RESUMEN
La disgenesia gonadal completa 46 XY (46, XY CGD) es un trastorno del desarrollo sexual. Se caracteriza por el cariotipo 46 XY, genitales externos femeninos normales, presencia de estructuras müllerianas y gónadas sin desarrollar. Es un síndrome infrecuente, cuyos pacientes tienen un fenotipo femenino normal y una talla normal o alta, por lo que se diagnostican por retraso puberal o amenorrea primaria. La mayoría de los pacientes con 46, XY CGD muestran un gen SRY normal. Asociado a la presencia de un cromosoma Y, existe un riesgo marcado de tumores gonadales, especialmente después de la pubertad. El gonadoblastoma es el tumor más frecuente y tiene un alto riesgo de malignización hacia disgerminoma. Presentamos el caso de una niña que consulta a los 8 años de edad por talla baja. A la exploración la paciente presenta un fenotipo femenino normal, genitales externos femeninos, con estadio de Tanner I, peso de 21,6 kg (DE -1,43) y talla de 115,4 cm (DE -3,1). El laboratorio reveló test de estimulación con gonadotropina coriónica humana sin respuesta de testosterona y hormona antimülleriana <1 pmol/L. El cariotipo en sangre periférica es informado como 46 XY, con presencia del gen SRY. La resonancia magnética abdominal mostró la presencia de vagina, útero hipoplásico y ausencia de gónadas. Se realiza gonadectomía bilateral laparoscópica. El análisis anatomopatológico confirmó la presencia de gonadoblastoma puro bilateral de ovarios. Los hallazgos permiten confirmar el diagnóstico de 46, XY CGD. La novedad del caso radica en su baja frecuencia de aparición, la edad del diagnóstico y la presentación con una talla baja
Complete gonadal dysgenesis 46 XY (46, XY CGD) is a disorder of sexual development. It is characterized by 46 XY karyotype, normal female external genitalia, presence of Müllerian structures, and undeveloped gonads. It is a rare syndrome, in which patients have normal female phenotype, with normal or increased height, diagnosed by delayed pubertal or primary amenorrhea. The majority of patients with 46, XY CGD show a normal SRY gene. In gonadal dysgenesis associated with the presence of a Y chromosome there is a marked risk of gonadal tumors, especially after puberty. Gonadoblastoma is the most frequent tumor. It has a high risk of malignancy towards dysgerminoma. We present the case of a girl who consulted at age 8 years for short stature. On physical exam, the patient presented normal female phenotype, female external genitalia, with Tanner stage 1. Weight: 21,6 kg (sds -1,43); height: 115,4 cm (sds -3,1). Laboratory tests revealed stimulation test with HCG, did not show testosterone response, antimüllerian hormone <1 pmol/L. Karyotype in peripheral blood showed 46 XY. Genetic analysis of the SRY gene was extended and no deletions were detected. Abdominal MRI showed a normal vagina, hypoplastic uterus and confirmed the absence of gonads. Exploratory laparoscopy was performed. The anatomopathological analysis confirmed the presence of pure bilateral ovarian gonadoblastoma. Thus, the diagnosis of 46, XY CGD was confirmed. The novelty of this case lies in the rarity of the pathology as well as the clinical picture. Diagnosis before puberty as well as short stature are rare in the context of 46, XY CGD
Asunto(s)
Humanos , Femenino , Niño , Disgenesia Gonadal 46 XY/diagnóstico , Disgenesia Gonadal 46 XY/terapia , Disgenesia Gonadal 46 XY/cirugía , Disgenesia Gonadal 46 XY/genética , Castración , Hormona de Crecimiento Humana/uso terapéutico , Progestinas/uso terapéutico , Estrógenos/uso terapéutico , Trastornos de los Cromosomas Sexuales del Desarrollo Sexual/genéticaRESUMEN
The term intersex used in the past has been replaced by "Disorders of Sex Differentiation". In this condition the development of chromosomal, gonadal or anatomical sex is atypical. This problem creates anxiety to the parents and a challenge for attending doctor. The problems faced by the individual are sexual, reproductive, sex of raring, placement in the society and psychological impact. The optimal management of the patient should be individualized by multidisciplinary team. Three cases of Disorders of Sex Differentiation (DSD) are presented with different causes and presentations. Two cases carrying XY karyotype pattern, while one case was of XX. The diagnosis of swyers syndrome, 5 alpha reductase deficiency and congenital adrenal hyperplasia was made on the basis of genital tract development, hormonal analysis and karyotyping. The strange feature which was common in all these cases was the wish of patients as well as family members to adopt sex of raring as male.
