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1.
Arch Sex Behav ; 47(8): 2491-2496, 2018 11.
Artículo en Inglés | MEDLINE | ID: mdl-30291599

RESUMEN

In individuals with congenital adrenal hyperplasia (CAH) and 46,XX karyotype, androgens produced by the adrenal glands during the intrauterine development promote virilization of the genitals, which may even result in the development of a well-formed penis. Some of these children with late diagnosis are registered as males after birth. After obtaining approval from the internal review board, we evaluated gender identity and sexual function in four 46,XX severely virilized patients with CAH, who were originally registered and raised as males, assisted in our Disorders of Sexual Development Clinic. The evaluation consisted of questionnaires to assess gender identity and sexual activity and interview with the multidisciplinary team that provides care for these patients. The patients underwent surgery to remove uterus, ovaries, and remaining vaginal structures, in addition to implantation of testicular prosthesis and correction of hypospadias, when necessary. All four patients have developed a clear male gender identity, and when evaluated for sexual activity, they have reported having erections, libido, orgasms, and sexual attraction to women only. Two of these 4 patients had satisfactory sexual intercourses when assessed using the International Index of Erectile Function questionnaire. The other two patients who never had sexual intercourse reported not having a partner for sexual activity; one is 18 years old, and the other is 14 years old. This study showed that this group of 46,XX severely virilized patients with CAH, registered and raised as males, adapted well to the assigned male gender, with satisfactory sexual function in patients who had sexual intercourse.


Asunto(s)
Hiperplasia Suprarrenal Congénita/complicaciones , Identidad de Género , Conducta Sexual/fisiología , Virilismo/psicología , Adolescente , Adulto , Andrógenos , Femenino , Genitales , Humanos , Masculino , Erección Peniana , Desarrollo Sexual , Encuestas y Cuestionarios , Virilismo/etiología
2.
Horm Behav ; 85: 5-11, 2016 09.
Artículo en Inglés | MEDLINE | ID: mdl-27373757

RESUMEN

This article has been retracted: please see Elsevier Policy on Article Withdrawal (http://www.elsevier.com/locate/withdrawalpolicy). This article has been retracted at the request of the authors due to technical errors that have called into question the reliability of the data used to inform the author's conclusions. All data on cognitive and behavioral outcomes in CAH and non­CAH cases, treated or not treated with DEX prenatally, were put into a single Excel database. The authors had in total four different patient groups for each age group (5­6 y, 7­17 y and 18-35 y). The database consisted of 237 cases in total and there were multiple columns for the different outcome measures. When the behavioral data for the sub-cohort described in this paper (first trimester treated non-CAH cases and healthy population controls, age 7­17 y) were copied to another sheet and compressed/modified in preparation for statistical analysis in SPSS, an error occurred. This technological issue caused rows to shift and the data from the different groups got mixed up. In particular, the non­CAH group versus the control group were "contaminated" with cases from the wrong patient group. The authors discovered this mistake when they started to analyse the data from the other sub­groups of patients, the CAH cases and the adult cohort, which was after their original results had already been published in Hormones and Behavior in this manuscript "Evaluation of behavioral problems after prenatal dexamethasone treatment in Swedish adolescents at risk of CAH". It then became apparent that the entire data set was unreliable and needed to be re­analysed which is what has motivated the retraction of this article. The authors have recently completed this re­analysis and the results have been published here: https://www.sciencedirect.com/science/article/pii/S0018506X17300752


Asunto(s)
Conducta del Adolescente/efectos de los fármacos , Hiperplasia Suprarrenal Congénita/prevención & control , Dexametasona/uso terapéutico , Glucocorticoides/uso terapéutico , Efectos Tardíos de la Exposición Prenatal/psicología , Virilismo/prevención & control , Adolescente , Hiperplasia Suprarrenal Congénita/epidemiología , Síntomas Afectivos/inducido químicamente , Síntomas Afectivos/epidemiología , Ansiedad/inducido químicamente , Ansiedad/epidemiología , Estudios de Casos y Controles , Niño , Femenino , Humanos , Masculino , Embarazo , Efectos Tardíos de la Exposición Prenatal/inducido químicamente , Efectos Tardíos de la Exposición Prenatal/epidemiología , Problema de Conducta , Factores de Riesgo , Encuestas y Cuestionarios , Suecia/epidemiología , Temperamento/efectos de los fármacos , Virilismo/psicología
3.
Horm Behav ; 73: 104-15, 2015 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-26163151

