The role of a clinical score in the assessment of ambiguous genitalia

Ahmed, SF; Khwaja, Omar; Hughes, Ieuan A.

doi:10.1046/j.1464-410x.2000.00354.x

Cited by 236 publications

(164 citation statements)

References 11 publications

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“…We chose to use the EMS as a method of describing and quantifying the extent of masculinization of the genitalia. 15 Although this is an objective method of assessing genitalia, it is still possible that there may have been some interindividual variation in documenting the score. However, the large data set that was available through the I-DSD registry would have minimized the influence of any error.…”

Section: Discussionmentioning

confidence: 99%

“…Of the 454 cases, 382 (84%) also had sufficient information about the external appearance of the genitalia at initial presentation and before any clinical intervention to calculate the external masculinization score (EMS), as previously described. 15 In 7 of 454 (1.5%) cases, sex reassignment at a later stage was reported, and in these cases the initial sex assignment was used for the analysis.…”

Section: Methodsmentioning

confidence: 99%

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Changes Over Time in Sex Assignment for Disorders of Sex Development

et al. 2014

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WHAT'S KNOWN ON THIS SUBJECT: XY disorders of sex development have a diverse etiology and often present with atypical genitalia in the newborn period. Sex assignment in those cases in whom this is marked genital ambiguity is a rare, challenging situation that requires multidisciplinary input. WHAT THIS STUDY ADDS:An international registry has shown temporal changes over the last 3 decades in the practice of sex assignment with a greater proportion of severely affected infants being raised as boys, raising the need for long-term monitoring of these children. abstract BACKGROUND AND OBJECTIVE: It is unclear whether the proportion of infants with a disorder of sex development who are raised as male or female has changed over time. The temporal trends in sex assignment of affected cases entered in the International Disorder of Sex Development (I-DSD) Registry were studied. METHODS:Cases of disorders of sex development reported as partial androgen insensitivity syndrome (PAIS; n = 118), disorder of gonadal development (DGD; n = 232), and disorder of androgen synthesis (DAS; n = 104) were divided into those who were born before 1990, 1990-1999, and after 1999. External appearance of the genitalia was described by the external masculinization score. RESULTS:The median (5th-95th percentile) external masculinization scores of those infants with PAIS, DGD, and DAS who were raised as boys were 6 (2-9), 6 (3-9), and 6 (1-12), respectively, and were significantly higher than in those raised as girls (2 [0-6], 2 [0-7], and 0 [0-5], respectively); this difference was maintained in the 3 temporal birth cohorts (P , .01). Of the 118 cases in the pre-1990 cohort, 41 (35%) were raised as boys; of the 148 cases in the 1990-1999 cohort, 60 (41%) were raised as boys; and of the 188 cases in the post-1999 cohort, 128 (68%) were raised as boys.

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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Changes Over Time in Sex Assignment for Disorders of Sex Development

et al. 2014

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“…A phenotype of ambiguous genitalia was considered to be present when the patient met the following criteria: 1) manifested genital ambiguity; 2) apparent female genitalia with an enlarged clitoris and labial fusion; and 3) apparent male genitalia with bilateral cryptorchidism, hypospadias or micropenis. 4 The findings relating to the external and internal genitalia were described based on the masculinization score suggested by Ahmed et al 5 and applied by Cools et al 6 With regard to cytogenetic data, the number of metaphases analyzed and their proportions were ascertained in accordance with the 45,X and 46,XY cell lines, in peripheral blood and gonadal tissues.…”

Section: Objectivementioning

confidence: 99%

“…Unfortunately, however, there is no consensus on what would be the best way of handling these patients. 11 Cools et al 6 stated that the masculinization score for the external genitalia that was suggested by Ahmed et al 5 could reflect both gonadal differentiation and the risk of tumors in patients with 45,X/46,XY mosaicism (malignancy risk seems to be inversely related to this score).…”

Section: X/46xy Mosaicism Can Be Detected In Individuals Withmentioning

confidence: 99%

45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study

Rosa

D'Ecclesiis²,

Dibbi

et al. 2014

Sao Paulo Med. J.

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CONTEXT AND OBJECTIVE: 45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. The aim of our study was to investigate the clinical and cytogenetic characteristics of patients with this mosaicism. DESIGN AND SETTING: A retrospective study in a referral hospital in southern Brazil. METHODS: Our sample consisted of patients diagnosed at the clinical genetics service of a referral hospital in southern Brazil, from 1975 to 2012. Clinical and cytogenetic data were collected from the medical records. RESULTS: Fourteen patients were included in the sample, with ages at the first evaluation ranging from 2 days to 38 years. Nine of them had female sex of rearing and five, male. Regarding the external genitalia, most were ambiguous (n = 10). One patient presented male phenotype and was treated for a history of azoospermia, while three patients presented female phenotype, of whom two had findings of Turner syndrome and one presented secondary amenorrhea alone.

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“…AISs in either the complete (CAIS) or partial (PAIS) form represent a relatively common presentation of 46,XY DSD [5–7]. CAIS and PAIS result in complete or partial end organ insensitivity to androgens, respectively.…”

Section: Androgen Insensitivity Syndromes (Aiss)mentioning

confidence: 99%

46,XY DSD with Female or Ambiguous External Genitalia at Birth due to Androgen Insensitivity Syndrome, 5α-Reductase-2 Deficiency, or 17β-Hydroxysteroid Dehydrogenase Deficiency: A Review of Quality of Life Outcomes

Wisniewski

Mazur

2009

International Journal of Pediatric Endocrinology

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Disorders of sex development refer to a collection of congenital conditions in which atypical development of chromosomal, gonadal, or anatomic sex occurs. Studies of 46,XY DSD have focused largely on gender identity, gender role, and sexual orientation. Few studies have focused on other domains, such as physical and mental health, that may contribute to a person's quality of life. The current review focuses on information published since 1955 pertaining to psychological well-being, cognition, general health, fertility, and sexual function in people affected by androgen insensitivity syndromes, 5-α reductase-2 deficiency, or 17β-hydroxysteroid dehydrogenase-3 deficiency—reared male or female. The complete form of androgen insensitivity syndrome has been the focus of the largest number of investigations in domains other than gender. Despite this, all of the conditions included in the current review are under-studied. Realms identified for further study include psychological well-being, cognitive abilities, general health, fertility, and sexual function. Such investigations would not only improve the quality of life for those affected by DSD but may also provide information for improving physical and mental health in the general population.

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The role of a clinical score in the assessment of ambiguous genitalia

Abstract: The masculinization score provides a standardized format to summarize clinical features in newborn infants with ambiguous genitalia. Gender assignment does not solely depend on the appearance of the external genitalia and the nature of internal sexual organs.

Cited by 236 publications

References 11 publications

Changes Over Time in Sex Assignment for Disorders of Sex Development

Changes Over Time in Sex Assignment for Disorders of Sex Development

45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study

46,XY DSD with Female or Ambiguous External Genitalia at Birth due to Androgen Insensitivity Syndrome, 5α-Reductase-2 Deficiency, or 17β-Hydroxysteroid Dehydrogenase Deficiency: A Review of Quality of Life Outcomes

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