Asunto(s)
3-Oxo-5-alfa-Esteroide 4-Deshidrogenasa/deficiencia , Hiperplasia Suprarrenal Congénita/diagnóstico , Trastorno del Desarrollo Sexual 46,XY/diagnóstico , Disgenesia Gonadal 46 XY/diagnóstico , Hipospadias/diagnóstico , Errores Congénitos del Metabolismo Esteroideo/diagnóstico , Adolescente , Hiperplasia Suprarrenal Congénita/terapia , Niño , Trastorno del Desarrollo Sexual 46,XY/terapia , Femenino , Disgenesia Gonadal 46 XY/terapia , Humanos , Hipospadias/terapia , Masculino , Errores Congénitos del Metabolismo Esteroideo/terapia , Adulto JovenRESUMEN
BACKGROUND: Chromosome 8p deletions are associated with a variety of conditions, including cardiac abnormalities, mental, behavioral problems with variable morphotype and genitourinary anomalies in boys. METHODS: We describe the follow-up over almost 15 years of a boy who initially presented with perineal hypospadias with a micropenis and cryptorchidism with 46,XY DSD. RESULTS: Imaging, pathology, and hormonal exploration suggested gonadal dysgenesis. Further genetic studies were deemed necessary during follow-up. The child's further development recommended further genetic analyses. High-resolution analysis showed an interstitial deletion on the short arm of a chromosome 8: 46,XY,del(8)(p23.1p23.1). We reviewed the literature and found 102 cases including 54 boys: 62.7% had mental problems, 50.9% a dysmorphic disorder, 55.9% cardiac anomalies, and 46.3% of the boys had genitourinary anomalies. Our patient's genital abnormalities can be explained by the haploinsufficiency of the genes, such as GATA4 (OMIM 600576) that are included in the deleted area. CONCLUSION: This case of severe 46,XY DSD raises the question of the role played by 8p23 microdeletion in gonadal dysgenesis. Clinicians are encouraged to look for this anomaly on chromosome 8 in cases of unexplained gonadal dysgenesis even when few signs suggestive of this anomaly are present.
Asunto(s)
Disgenesia Gonadal 46 XY/genética , Adolescente , Deleción Cromosómica , Cromosomas Humanos Par 8/genética , Disgenesia Gonadal 46 XY/patología , Disgenesia Gonadal 46 XY/terapia , Humanos , Cariotipo , MasculinoRESUMEN
PURPOSE OF REVIEW: Testicular remnants or nubbins are commonly found in the evaluation and treatment of cryptorchidism. While much debate focuses on the management of the nubbin itself, there is also great uncertainty and variation in the management of the contralateral descended testis. Herein, we review the relevant literature informing the decision to perform a contralateral orchiopexy. RECENT FINDINGS: Although there is very little recent literature directly addressing the question, some studies have better characterized differences in practice, the risk of intravaginal torsion in the contralateral testis and potential consequences in the selection of technique. The etiology of a vanishing testis remains obscure, but appears more likely to be the result of a prenatal extravaginal torsion. While indeterminate, the risk of contralateral torsion of a descended testis appears to concentrate around the neonatal period with no substantially increased risk in later years. Contralateral orchiopexy, although a low-risk procedure, likely benefits very few and may carry an as yet poorly described risk to the contralateral testicle depending on the technique of fixation.
Asunto(s)
Enfermedades Testiculares/terapia , Testículo , Disgenesia Gonadal 46 XY/terapia , Humanos , Masculino , Orquidopexia , Factores de Riesgo , Enfermedades Testiculares/patología , Enfermedades Testiculares/fisiopatología , Testículo/anomalías , Testículo/patología , Testículo/fisiopatologíaRESUMEN
45,X/46,XY gonadal dysgenesis is a disorder of sexual differentiation with a wide clinical presentation, ranging from Turner-like females to individuals with genital ambiguity to azoospermic but otherwise normal-appearing males. Hence, patients can be assigned female or male sex. Female patients are managed according to the Turner Syndrome Guidelines, whereas males are managed on a case-by-case basis. Male patients present with multiple medical challenges: undervirilization, hypogonadism, gonadoblastoma risk, and short stature. Many require surgeries and hormonal treatments that are time-sensitive and irreversible. Nonetheless, these therapeutic decisions are made without evidence-based guidelines. This review describes the medical concerns and possible interventions in male patients with 45,X/46,XY dysgenesis for each stage of development. Interventions should be addressed within a patient-centered framework by a multidisciplinary team and after thorough discussion with the family. We use the GRADE system to appraise the existing evidence and provide recommendations based on the available evidence.