RESUMEN

Exposure to testosterone during a critical period of prenatal development disrupts the normal display of sexual behaviors in adult ovariectomized (OVX) rats treated with estradiol benzoate (EB) followed by progesterone (P). The organizational hypothesis posits that prenatally androgenized females (PNAFs) are desensitized to EB. We tested this hypothesis by first treating PNAFs with varying doses of EB (2.5, 5, 10, 20µg) followed by P (500µg), and second by subjecting females to an established EB behavioral sensitization paradigm where females are first given sexual experience with EB (10µg) and P prior to repeated sexual behavior testing with EB alone. Long-Evans females were androgenized in utero by a s.c. injection of 500µg testosterone propionate or the oil control to pregnant dams on gestational day 18. Female offspring were OVX on postnatal day 80 and tested one week later in the unilevel 4-hole pacing chamber. Genital tissue was defeminized in PNAFs, and the lordosis quotient (LQ) and partial (i.e., hops/darts) and full solicitations were significantly lower, while defensive behaviors were higher, in PNAF females, relative to non-PNAF females regardless of the acute EB priming dose. However, repeated testing with EB alone (10µg), or EB and P eliminated the differences between groups on LQ and hops/darts, indicating that the behavioral deficit can be overcome by sexual experience. These results suggest that PNAFs are not desensitized to EB, and despite disruptions in sexual differentiation of anatomical structures, the deficiency in sexual behavior in response to acute EB and P can be experientially overcome. PNAFs appear, however, to have a chronic deficit in the expression of full solicitations.


Asunto(s)
Andrógenos/efectos adversos , Efectos Tardíos de la Exposición Prenatal/fisiopatología , Conducta Sexual Animal/efectos de los fármacos , Virilismo/inducido químicamente , Andrógenos/administración & dosificación , Animales , Estradiol/administración & dosificación , Estradiol/efectos adversos , Estradiol/análogos & derivados , Femenino , Humanos , Ovariectomía , Postura , Embarazo , Efectos Tardíos de la Exposición Prenatal/inducido químicamente , Ratas , Ratas Long-Evans , Conducta Sexual Animal/fisiología , Maduración Sexual/efectos de los fármacos , Maduración Sexual/fisiología , Virilismo/fisiopatología , Virilismo/psicología
4.
Eur J Pediatr ; 168(7): 847-9, 2009 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-18923840

RESUMEN

Congenital adrenal hyperplasia (CAH) is an inherited metabolic disease caused by the deficiency of one of the enzymes necessary for cortisol synthesis. With carefully supervised medical treatment, CAH patients have the capacity for normal puberty and fertility. We report on a 12.4-year-old female who, because of the early interruption of treatment, developed progressive virilization with reduced final height and altered psycho-social orientation to male. One of the reasons for interrupting replacement therapy in our case was the difficult social and economic status of the family, who lived for many years without basic medical care.


Asunto(s)
Hiperplasia Suprarrenal Congénita/tratamiento farmacológico , Glucocorticoides/administración & dosificación , Mineralocorticoides/administración & dosificación , Esteroide 21-Hidroxilasa/genética , Virilismo/etiología , Privación de Tratamiento , Hiperplasia Suprarrenal Congénita/genética , Hiperplasia Suprarrenal Congénita/fisiopatología , Niño , Esquema de Medicación , Femenino , Heterocigoto , Humanos , Mutación , Fenotipo , Maduración Sexual/efectos de los fármacos , Esteroide 21-Hidroxilasa/metabolismo , Virilismo/fisiopatología , Virilismo/psicología
5.
Sex Med Rev ; 7(1): 141-155, 2019 01.
Artículo en Inglés | MEDLINE | ID: mdl-30122339

