer syndrome), bilateral streak gonads, and persistent Müllerian structure. Patients with 46, XY pure gonadal dysgenesis are at a higher risk of developing gonadoblastoma and dysgerminoma. Tien-fu Liao. Objective: To investigate the clinical features, therapeutic regimens and follow-up information of patients with 45, X/46, XY mixed gonadal dysgenesis in order to improve the diagnosis and treatment of the disease. Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system in the male or female. Methods: We performed a retrospective review of patients with 45, X/46, XY mosaicism hospitalized in Chinese PLA General Hospital between 2000 and 2014. Larentis GR, Bastos HBdA, Centeno LAM, Bueno VLC, Bringel BA, Mattos RC. Patients with coexistence of GCT and GD have been reported previously. Research Research Listen. Surgical Care. XY gonadal dysgenesis, also known as Swyer syndrome, is a type of hypogonadism in a person whose karyotype is 46,XY. The clinical features of TS Mixed-gonadal dysgenesis, or MGD, is a rare condition in which the paired internal gonads (testis or ovary) are different on each side. They typically have normal female external genitalia, but functionless gonads (fibrous tissue termed "streak gonads"), and if left untreated, will not experience puberty.Such gonads are typically surgically removed (as they have a significant risk of developing cancer). Wu Jen-Leih. The syndrome is a disorder of sex development (DSD) that comprises any chromosomal, anatomic or gonadal abnormalities in sex development. After the DSD or other high-risk condition is characterized, the treatment of gonadoblastoma is surgical. Pei-Yu Lin. Tien-fu Liao. After the DSD or other high-risk condition is characterized, the treatment of gonadoblastoma is surgical. Müllerian agenesis, also referred to as müllerian aplasia, Mayer–Rokitansky–Küster–Hauser syndrome, or vaginal agenesis, has an incidence of 1 per 4,500–5,000 females 1. Gonadal dysgenesis may arise from early defects of gonadal primordium formation, or from specific defects in differentiation of the testis or the ovary. Gonadal Dysgenesis, XX Type Treatment Estrogen and Progesteron therapy are usually advised to be undertaken by the person with this medical condition. Abstract: Patients with complete XY gonadal dysgenesis (GD) show a high predisposition to germ cell tumors (GCT). Multifetal pregnancy in a gonadal dysgenesis mosaic. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. Swyer syndrome is a disorder where sex glands - ovaries or testes - fail to develop normally. As the patients with gonadal dysgenesis have low level of estrogen in their body and elevated level of FSH and LH. Subtypes. Abstract Among 24 patients with gonadal dysgenesis who had been treated for five or more years with stilbestrol, endometrial carcinoma developed in two and possibly in a third. Related websites MIM i › phenotype [ MIM ... diagnosis, treatment or care. Diagnosis: full clinical fertility examination, palpation per rectum, blood testing. Treatment: no treatment is possible. Prognosis: confirmed gonadal dysgenesis are usually infertile; some mosaic types may be capable of limited breeding. Mutations in the N-terminus or C-terminus of the SRY gene often result in 46,XY PGD. Others may have 2 X chromosomes, but one of them is incomplete. Here, we report the case of a patient with mixed gonadal dysgenesis, in whom the presence of a uterus could not be confirmed before the initiation of estrogen replacement therapy gonadal dysgenesis Pronunciation: (goh-NA-dul dis-JEH-neh-sis) Abnormal development of a gonad (ovary or testicle). Nitroreductase-mediated Gonadal Dysgenesis for Infertility Control of Genetically Modified Zebrafish. Introduction . Müllerian agenesis is caused by embryologic underdevelopment of the müllerian duct, with … Case Report . Koichi Kawakami. No overview is available at this time. These conditions represent a spectrum of disorders in which the gonads are abnormally developed. With nonfunctional streak ovaries she is low in estrogen levels (hypoestrogenic) and has high levels of FSH and LH.Estrogen and progesterone therapy is usually then commenced. Many of these animals have gonadal dysgenesis or 'testicular feminization' and, unlike monosomy, they are heritable. So the drugs for the elevation of estrogen hormone are prescribed. The karyotype of the testicular tissue revealed 45,XO in 32 out of 40 and 46,XY in the remaining 8 cells. Partial gonadal dysgenesis. This section provides resources to help you learn about medical research and ways to get involved. With estrogen treatment, female puberty can be achieved. With nonfunctional streak ovaries, she is low in estrogen levels (hypoestrogenic) and has high levels of FSH and LH.Estrogen and progesterone therapy is usually then commenced. Chapter 3 - Gonadal dysgenesis: ovarian function and reproductive health in Turner syndrome By Paul Saenger , David Rodriguez-Buritica Edited by Liane Deligdisch , Nathan G. Kase , Carmel J. Cohen The fertility prognosis is unfortunately compromised. This results in a wide range of male/female genitalia that are not typically, or … Gonadal dysgenesis . They typically have normal female external genitalia, but functionless gonads (fibrous tissue termed "streak gonads"), and if left untreated, will not experience puberty.Such gonads are typically surgically removed (as they have a significant risk of developing cancer). Swyer syndrome, also known as 46, XY complete (pure) gonadal dysgenesis (CGD), is a rare congenital disorder of sex development.
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