Asunto(s)
Práctica Clínica Basada en la Evidencia , Disgenesia Gonadal 46 XY/terapia , Procedimientos de Reasignación de Sexo/estadística & datos numéricos , Adolescente , Adulto , Niño , Práctica Clínica Basada en la Evidencia/normas , Femenino , Disgenesia Gonadal 46 XY/diagnóstico , Humanos , Recién Nacido , Masculino , Guías de Práctica Clínica como Asunto , Embarazo , Diagnóstico Prenatal , Procedimientos de Reasignación de Sexo/normasAsunto(s)
Neoplasias Endometriales , Etinilestradiol , Disgenesia Gonadal 46 XY , Terapia de Reemplazo de Hormonas , Levonorgestrel , Ovariectomía/métodos , Adulto , Combinación de Medicamentos , Neoplasias Endometriales/diagnóstico , Neoplasias Endometriales/etiología , Neoplasias Endometriales/patología , Etinilestradiol/administración & dosificación , Etinilestradiol/efectos adversos , Femenino , Disgenesia Gonadal 46 XY/complicaciones , Disgenesia Gonadal 46 XY/diagnóstico , Disgenesia Gonadal 46 XY/terapia , Terapia de Reemplazo de Hormonas/efectos adversos , Terapia de Reemplazo de Hormonas/métodos , Hormonas/administración & dosificación , Hormonas/efectos adversos , Humanos , Hallazgos Incidentales , Levonorgestrel/administración & dosificación , Levonorgestrel/efectos adversos , Resultado del TratamientoRESUMEN
BACKGROUND: Steroidogenic factor-1 (SF-1) gene (NR5A1) mutations cause disorders of sexual development due to gonadal dysgenesis, particularly in 46,XY individuals. In cases exhibiting this mutation, the phenotype is heterogeneous, and it may vary within a spectrum ranging from complete female appearance to an infertile male. Virilization observed in some cases in the pubertal age group may lead to diagnostic difficulties. CASE: The present case report describes the clinical, histopathologic, and genetic characteristics of a 46,XY case, who was born with a female phenotype and raised as a girl, presented with findings of virilization in the pubertal period. She had no germ cells and very few Leydig cells with atrophic testis on biopsy and in whom a novel heterozygous mutation in the SF-1 gene (a heterozygous 7-bp deletion mutation in exon 7 [c.1308-1314del7bp] causing frameshift) was identified. SUMMARY AND CONCLUSION: Although the gonads are very dysgentic in patient with SF-1 mutations, sufficient androgen synthesis can cause severe virilization during puberty.
Asunto(s)
Disgenesia Gonadal 46 XY/genética , Heterocigoto , Factor Esteroidogénico 1/genética , Virilismo/genética , Niño , Femenino , Identidad de Género , Pruebas Genéticas , Disgenesia Gonadal 46 XY/complicaciones , Disgenesia Gonadal 46 XY/patología , Disgenesia Gonadal 46 XY/terapia , Humanos , Mutación , Virilismo/complicaciones , Virilismo/patología , Virilismo/terapiaRESUMEN
BACKGROUND: Swyer syndrome and complete androgen insensitivity syndrome are disorders of sex development in which patients present a female phenotype and 46,XY karyotype. CASE: The authors present a case report of an 18-year-old patient with primary amenorrhea and delayed puberty. The karyotype was 46,XY. No mutations of sex-determining region Y gene and androgen receptor genes were identified, and imaging methods failed to show müllerian structures. A diagnosis of complete androgen insensitivity syndrome was presumed, but after hormonal replacement therapy was started a "hidden" uterus developed, leading to the definite diagnosis of Swyer syndrome. SUMMARY AND CONCLUSION: The diagnosis of Swyer syndrome can be challenging, because visualization of müllerian structures is sometimes difficult and analysis of genetic mutations is not helpful in the majority of cases.