RESUMEN

INTRODUCTION: This article is the third in a 3-part series focused on the comprehensive treatment of gender dysphoria. Multidisciplinary gender dysphoria care may involve a combination of counseling, social gender transition, hormone therapy, and gender confirmation surgery (GCS) to maximize physical characteristics congruent with a patient's gender identity. Nonoperative management of gender dysphoria was covered in part 1. The focus of part 2 was feminizing GCS. In part 3, surgical considerations for masculinizing GCS are summarized, including a review of different phalloplasty techniques. This installment also includes information about adjunctive procedures, therapies, and products used by transgender men and women to express their gender identity. AIM: To provide an overview of both genital and nongenital masculinizing gender confirmation procedures. To review phalloplasty techniques, preoperative considerations, complications, and outcomes. To summarize ancillary services and procedures available to transgender patients to facilitate their gender presentation. METHODS: A review of relevant literature through May 2017 was performed via PubMed. MAIN OUTCOME MEASURES: To summarize ancillary products and services used by transgender patients and to review surgical considerations for masculinizing genitoplasty. RESULTS: A variety of nonsurgical ancillary services exist for transgender patients to aid their transition. A variety of phalloplasty procedures have been developed for transgender men who seek genital GCS. Most surgeons prefer radial forearm phalloplasty, including the authors whose surgical technique is described. Each phalloplasty approach is associated with its own benefits, drawbacks, and complications. CONCLUSION: A variety of ancillary services and procedures that help transgender men and women communicate their gender identity in society is available and is an important adjunct to medical or surgical treatment of gender dysphoria. Pre-operative, intra-operative, and post-operative considerations of masculinizing genital gender confirmation procedures were reviewed. Hadj-Moussa M, Agarwal S, Ohl DA, et al. Masculinizing Genital Gender Confirmation Surgery. Sex Med Rev 2019;7:141-155.


Asunto(s)
Disforia de Género/cirugía , Genitales Femeninos/cirugía , Cirugía de Reasignación de Sexo , Personas Transgénero , Virilismo , Consejo , Femenino , Disforia de Género/psicología , Identidad de Género , Humanos , Masculino , Cirugía de Reasignación de Sexo/métodos , Virilismo/psicología
6.
J Clin Endocrinol Metab ; 104(4): 1160-1170, 2019 04 01.
Artículo en Inglés | MEDLINE | ID: mdl-30388241

RESUMEN

CONTEXT: In 46,XY disorders of sexual development (DSD) patients, several factors may affect psychosexual development, leading to gender identity discrepancy and gender change later in life. Prenatal sexual steroid exposure and external genital virilization are considered to influence human psychosexual development, but their roles not completely understood yet. DESIGN: A total of 144 individuals (18 to 60 years of age) with a clinical/molecular diagnosis of 46,XY DSD from a single tertiary center were enrolled. Psychosexual outcomes (gender role, gender identity, and sexual orientation) were assessed using questionnaires and psychological test. The Sinnecker score was used for genital virilization measurement. Prenatal androgen exposure was estimated according to 46,XY DSD etiology. RESULTS: We found a positive association between prenatal androgen exposure and male psychosexual outcomes. Alternatively, prenatal estrogen exposure, age of gonadectomy, and the degree of external genital virilization did not influence any psychosexual outcome. There were 19% (n = 27) with gender change, which was associated with prenatal androgen exposure (P < 0.001) but not with the external genital virilization. The median age of gender change was 15 years, but most of the patients reported the desire for gender change earlier. CONCLUSIONS: Prenatal androgen exposure influenced psychosexual development in 46,XY DSD favoring male psychosexuality in all psychosexual outcomes, whereas the degree of external genital virilization did not influence these outcomes. The organizational effect of sexual steroids on psychosexuality at puberty appears to be weak in comparison with the prenatal effects. Prenatal androgen exposure also influenced female-to-male gender change frequency. All 46,XY DSD conditions with prenatal androgen exposure must be followed for gender issues in their management.


Asunto(s)
Andrógenos/administración & dosificación , Trastorno del Desarrollo Sexual 46,XY/psicología , Identidad de Género , Efectos Tardíos de la Exposición Prenatal/psicología , Procedimientos de Reasignación de Sexo/estadística & datos numéricos , Adolescente , Adulto , Trastorno del Desarrollo Sexual 46,XY/etiología , Trastorno del Desarrollo Sexual 46,XY/terapia , Femenino , Humanos , Masculino , Persona de Mediana Edad , Embarazo , Estudios Retrospectivos , Conducta Sexual/efectos de los fármacos , Conducta Sexual/psicología , Desarrollo Sexual/efectos de los fármacos , Virilismo/psicología , Adulto Joven
8.
Eur J Endocrinol ; 155(6): 877-85, 2006 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-17132758

