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Journal of the Royal Society of Medicine May 2001
Review
Topics: Adaptation, Psychological; Adolescent; Adult; Child, Preschool; Disorders of Sex Development; Female; Gender Identity; Humans; Infant; Infant, Newborn; Male; Patient Satisfaction; Practice Guidelines as Topic; Self-Help Groups; Vagina
PubMed: 11385087
DOI: 10.1177/014107680109400505 -
International Journal of Impotence... Feb 2023Surgical interventions on infants with intersex characteristics are considered justified by some on the grounds that they carry a high risk of intolerable stigma.... (Review)
Review
Surgical interventions on infants with intersex characteristics are considered justified by some on the grounds that they carry a high risk of intolerable stigma. However, public understanding of intersex and its medicalization are under-researched. We review recent qualitative and quantitative studies of the understandings of intersex and its medicalization among people who have no particular professional or public experience of intersex. First, such laypeople reason about clinical dilemmas by drawing on values in similar ways as expert healthcare professionals do. Second, laypeople can over-estimate the utility of current 'umbrella terms,' including intersex, for people with direct familial experience of intersex. Third, beliefs about good and bad effects of medical intervention are affected by framing intersex as either a medical condition or the natural basis for a social identity. Fourth, sexual identity is the best evidenced predictor of opinions about early surgical intervention and its legal limitation on human rights grounds. We argue that possible stigmatizing reactions from the public may not be a solid basis on which to justify early surgical intervention on intersex characteristics.
Topics: Humans; Disorders of Sex Development; Gender Identity
PubMed: 35031713
DOI: 10.1038/s41443-021-00485-w -
Zhejiang Da Xue Xue Bao. Yi Xue Ban =... Jun 2019Disorders of sex development (DSD) refer to a group of diseases characterized by abnormal congenital development of chromosomes, gonad or genitals with different... (Review)
Review
Disorders of sex development (DSD) refer to a group of diseases characterized by abnormal congenital development of chromosomes, gonad or genitals with different pathophysiological changes and clinical manifestations. DSD is more common in neonates and adolescents, and neonates often show genital abnormalities while adolescents show abnormal sexual development during puberty. It is the international consensus that the scope of DSD should include basic clinical evaluation (internal and external genitalia and endocrine hormones), diagnostic confirmation (chromosome, genetic diagnosis), psychological assessment for children and family, treatment (sex assignment, hormone replacement and surgical intervention), potential fertility protection and long-term follow-up, which require the expertise of pediatric endocrinology, pediatric urology, clinical psychology, genetic disciplines, medical images and other related disciplines; that is, individualized management of children with DSD requires an experienced multidisciplinary team (MDT). This article reviews the recent progress on the evaluation, diagnosis and management of disorders of sex development.
Topics: Consensus; Disorders of Sex Development; Humans; Medicine; Sexual Development
PubMed: 31901037
DOI: 10.3785/j.issn.1008-9292.2019.08.02 -
Journal of the National Medical... Jul 1957
Topics: Disorders of Sex Development; Humans; Medical Records; Ovotesticular Disorders of Sex Development
PubMed: 13439384
DOI: No ID Found -
Indian Pediatrics Jan 2005
Topics: Adrenogenital Syndrome; Child; Disorders of Sex Development; Fever; Humans; Male
PubMed: 15695866
DOI: No ID Found -
Journal of Pediatric Endocrinology &... Jan 2017
Topics: Disorders of Sex Development; Humans; Prognosis
PubMed: 28072568
DOI: 10.1515/jpem-2016-0452 -
Organogenesis Oct 2016Sex assignment in newborns depends on the anatomy of the external genitalia, despite this stage being the final in embryogenesis. According to the current view, the...
Sex assignment in newborns depends on the anatomy of the external genitalia, despite this stage being the final in embryogenesis. According to the current view, the genital tubercle is the embryonic precursor of penis and clitoris. It originates from mesenchymal tissue, but mesenchymal cells are arranged across the embryonal body and do not have specific androgen receptors. The nature of the signal that initiates early derivation of the indifferent genital tubercle is unknown at present. The aims of this article are to improve surgical management of intersex disorders and investigate the development of the genital tubercle. Clinical examination of 114 females with various forms of DSD revealed ambiguous (bisexual) external genitalia in 73 patients, and 51 of them underwent feminizing surgery. Intersexuality (ambiguity) in 46,XY patients results from disruptors in the pathways of sex steroid hormones or receptors; in 46,XX females arises from excessive levels of androgens. Systematization of intersex disorders distinguishes the karyotype, gonadal morphology, and genital anatomy to provide a differential diagnosis and guide appropriate surgical management. Modified feminizing clitoroplasty with preservation of the dorsal and ventral neurovascular bundles to retain erogenous sensitivity was performed in females with severe virilization (Prader degree III-V). The outgrowth of the genital tubercle and the fusion of the urethral fold proceed in an ordered fashion; but in some cases of ambiguity, there was discordance due to different pathways. Speculation about the derivation of the genital tubercle have discussed with a literature review. The genital tubercle derives from the following 3 layers: the ectodermal glans of the tubercle, the mesodermal corpora cavernosa and the endodermal urogenital groove. According to the new hypothesis, during the indifferent stages, the 5 sacral somites have to recede from their segmentation and disintegrate: the sclerotomes form the pelvic bones, the fused myotomes follow with their genuine neurotomes and the angiotomes join to the corpora cavernosa of the genital tubercle. Sexual differentiation of external genitalia is final in gender embryogenesis, but surprisingly derivation of the indifferent genital tubercle from 5 somites occurs before gonadal and internal organs development.
