scholarly journals Neonatal Sex Assignment in Disorders of Sex Development: A Philosophical Introspection

2017 ◽  
Vol 6 (3) ◽  
pp. 58 ◽  
Author(s):  
V Raveenthiran
Keyword(s):  
Gender Bias ◽  
Personal Experience ◽  
Disorders Of Sex Development ◽  
Ambiguous Genitalia ◽  
Third Parties ◽  
Sex And Gender ◽  
Sex Development ◽  
Consensus Conferences ◽  
Sex Assignment ◽  
And Gender

Management of ambiguous genitalia is highly controversial. This condition was known previously as intersex and presently as disorders of sex development (DSD). There is no consensus regarding the choice, timing and method of sex assignment in neonates with DSD. Consensus conferences could not unify the views of various stakeholders and third parties. This article philosophically examines the nature and origin of such controversies. Misconception, bias and conflicting priorities are identified as the three cardinal sources of controversies. Conceptual duality of sexes, confused notion of sex and gender, bias towards penetrative intercourse, conflict between utopian ideals and reality, unwillingness to compromise are identified as perpetuators of controversies. Suggestions are made regarding sex assignment in various types of DSD based on the understanding of published literature and the author’s personal experience.

Intersex

Sociology ◽  
2020 ◽  
Author(s):  
Morgan Carpenter
Keyword(s):  
Human Rights ◽  
Disorders Of Sex Development ◽  
Cultural Norms ◽  
Human Rights Violations ◽  
Sex Characteristics ◽  
Sex And Gender ◽  
Sex Development ◽  
High Commissioner ◽  
Values And Beliefs ◽  
And Gender

Intersex people are described by United Nations institutions as born with variations of sex characteristics that differ from medical and social norms for female or male bodies (see, for example, the 2019 report “Human Rights Violations against Intersex People,” by the Office of the High Commissioner for Human Rights). These variations are diverse and innate. Intersex human rights defenders and human rights institutions challenge the stigma and discrimination that intersex people face because of their physical variations, but few jurisdictions so far have tackled the human rights violations that intersex people suffer. There are multiple additional, contested, and incommensurate lenses through which intersex people are viewed. These express different values and beliefs about the same people, including their meaning, treatment, concerns, and demands. Medical lenses view intersex traits as “disorders of sex development” (DSD), and people with those traits are viewed as female or male and subjects for treatment. Anthropology and queer and gender studies have viewed intersex as an illustration of fallacies that underpin subjective cultural norms for sex and gender. Law increasingly views intersex people as members of a third sex. Historical research shows that intersex people, often termed hermaphrodites, have always existed, and often been accommodated.

Parents’ experiences of having a baby with ambiguous genitalia

2015 ◽  
Vol 28 (7-8) ◽  
Author(s):  
Mailme de Souza Oliveira ◽  
Roberto Benedito de Paiva-e-Silva ◽  
Gil Guerra-Junior ◽  
Andréa Trevas Maciel-Guerra
Keyword(s):  
Health Professionals ◽  
Disorders Of Sex Development ◽  
Ambiguous Genitalia ◽  
Initial Management ◽  
Sex Development ◽  
Personal Belief ◽  
Sex Assignment ◽  
Previous Assignment ◽  
The Moment ◽  
The Impact

AbstractHealth professionals must be aware of the impact on parents of the birth of children with ambiguous genitalia. This study aimed to analyze the experiences and perceptions of such parents. Parents of 30 children who were evaluated in a reference center for disorders of sex development (DSD) were interviewed. The questionnaire covered the prenatal period, the moment they were told about the disorder, initial management by health professionals, and problems they experienced. Only two cases were detected during pregnancy. The news was usually given to the mother alone by pediatricians. Most parents kept it secret and avoided exposing the baby to the prejudice of others. Parents of children who were referred without sex assignment usually held a personal belief of their child’s sex. Previous assignment was based on clinical examination and/or karyotype. Spreading knowledge about DSD could increase awareness of this issue, thus reducing parents’ shock and societal stigma. Training of neonatal care teams is required to avoid assignment before evaluation.

scholarly journals Genital ambiguity in a 46,XY individual: case report

2020 ◽  
Vol 10 (3) ◽  
Author(s):  
Jadi Colaço ◽  
Andressa Tochetto ◽  
Amanda Magdaleno ◽  
Carolina Moreira ◽  
Tadiela Rodrigues ◽  
...  
Keyword(s):  
Intrauterine Growth Restriction ◽  
Disorders Of Sex Development ◽  
Individual Case ◽  
Ambiguous Genitalia ◽  
Intrauterine Growth ◽  
Individual Case Report ◽  
Sex Development ◽  
Sex Assignment ◽  
Genital Ambiguity ◽  
Male Sex