RESUMEN

OBJECTIVE: The aim of this study was to assess the quality of life and psychosocial well-being in women with disorders of sex development (DSD). DESIGN: An open case-control study. METHODS: Social and psychiatric information was collected via a structured interview from 70 Danish women diagnosed with DSD, 70 controls matched on sex, age, and school education, and six women with isolated genital malformations. Quality of life and mental distress were assessed by 'Quality of Life-Assessment of Growth Hormone Deficiency in Adults' (QoL-AGHDA) and three symptom scales from the 'Hopkins Symptom Checklist' (SCL-90-R; i.e. somatization, depression, and anxiety) respectively. For both measures, higher scores reflected poorer outcomes. RESULTS: Present relationships and having children were less frequent in patients than in controls (P = 0.02 and P < 0.001 respectively). Previous suicidal thoughts (P = 0.002) and a higher frequency of psychological/psychiatric counseling for severe problems (P = 0.06) were more frequently reported in patients than in controls. The mean QoL-AGHDA score was significantly higher in patients than in controls (5.5 vs 2.9; P = 0.002), especially for congenital adrenal hyperplasia (CAH) females (P = 0.01) and virilized 46,XX and 46,XY females (P = 0.04). The total SCL score was higher in patients than in controls (mean 23.2 vs 20.0), reaching significance for anxiety (mean 6.3 vs 4.3, P = 0.03) with highest score in CAH (P = 0.01). CONCLUSION: An impaired quality of life and more affective distress were observed especially in CAH patients and virilized 46,XX and 46,XY females. This may be caused by trauma from distressing diagnostic procedures, the chronic illnesses per se, and psychosocial consequences of the disorders.


Asunto(s)
Hiperplasia Suprarrenal Congénita/psicología , Síndrome de Resistencia Androgénica/psicología , Disgenesia Gonadal 46 XX/psicología , Disgenesia Gonadal 46 XY/psicología , Calidad de Vida , Adulto , Ansiedad/diagnóstico , Estudios de Casos y Controles , Depresión/diagnóstico , Femenino , Hormona de Crecimiento Humana/deficiencia , Humanos , Masculino , Persona de Mediana Edad , Clase Social , Virilismo/psicología
9.
J Pediatr Endocrinol Metab ; 18(2): 125-32, 2005 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-15751601

RESUMEN

Six 46,XX patients with congenital adrenal hyperplasia (CAH) presented with genital ambiguity, five so severe that initial gender assignment was male. Once diagnosis was realized, parents were involved in evaluation and chose sex re-assignment as female. To date, these girls and their parents all indicate satisfaction with their decision for a female sex of rearing. The girls have a female gender identity with behavior characteristics known for females with CAH. Thus, while outcome is satisfactory, it is realized that for most, expression of sexual orientation and adult life adjustments have not yet occurred.


Asunto(s)
Hiperplasia Suprarrenal Congénita/complicaciones , Identidad de Género , Disgenesia Gonadal 46 XX/complicaciones , Identificación Psicológica , Desarrollo Psicosexual , Virilismo/psicología , Adolescente , Hiperplasia Suprarrenal Congénita/psicología , Hiperplasia Suprarrenal Congénita/cirugía , Niño , Conducta Infantil , Desarrollo Infantil , Cromosomas Humanos X , Trastornos del Desarrollo Sexual/etiología , Trastornos del Desarrollo Sexual/psicología , Trastornos del Desarrollo Sexual/cirugía , Femenino , Disgenesia Gonadal 46 XX/psicología , Disgenesia Gonadal 46 XX/cirugía , Humanos , Recién Nacido , Relaciones Madre-Hijo , Virilismo/etiología , Virilismo/cirugía
11.
Psicol. Estud. (Online) ; 25: e44147, 2020. tab
Artículo en Portugués | LILACS, Index Psi Revistas Técnico-Científicas | ID: biblio-1135771

RESUMEN

RESUMO. A epidemiologia brasileira do comportamento suicida, no que tange ao gênero, é análoga à maioria dos países no cenário internacional, de acordo com a pesquisa da Organização Mundial de Saúde, envolvendo 172 nações. No Brasil, o número de óbitos por suicídio é de três a quatro vezes maior entre os homens e, além disso, pesquisas revelam que a prevalência de tentativas de autoextermínio pode ser maior na população sexo-diversa masculina. A partir dos dados estatísticos que inferem questões de gênero e de sexualidade relacionadas ao sofrimento psíquico de homens, a presente pesquisa teve como escopo analisar qualitativamente, por meio das teorias das masculinidades, relatos biográficos de homens gays, bissexuais e heterossexuais que já manifestaram o comportamento suicida. O intuito foi dar enfoque nos contextos de sofrimento que levaram os sujeitos às ideações e tentativas de autoextermínio. Ao final, as categorias identificadas apontam para similaridades e distinções nas narrativas de cada grupo de orientação sexual e evidenciam a forma como a não correspondência à masculinidade hegemônica se expressa nas sexualidades estudadas.