Topics: Adolescent; Disorders of Sex Development; Female; Humans; Infant, Newborn; Male; Models, Biological; Sex Determination Processes; Testis; Young Adult
PubMed: 27391116
DOI: 10.1080/15476278.2016.1210749 -
American Journal of Medical Genetics.... May 2023CHD7 disorder is a multiple congenital anomaly syndrome with a highly variable phenotypic spectrum, and includes CHARGE syndrome. Internal and external genital...
CHD7 disorder is a multiple congenital anomaly syndrome with a highly variable phenotypic spectrum, and includes CHARGE syndrome. Internal and external genital phenotypes frequently seen in CHD7 disorder include cryptorchidism and micropenis in males, and vaginal hypoplasia in females, both thought to be secondary to hypogonadotropic hypogonadism. Here, we report 14 deeply phenotyped individuals with known CHD7 variants (9 pathogenic/likely pathogenic and 5 VOUS) and a range of reproductive and endocrine phenotypes. Reproductive organ anomalies were observed in 8 of 14 individuals and were more commonly noted in males (7/7), most of whom presented with micropenis and/or cryptorchidism. Kallmann syndrome was commonly observed among adolescents and adults with CHD7 variants. Remarkably, one 46,XY individual presented with ambiguous genitalia, cryptorchidism with Müllerian structures including uterus, vagina and fallopian tubes, and one 46,XX female patient presented with absent vagina, uterus and ovaries. These cases expand the genital and reproductive phenotype of CHD7 disorder to include two individuals with genital/gonadal atypia (ambiguous genitalia), and one with Müllerian aplasia.
Topics: Humans; Male; Female; Cryptorchidism; Phenotype; CHARGE Syndrome; Disorders of Sex Development; Genitalia; DNA Helicases; DNA-Binding Proteins
PubMed: 36794641
DOI: 10.1002/ajmg.a.63148 -
Journal of Ultrasound Sep 2022Ultrasonography is usually the first modality used to evaluate patients with disorders of sex development (DSD). To determine the sex in patients with DSD, the following...
Ultrasonography is usually the first modality used to evaluate patients with disorders of sex development (DSD). To determine the sex in patients with DSD, the following four categories are carefully evaluated: chromosomal, gonadal, anatomical internal genitalia, and external genitalia. However, in the clinical setting, the only information that sonographers have prior to ultrasound examination is the appearance of the external genitalia. The following DSD presentations are commonly observed: (1) male external genitalia present at birth, without testis in the scrotum or with a small penis; (2) female external genitalia present at birth, with an inguinal hernia or clitoromegaly; (3) neonates with ambiguous genitalia at birth; and (4) female or male external genitalia without sexual maturity. In this retrospective study of several clinical cases, we demonstrated an ultrasound-based sex determination approach for these clinical presentations. We found that sonographers evaluated the external genitalia in relation to the distal urethra within the corpus spongiosum and corpus cavernosum and the presence or absence of follicles within the detected gonads to determine the sex of the patient.
Topics: Disorders of Sex Development; Female; Genitalia; Humans; Infant, Newborn; Male; Penis; Retrospective Studies; Ultrasonography
PubMed: 34988914
DOI: 10.1007/s40477-021-00632-5 -
Zhongguo Dang Dai Er Ke Za Zhi =... Dec 2016Disorder of sexual development or disorder of sex differentiation (DSD) refers to the inconsistency between karyotype and gonad phenotype and/or gonad anatomy in... (Review)
Review
Disorder of sexual development or disorder of sex differentiation (DSD) refers to the inconsistency between karyotype and gonad phenotype and/or gonad anatomy in neonates and is manifested as the difficulty in identifying neonates' sex. According to the karyotype, DSD is classified as 46,XY DSD, 46,XX DSD, and sex chromosome DSD. A combination of detailed medical history, physical examination, and laboratory and imaging examinations is required for the diagnosis and comprehensive assessment of neonatal DSD and the determination of potential causes in clinical practice. Sex identification can only be made after all diagnostic evaluations have been completed. Sex identification of DSD neonates is influenced by various medical and social factors, including genotype (karyotype), sex hormones (levels of testosterone, dihydrotestosterone, and adrenal steroids), sex phenotype (appearance of internal and external genitals), reproduction (fertility potential), feelings of their parents, and even social acceptance and religious customs. A team with multidisciplinary cooperation is required, and patients must be involved in the whole process of sex identification. The major task of neonatal physicians for DSD is to assess the condition of neonates and provide management.
Topics: Disorders of Sex Development; Humans; Infant, Newborn; Physical Examination
PubMed: 27974129
DOI: 10.7499/j.issn.1008-8830.2016.12.023