Genital ambiguity is part of the disorders of sex development. Its prompt recognition and early and precise etiological investigation are fundamental to its proper management. A patient with ambiguous genitalia, born cesarean due to severe pre-eclampsia and oligohydramnios at 34 weeks and 2 days, 1505g, considered small for gestational age (SGA). Examination showed an 1.9cm falus, penoscrotal urethral meatus and bilaterally palpable gonads. In the investigation, he presented normal testosterone (T), androstenedione (A) and dihydrotestosterone (DHT); T/DHT ratio of 9.7 (<10) and T/A of 7.4 (>0.8) and karyotype 46,XY. It was decided for male sex assignment. Testosterone stimulus test was performed, showing penis enlargement of 1.5cm. Intrauterine growth restriction is a considerable risk factor for genital ambiguity in individuals 46,XY. This seems to be the etiology in this case, given its normal hormonal and cytogenetic evaluation and the response to the testosterone stimulus. Disorders of Sex Development, Fetal Growth Retardation, Testis.

scholarly journals Genital ambiguity in a 46,XY individual: case report

2020 ◽  
Vol 10 (3) ◽  
Author(s):  
Jadi Colaço ◽  
Andressa Tochetto ◽  
Amanda Magdaleno ◽  
Carolina Moreira ◽  
Tadiela Rodrigues ◽  
...  
Keyword(s):  
Intrauterine Growth Restriction ◽  
Disorders Of Sex Development ◽  
Individual Case ◽  
Ambiguous Genitalia ◽  
Intrauterine Growth ◽  
Individual Case Report ◽  
Sex Development ◽  
Sex Assignment ◽  
Genital Ambiguity ◽  
Male Sex

Genital ambiguity is part of the disorders of sex development. Its prompt recognition and early and precise etiological investigation are fundamental to its proper management. A patient with ambiguous genitalia, born cesarean due to severe pre-eclampsia and oligohydramnios at 34 weeks and 2 days, 1505g, considered small for gestational age (SGA). Examination showed an 1.9cm falus, penoscrotal urethral meatus and bilaterally palpable gonads. In the investigation, he presented normal testosterone (T), androstenedione (A) and dihydrotestosterone (DHT); T/DHT ratio of 9.7 (<10) and T/A of 7.4 (>0.8) and karyotype 46,XY. It was decided for male sex assignment. Testosterone stimulus test was performed, showing penis enlargement of 1.5cm. Intrauterine growth restriction is a considerable risk factor for genital ambiguity in individuals 46,XY. This seems to be the etiology in this case, given its normal hormonal and cytogenetic evaluation and the response to the testosterone stimulus. Disorders of Sex Development, Fetal Growth Retardation, Testis.

Genome analyses and androgen quantification for an infant with 5α-reductase type 2 deficiency

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Kazuhisa Akiba ◽  
Keiko Aso ◽  
Yukihiro Hasegawa ◽  
Maki Fukami
Keyword(s):  
Disorders Of Sex Development ◽  
Reference Value ◽  
Ambiguous Genitalia ◽  
Chinese Patients ◽  
Sex Development ◽  
Liquid Chromatography Tandem Mass ◽  
Exon 1 ◽  
Genome Analyses ◽  
Immune Assays

Abstract Objectives 5α-reductase type 2 deficiency due to biallelic SRD5A2 variants is a common form of 46,XY disorders of sex development. Case presentation A Chinese neonate presented with ambiguous genitalia. He carried a homozygous likely_pathogenic SRD5A2 variant (c.650C>A, p.A217E). His apparently nonconsanguineous parents were heterozygotes for the variant. The variant has previously been identified in two Chinese patients. Our patient carried 14.2 Mb loss-of-heterogeneity regions distributed in the genome. The SRD5A2 variant in this family was invariably coupled with two polymorphisms in exon 1 and intron 1. In the patient, blood testosterone (T)/5α-dihydrotestosterone (5αDHT) ratios were elevated before and during mini puberty, and were higher when measured by liquid chromatography-tandem mass spectrometry (LC-MS/MS) than measured by conventional immune assays. Conclusions This study provides evidence for the founder effect of an SRD5A2 variant. Furthermore, our data indicate that there is a need to establish a new reference value for T/5αDHT ratios using LC-MS/MS.

Disorders of sex development

2017 ◽  
Author(s):  
David F.M. Thomas
Keyword(s):  
Disorders Of Sex Development ◽  
Ambiguous Genitalia ◽  
Surgical Reconstruction ◽  
Adrenal Hyperplasia ◽  
Specialist Care ◽  
Gender Assignment ◽  
Developmental Abnormalities ◽  
Sex Development

The aetiology of disorders of sex development (DSD) is multifactorial and includes chromosomal defects, developmental abnormalities of the gonads, and defects of hormonal synthesis and expression. Infants born with ambiguous genitalia require urgent investigation because of the risk of hyponatraemia associated with congenital adrenal hyperplasia (CAH) and to permit an informed decision on gender assignment. CAH is the commonest form of DSD, accounting for around 80% of all infants born with ambiguous genitalia. Despite controversy regarding timing and consent, feminizing genitoplasty in early childhood remains the accepted management for girls with significant clitoromegaly. Surgical reconstruction for 46XY DSD is guided by several factors, notably the size of the phallus and gonadal phenotype. The majority of individuals with disorders of sex development will require ongoing specialist care and long-term multidisciplinary follow-up and support.

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