RESUMEN La epidemiología brasileña del comportamiento suicida, con respecto al género, es análoga a la mayoría de los países en el escenario internacional, de acuerdo con la investigación de la Organización Mundial de la Salud, con 172 naciones. En Brasil, el número de muertes por suicidio es de tres a cuatro veces mayor entre los hombres y, además, investigaciones revelan que la prevalencia de intentos de suicídio puede ser mayor en la población sexodiversa masculina. Con base en los datos estadísticos que infieren las cuestiones de género y sexualidad relacionadas con el sufrimiento psicológico de los hombres, la presente investigación tuvo como objetivo analizar cualitativamente, a través de las teorías de la masculinidad, los relatos biográficos de hombres homosexuales, bisexuales y heterosexuales que ya manifestaron conductas suicidas. La intención fue centrarse en los contextos de sufrimiento que llevaron a los participantes a ideas e intentos de autodestrucción. Al final, las categorías identificadas señalan similitudes y distinciones en las narrativas de cada grupo de orientación sexual y muestran cómo la falta de correspondencia con la masculinidad hegemónica se expresa en las sexualidades estudiadas.


ABSTRACT. The Brazilian suicidal behavior epidemiology, in what concerns to gender, is analogous to most countries in the international scenario, according to the World Health Organization survey, with 172 nations. In Brazil, the number of suicide deaths is three to four times higher among men and, in addition, research shows that the prevalence of self-extermination attempts may be higher in the male sex-diverse population. Based on the statistical data that infer gender and sexuality issues related to the psychological suffering of men, the present research aimed to qualitatively analyze, through the theories of masculinities, the biographical reports of gay, bisexual and heterosexual men who have already manifested suicidal behavior. The intention was to focus on the contexts of suffering that led the participants to ideations and attempts at self-extermination. In the end, the categories identified point to similarities and distinctions in the narratives of each sexual orientation group and show how the non-correspondence to hegemonic masculinity is expressed in the studied sexualities.


Asunto(s)
Humanos , Masculino , Adulto , Suicidio/psicología , Masculinidad , Conducta Sexual/psicología , Estrés Psicológico/psicología , Virilismo/psicología , Bisexualidad/psicología , Homosexualidad/psicología , Factores Epidemiológicos , Sexualidad/psicología , Heterosexualidad/psicología , Muerte , Homofobia/psicología , Minorías Sexuales y de Género/psicología , Violencia de Género/psicología , Identidad de Género
12.
Neuropsychologia ; 32(7): 875-80, 1994 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-7936169

RESUMEN

Functional cerebral asymmetry was studied in 22 women, 17-34 years old, with prenatal virilization due to congenital adrenal hyperplasia (CAH) (21-hydroxylase deficiency) and 22 matched, healthy controls. The theory of an androgen influence on cerebral lateralization has been supported by the observation of sex differences in cognitive performance, anatomical cerebral differences between the sexes and atypical patterns of functional asymmetry in certain anomalous hormonal states. The result of the present study did however not show a significantly different pattern of functional asymmetry for women with CAH and prenatal exposure to high levels of androgens. No significant differences with the controls were found for the Finger Tapping Test (FTT), Edinburgh Handedness Inventory (EHI) or Dichotic Listening (Consonant-Vowel) Test (DL). The CAH group included four non-right-handers (18%) vs two (9%) in the control group. As sex differences generally are small, the present result, may have been influenced by the limited size of the sample.


Asunto(s)
Hiperplasia Suprarrenal Congénita/fisiopatología , Atención/fisiología , Pruebas de Audición Dicótica , Dominancia Cerebral/fisiología , Lateralidad Funcional/fisiología , Adolescente , Hiperplasia Suprarrenal Congénita/psicología , Adulto , Femenino , Humanos , Recuerdo Mental/fisiología , Pruebas Neuropsicológicas , Caracteres Sexuales , Virilismo/fisiopatología , Virilismo/psicología
13.
Am J Med Genet ; 34(3): 406-12, 1989 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-2574534

RESUMEN

We report on two genotypic females with complete masculinization of the external genitalia secondary to congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency. One patient had the salt-losing variant, and the other had the simple virilizing or nonsalt-losing variant. One was evaluated neonatally during an adrenal crisis and misidentified as male; the second was unrecognized. Both were being reared as males when the true genotype was recognized during evaluation for cryptorchidism. The female internal genitalia were subsequently removed and testicular implants placed. These cases demonstrate the need to exclude congenital virilizing adrenal hyperplasia in any phenotypic male infant with bilateral cryptorchidism. When this condition is diagnosed, early and genotypically appropriate sex assignment is important if reproductive function is to be preserved and subsequent emotional and social complications avoided.


