Incidence, Prevalence, Diagnostic Delay, and Clinical Presentation of Female 46,XY Disorders of Sex Development

Berglund, Agnethe; Johannsen, Trine Holm; Stochholm, Kirstine; Viuff, Mette; Fedder, Jens; Main, Katharina M.; Gravholt, Claus Højbjerg

doi:10.1210/jc.2016-2248

Cited by 83 publications

(75 citation statements)

References 31 publications

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“…The first testis-determining factor, the sex determining region Y (SRY), was discovered in 1990 [19] and to date, over 90 different mutations within this gene have been identified within the high mobility group (HMG) box domain [20] as well as beyond [21]. SRY variants cause CGD in less than 15% of cases [22] whereas the prevalence of this condition is only 1.2 per 100 000 [23].…”

Section: Causes Of 46 Xy Dsdmentioning

confidence: 99%

Genetic testing of XY newborns with a suspected disorder of sex development

Alimussina

Diver

McGowan

et al. 2018

Current Opinion in Pediatrics

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Considering that children and adults with DSD may be at risk of several comorbidities a clear aetiological diagnosis will guide further management. To date, a firm diagnosis is not reached in over half of the cases of 46,XY DSD. Whilst it is likely that improved diagnostic resources will bridge this gap in the future, the next challenge to the clinical community will be to show that such advances will result in an improvement in clinical care.

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Section: Causes Of 46 Xy Dsdmentioning

confidence: 99%

Genetic testing of XY newborns with a suspected disorder of sex development

Alimussina

Diver

McGowan

et al. 2018

Current Opinion in Pediatrics

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“…Consequently the individual will externally look like a female with fully developed breasts and labial folds. [17] Contrastingly, in congenital adrenal hyperplasia (CAH) the individual is genetically a female with 46XX and gonads are typically ovaries; but due to deficiency of steroidogenic enzymes excess testosterone is produced thereby leading to virilization. Therefore, girls with CAH will have fused labia mimicking scrotum and hypertrophied clitoris mimicking penis.…”

Section: Misconceived Duality Of Sexesmentioning

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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“…The estimated prevalence of AIS is 4.1 per 100,000 live born females (1). Testes develop in the presence of the Y chromosome, but the lack of androgen receptor activity results in a typical female phenotype.…”

Section: Introductionmentioning

confidence: 99%

“…The anti-Mullerian hormone produced by the gonads causes regression of the uterus, cervix and proximal vagina during foetal development. Common clinical presentations include inguinal or labial hernia in childhood or primary amenorrhoea in adolescence (1). CAIS may also present through screening after a family member is affected or discordance between prenatal sex prediction and phenotype at birth (1).…”

Section: Introductionmentioning

confidence: 99%

“…Hormone replacement therapy (HRT) is required after gonadectomy in order to maintain secondary sexual characteristics, bone and cardiovascular health and to promote general wellbeing and sexual function. In the study by Berglund and coworkers, 64/78 women with AIS were on HRT and the median age at first prescription of HRT was 14 years (1). Sex steroid replacement has traditionally been based on types of oestrogen, but there is increasing interest from user groups in the use of testosterone, which in this situation is used as a prohormone providing oestradiol via aromatisation.…”

Section: Introductionmentioning

confidence: 99%

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Hormone replacement treatment choices in complete androgen insensitivity syndrome: an audit of an adult clinic

King

Williams

et al. 2017

Endocrine Connections

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ObjectiveTo review the treatment choices of women with complete androgen insensitivity syndrome (CAIS) at a single tertiary centre.DesignRetrospective review.PatientsWomen with CAIS identified from our database.ResultsThe study group comprised 141 women with CAIS. Eleven percent (16/141) of women had gonads in situ, 3 of whom were under workup for gonadectomy. The age of gonadectomy in the remainder 125 women was 17 (0.1–53) years. The most common form of HRT was oral oestrogen or transdermal oestrogen in 80% (113/141). 13/141 (9%) women used vaginal oestrogens alone or together with other forms of HRT. Testosterone preparations had been used by 17% (24/141) of women and were currently used in 10% (14/141). Of those who had used testosterone, 42% (10/24) had chosen not to continue after a therapeutic trial.ConclusionsIn a clinic offering individualised multidisciplinary care for women with CAIS, we found that the majority of women chose oestrogen-based treatment while a significant minority used testosterone.

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Incidence, Prevalence, Diagnostic Delay, and Clinical Presentation of Female 46,XY Disorders of Sex Development

Cited by 83 publications

References 31 publications

Genetic testing of XY newborns with a suspected disorder of sex development

Genetic testing of XY newborns with a suspected disorder of sex development

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

Hormone replacement treatment choices in complete androgen insensitivity syndrome: an audit of an adult clinic

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