Changing ethical and legal norms in the management of differences of sex development

Sudai, Maayan

doi:10.1016/s2213-8587(17)30043-8

Cited by 8 publications

(3 citation statements)

References 7 publications

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“…In the last years, changing ethical and legal norms in managing differences of sex development have also been observed. Sudai describes a change in attitude from the gender natural identity theory allowing early decision-making in infants with DSD to a more restricted approach where patient’s autonomy and the decision became more important ( 14 ). Current guidelines emphasize the need for highly specialized multidisciplinary teams and psychosocial support for patients and their families.…”

Section: Discussionmentioning

confidence: 99%

Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country

et al. 2022

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BackgroundCongenital Adrenal Hyperplasia (CAH) due to CYP11B1 is a rare autosomal recessive adrenal disorder that causes a decrease in cortisol production and accumulation of adrenal androgens and steroid precursors with mineralocorticoid activity. Clinical manifestations include cortisol deficiency, ambiguous genitalia in females (differences of sex development (DSD)), and hypertension. Medical treatment recommendations are well defined, consisting of glucocorticoid treatment to substitute glucocorticoid deficiency and consequently normalize adrenal androgen and precursors levels. Current guidelines also emphasize the need for specialized multidisciplinary DSD teams and psychosocial support. In many developing countries, care for DSD patients, especially when caused by an adrenal disease, is challenging due to the lack of infrastructure, knowledge, and medication.ObjectiveThe study aims to report the conflicting decision-making process of medical treatment and sex assignment in late-identified CAH patients in developing countries.MethodsWe describe the clinical and biochemical findings and the psychological assessment of five affected but untreated family members with CAH due to CYP11B1 deficiency.ResultsAll patients had a 46,XX karyotype, ambiguous genitalia, low cortisol levels, and hypertension. Two identified as males, two as females, and one had undecided gender. The patients were counselled that refusing treatment will lead to infertility and the potential risk of developing Addisonian crisis and severe hypertension. However, all 46,XX CAH males refused treatment with glucocorticoids due to the expected lowering of adrenal androgens as their main source of testosterone. None of the patients developed Addisonian crisis, probably due to some residual cortisol activity and glucocorticoid activity of elevated adrenal steroid precursors.ConclusionMedical treatment and sex assignment in late-identified 46,XX CAH patients in Indonesia may often depend on local and cultural factors. The management of DSD conditions may have to be individualized and integrated into the psychological and social context of the affected family.

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Section: Discussionmentioning

confidence: 99%

Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country

et al. 2022

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“…Additionally, patients and families need accurate information on diagnosis and prognosis to make complex decisions on rearing sex, and clinical and surgical treatment [33][34][35]. These challenges are even higher in countries with abyssal inequities, such as Brazil, where patients' pilgrimage is usually arduous.…”

Section: Molecular and Genetic Studies Provisionmentioning

confidence: 99%

So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity

Filho

Petroli

Soardi

et al. 2021

Preprint

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The Congenital Adrenal Hyperplasia due to 21 hydroxylase deficiency is the most common cause of genital ambiguity in persons with XX sexual chromosomes. Genital ambiguity among persons with XY sexual chromosomes comprises diverse and rare etiologies. The deficiency of 17-beta-hydroxysteroid dehydrogenase type 3 enzyme (HSD17B3) is a rare autosomal recessive disorder due to functionally altered variants of the HSD17B3 gene. In this disorder/difference of sex development, the conversion of androstenedione into testosterone is impaired. The appearance of external genitalia of 46,XY individuals varies from typically male to almost female. We report on a child presenting severe ambiguous genitalia. Due to access constraints, specialized care did not start until the child was 10 months old. Parents are consanguineous and were born in an area of high isonymy that is a cluster for rare recessive diseases. A new homozygous missense variant c.785G > T was found in exon 10 of the HSD17B3 gene. Researchers-clinicians and researchers-researchers collaborative efforts to elucidate the genetic basis of this disease were critical since this etiologic investigation is not available through the public health system. This case exemplifies the families’ pilgrimage in cases of genital ambiguity due to a rare genetic condition. Recognizing the etiology was the baseline to provide information on prognosis and treatment options, and to shelter family and child doubts and hopes in order to better support their decisions.

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“…Doctors have even been sued for alleged impropriety of sex reassignments. [9,10] This volatile atmosphere was feared to adversely affect the wellbeing of affected individuals. Therefore, in 2005, a consensus conference was organized in Chicago to unify the views of various stakeholders.…”

Section: Introductionmentioning

confidence: 99%

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

Raveenthiran

2017

J Neonat Surg

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How to cite: Raveenthiran V. Neonatal sex assignment in disorders of sex development: A philosophical introspection. J Neonat Surg. 2017; 6:58.This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. ABSTRACTManagement 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.

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Changing ethical and legal norms in the management of differences of sex development

Cited by 8 publications

References 7 publications

Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country

Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country

So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity

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

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