Asunto(s)
Hiperplasia Suprarrenal Congénita , Hiperplasia Suprarrenal Congénita/patología , Criptorquidismo/diagnóstico , Esteroide Hidroxilasas/deficiencia , Virilismo/diagnóstico , Hiperplasia Suprarrenal Congénita/clasificación , Hiperplasia Suprarrenal Congénita/diagnóstico , Hiperplasia Suprarrenal Congénita/enzimología , Niño , Preescolar , Diagnóstico Diferencial , Errores Diagnósticos , Femenino , Identidad de Género , Humanos , Fenotipo , Pubertad Precoz/etiología , Sodio/deficiencia , Virilismo/etiología , Virilismo/psicología
14.
J Pediatr Surg ; 18(6): 887-93, 1983 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-6663420

RESUMEN

The psychological development of females with congenital adrenal hyperplasia (CAH) has been previously studied by Money, et al, who found that psychological development of sex identity was consistent with sex assignment despite virilizing adrenal hormones and abnormal external genitalia requiring surgical correction. In this study, using a variety of psychological tests, we assessed the sex-dimorphic behavior, body image, cognitive functioning, and sex-role identity of nine patients ranging in age from 13 to 21, all treated with glucocorticoids and surgical correction. Four of the nine showed moderate virilization despite treatment. Psychological measures included the Wechsler Intelligence Scale for Children-Revised (WISC-R), the Bem Sex-Role Inventory, the Draw-A-Person (DAP) and an interview with patient and family. Results indicate that patients fall within the normal expectable range for this developmental period in visual-spatial and verbal cognitive functioning, in sex-role identity, and in social interpersonal early behaviors. In two areas of functioning these patients demonstrated some variance from the norms, specifically in sexual identity and early activity levels. This suggests that sexual identity and physical activity are most prone to hormonal and psychological impact but that cognition and sex-role identity are not affected. Future studies of this sample will look at personality dimensions such as ego functioning, defense and affect to consider the impact of body image concerns and conflicts.


Asunto(s)
Hiperplasia Suprarrenal Congénita/psicología , Adolescente , Corticoesteroides/uso terapéutico , Hiperplasia Suprarrenal Congénita/terapia , Adulto , Imagen Corporal , Clítoris/cirugía , Cognición , Terapia Combinada , Femenino , Identidad de Género , Humanos , Pruebas de Inteligencia , Entrevista Psicológica , Pruebas Psicológicas , Virilismo/psicología , Virilismo/terapia
15.
Urologe A ; 53(2): 206-12, 2014 Feb.
Artículo en Alemán | MEDLINE | ID: mdl-24496874

RESUMEN

BACKGROUND: With a mean global incidence of 1:14500, congenital adrenal hyperplasia (CAH) is the most common disorder of sexual differentiation (DSD). In case of female karyotype, the prenatal surplus of androgens causes virilization of the external genitalia. This includes clitoral hypertrophy and an increasing higher confluence of the urethra and normal developed proximal vagina, creating the urogenital sinus. Internal genitalia are female. METHOD: Until recently feminizing surgery was performed within the first 18 months of life, at least concerning clitoroplasty. Though the cosmetic result of this kind of surgery is quite good, functional shortcomings like clitoral hyposensibility were often reported. RESULTS: The latest discussion about treatment of intersex patients resulted in recommendations to prevent early surgery and observe the development of the child, until the child can decide for itself, if and in what direction it wants to undergo surgery. Though CAH patients are seen as a special group within intersex disorders, these recommendations should also be considered for them. The appropriateness of this change in treatment strategy is supported by publications concerning the long-term follow-up of patients, who finally chose a gender that was different from what physicians and parents had expected.


Asunto(s)
Hiperplasia Suprarrenal Congénita/psicología , Hiperplasia Suprarrenal Congénita/cirugía , Procedimientos Quirúrgicos Ginecológicos/métodos , Procedimientos de Cirugía Plástica/métodos , Virilismo/psicología , Virilismo/cirugía , Adolescente , Hiperplasia Suprarrenal Congénita/diagnóstico , Niño , Preescolar , Femenino , Humanos , Virilismo/diagnóstico , Salud de la Mujer , Adulto Joven
17.
Horm Res Paediatr ; 74(4): 229-40, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-20689261

RESUMEN

17-ß-Hydroxysteroid dehydrogenase type 3 (17ßHSD-3) deficiency is a rare, but frequently misdiagnosed autosomal recessive cause of 46,XY disorder of sex development (DSD). 17ßHSD-3 enzyme is present almost exclusively in the testes and converts Δ4-androstenedione (Δ4) to testosterone (T). The diagnosis can be easily missed in early childhood as the clinical presentation may be subtle. Any young girl with an inguinal hernia, mild clitoromegaly, single urethral opening or urogenital sinus should raise suspicion. If not diagnosed early, patients present with severe virilization and primary amenorrhea in adolescence and may undergo a change from a female to male gender role. A low T/Δ4 ratio on baseline or hCG (human chorionic gonadotropin)-stimulated testing is suggestive of 17ßHSD-3 deficiency. The diagnosis can be confirmed with molecular genetic studies. This review summarizes the clinical presentations, reported mutations, diagnosis, treatment and clinical course of this disorder. The Arg80 site in exon 3 is the most common location of repeated mutations and can be considered a hot spot in certain Arab populations.


Asunto(s)
17-Hidroxiesteroide Deshidrogenasas/deficiencia , Trastorno del Desarrollo Sexual 46,XY/genética , Trastorno del Desarrollo Sexual 46,XY/fisiopatología , 17-Hidroxiesteroide Deshidrogenasas/genética , Trastorno del Desarrollo Sexual 46,XY/diagnóstico , Trastorno del Desarrollo Sexual 46,XY/epidemiología , Femenino , Efecto Fundador , Genes Recesivos , Humanos , Masculino , Procedimientos de Reasignación de Sexo , Virilismo/tratamiento farmacológico , Virilismo/genética , Virilismo/psicología , Virilismo/cirugía
18.
J Clin Endocrinol Metab ; 95(8): 3633-40, 2010 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-20466782

RESUMEN

CONTEXT: Females with congenital adrenal hyperplasia (CAH) due to a CYP21A2 deficiency are exposed to androgens during fetal development, resulting in virilization of the external genitalia. Little is known about how these women feel that the disease has affected their lives regarding surgery and psychosexual adaptation. OBJECTIVE: Our objective was to investigate the correlation between the surgical results, the self-perceived severity of the disease, and satisfaction with sexual life and relate the results to the CYP21A2 genotype. DESIGN AND PARTICIPANTS: Sixty-two Swedish women with CAH and age-matched controls completed a 120-item questionnaire, and a composite score for sexual function was constructed. The surgical outcome, including genital appearance and clitoral sensitivity, was evaluated by clinical examination. The patients were divided into four CYP21A2 genotype groups. RESULTS: The sexual function score, but not for genital appearance, was higher in the patients satisfied with their sexual life. This was also true of the patients who were satisfied with the surgical result. There were discrepancies between the patients' perception of the impact of the condition on their sexual life and what health professionals would assume from clinical examination. The patients in the null genotype group scored lower on sexual function and satisfaction with their sexual life and had more surgical complications, also compared with the slightly less severe I2-splice genotype group. CONCLUSION: Our data show that the null genotype group was considerably more affected by the condition than the other groups and should be regarded as a subgroup, both psychologically and from a surgical perspective. Genotyping adds clinically valuable information.


Asunto(s)
Hiperplasia Suprarrenal Congénita/psicología , Satisfacción del Paciente , Calidad de Vida/psicología , Conducta Sexual/psicología , Esteroide 21-Hidroxilasa/genética , Adolescente , Hiperplasia Suprarrenal Congénita/genética , Hiperplasia Suprarrenal Congénita/cirugía , Adulto , Imagen Corporal , Clítoris/cirugía , Femenino , Genotipo , Encuestas Epidemiológicas , Humanos , Persona de Mediana Edad , Mutación , Índice de Severidad de la Enfermedad , Estadísticas no Paramétricas , Encuestas y Cuestionarios , Suecia , Resultado del Tratamiento , Virilismo/genética , Virilismo/psicología , Virilismo/cirugía
19.
An. psicol ; 29(1): 264-271, ene.-abr. 2013. tab, graf
Artículo en Inglés | IBECS (España) | ID: ibc-109342

RESUMEN

La ratio D2:D4 es el cociente entre la longitud de los dedos índice y anular e indicador indirecto de androgenización. A mayor testosterona prenatal, incrementa la probabilidad de desarrollar una menor ratio D2:D4. Se ha sugerido que personas con trastornos del espectro autista (TEA) y sus progenitores podrían tener cerebros altamente androgenizados, por lo que se ha utilizado como marcador de tal idiosincrasia. El objetivo principal es analizar si los progenitores de personas con TEA difieren de la población general en diversos parámetros de androgenización, principalmente la ratio D2:D4. La muestra estuvo compuesta por 43 progenitores de personas con TEA y 42 controles, de los que se midieron la ratio D2:D4, cuestionarios rasgo y niveles de testosterona y cortisol en saliva. Aunque no se encontraron diferencias por grupo en la ratio D2:D4, la ratio de la mano izquierda de progenitores de personas con TEA mostró mayor capacidad predictiva para explicar los cocientes de empatía y autismo, conductas cooperativas y niveles de cortisol. Además, en los progenitores varones predijo la gravedad de los hijos. Los resultados obtenidos indican que la ratio D2:D4 podría ser empleada, junto a otros parámetros, como indicador de la probabilidad de desarrollar rasgos autistas en los descendientes (AU)


The 2D:4D ratio is the quotient between the index and ring finger lengths and is a non-direct indicator of androgenisation. If prenatal testosterone levels in the amniotic fluid are high then the probability increases of developing lower ratio values. It has been suggested that people with autism spectrum disorders (ASD) and their parents may have highly androgenised brains, and for this reason the 2D:4D ratio is used as a marker of such idiosyncrasies. This study aims to analyse if parents of people with ASD differ from the general population in several parameters of androgenisation related to the 2D:4D ratio. The sample was composed of 43 parents of offspring with ASD and 42 controls who had the 2D:4D ratio measured, answered several trait questionnaires, and had their testosterone and cortisol levels measured. Although there were no differences between groups in the 2D:4D ratio, the left hand of the ASD parents showed greater predictive ability to explain empathy and autism quotients, cooperative behaviour, and cortisol levels. In addition, the severity of the symptoms of their offspring was predicted only with male parents. The results indicate that the 2D:4D ratio could be used together with other parameters as an indicator of the likelihood of developing autistic traits in offspring (AU)


Asunto(s)
Humanos , Masculino , Femenino , Niño , Virilismo/psicología , Trastorno Autístico/genética , Trastorno Autístico/psicología , Testosterona/antagonistas & inhibidores , Testosterona/deficiencia , Testosterona/uso terapéutico , Análisis de Varianza
20.
Arch Sex Behav ; 37(1): 85-99, 2008 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-18157628

RESUMEN

46,XX individuals with classical congenital adrenal hyperplasia (CAH) due to deficiency of the enzyme, 21-hydroxylase, show variable degrees of masculinization of body and behavior due to excess adrenal androgen production. Increased bisexuality and homosexuality have also been reported. This article provides a review of existing reports of the latter and presents a new study aimed at replicating the previous findings with detailed assessments of sexual orientation on relatively large samples, and at extending the investigation to the mildest form, non-classical (NC) CAH. Also, this is the first study to relate sexual orientation to the specific molecular genotypes of CAH. In the present study, 40 salt-wasters (SW), 21 SV (simple-virilizing), 82 NC, and 24 non-CAH control women (sisters and female cousins of CAH women) were blindly administered the Sexual Behavior Assessment Schedule (SEBAS-A, 1983 ed.; H. F. L. Meyer-Bahlburg & A. A. Ehrhardt, Privately printed). Most women were heterosexual, but the rates of bisexual and homosexual orientation were increased above controls not only in women with classical CAH, but also in NC women, and correlated with the degree of prenatal androgenization. Classifying women by molecular genotypes did not further increase the correlation. Diverse aspects of sexual orientation were highly intercorrelated, and principal components analysis yielded one general factor. Bisexual/homosexual orientation was (modestly) correlated with global measures of masculinization of non-sexual behavior and predicted independently by the degree of both prenatal androgenization and masculinization of childhood behavior. We conclude that the findings support a sexual-differentiation perspective involving prenatal androgens on the development of sexual orientation.


Asunto(s)
Hiperplasia Suprarrenal Congénita/fisiopatología , Andrógenos/fisiología , Efectos Tardíos de la Exposición Prenatal/fisiopatología , Conducta Sexual/fisiología , Adolescente , Hiperplasia Suprarrenal Congénita/genética , Hiperplasia Suprarrenal Congénita/psicología , Adulto , Bisexualidad/fisiología , Bisexualidad/psicología , Femenino , Genotipo , Homosexualidad Femenina/genética , Homosexualidad Femenina/psicología , Humanos , Persona de Mediana Edad , Fenotipo , Proyectos Piloto , Embarazo , Efectos Tardíos de la Exposición Prenatal/genética , Efectos Tardíos de la Exposición Prenatal/psicología , Desarrollo Psicosexual/fisiología , Caracteres Sexuales , Conducta Sexual/psicología , Esteroide 21-Hidroxilasa/genética , Virilismo/fisiopatología , Virilismo/psicología
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