Asunto(s)
Síndrome de Resistencia Androgénica/diagnóstico , Disgenesia Gonadal 46 XY/diagnóstico , Adolescente , Amenorrea/etiología , Diagnóstico Diferencial , Femenino , Disgenesia Gonadal 46 XY/complicaciones , Disgenesia Gonadal 46 XY/terapia , Terapia de Reemplazo de Hormonas , Humanos , Masculino , Ovario/anomalías , Pubertad Tardía/etiología , Útero/anomalíasRESUMEN
Vanishing testes syndrome is often referred to as testicular regression syndrome (TRS) in the recent medical literature. The most characteristic histological findings are presence of a fibrovascular nodule with associated hemosiderin-laden macrophages and dystrophic calcification. Residual testicular tubules are found in less than 10% of cases, with prevalence being unrelated to age at surgery. Presence of seminiferous tubules and viable germ cells in testicular remnant tissue has been reported in some series. TRS theoretically carries a potential for malignant degeneration in the long term and therefore removal of any remnant is a common practice to eliminate this risk. However, no case series has reported germinal dysplasia or intratubular germ cell neoplasia in any of the specimens taken from these patients.
Asunto(s)
Disgenesia Gonadal 46 XY/fisiopatología , Disgenesia Gonadal 46 XY/diagnóstico , Disgenesia Gonadal 46 XY/epidemiología , Disgenesia Gonadal 46 XY/terapia , Humanos , Masculino , Prevalencia , Testículo/anomalías , Testículo/fisiopatologíaRESUMEN
BACKGROUND: Disorders of sex development (DSD) belong to uncommon pathologies; in addition, there are especially rare forms, such are ovotesticular disorders (OT), Turner syndrome and early malignisation of intraabdominal located gonads in the cases of androgen insensitivity syndrome. OBJECTIVE: In this article we present four rare cases of DSD in female phenotype adolescents: two cases of ovotesticular DSD with 46,XX and 46,XY karyotypes; one familial case of androgen insensitivity syndrome (AIS) with early malignancy (19-year-old) of intra-abdominally-located testicle in older siblings, and a case of spontaneous menstruation in a patient with Turner syndrome and mosaic karyotype 45,X/47,XXX. Rare cases of DSD are connected with diagnostic and management difficulties and so description of each such case and collection of data in this field is very important from a scientific, as well as a practical, point of view. Determination of prognosis and adequate management of each individual patient are also essential. Study of this issue is especially sensitive in the case of adolescent patients in order to avoid physiological stress, to reduce health risks and to improve quality of life.
Asunto(s)
Disgenesia Gonadal 46 XX , Hormonas Gonadales , Gónadas , Desarrollo Sexual/genética , Síndrome de Turner , Adolescente , Diagnóstico Diferencial , Femenino , Pruebas Genéticas , Disgenesia Gonadal 46 XX/diagnóstico , Disgenesia Gonadal 46 XX/genética , Disgenesia Gonadal 46 XX/fisiopatología , Disgenesia Gonadal 46 XX/terapia , Disgenesia Gonadal 46 XY/diagnóstico , Disgenesia Gonadal 46 XY/genética , Disgenesia Gonadal 46 XY/fisiopatología , Disgenesia Gonadal 46 XY/terapia , Hormonas Gonadales/metabolismo , Hormonas Gonadales/uso terapéutico , Gonadotropinas/metabolismo , Gónadas/metabolismo , Gónadas/fisiopatología , Humanos , Enfermedades Raras , Seminoma/etiología , Procesos de Determinación del Sexo , Resultado del Tratamiento , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Síndrome de Turner/fisiopatología , Síndrome de Turner/terapia , Adulto JovenRESUMEN
Gonadoblastomas are unusual neoplasias that frequently appear in the dysgenetic gonads of women with chromosome Y anomaly. We present two cases of gonadoblastoma associated with complete gonadal dysgenesis and Turner syndrome, respectively, with dysgerminoma overgrowth found in one case. We were interested in the DNA ploidy, the presence of Y chromosome DNA sequence and the status of chromosome 12p arm among the tumor cells. We performed cytophotometry to analyze the DNA content and fluorescence in situ hybridization (FISH) to identify the Y chromosome and the isochromosome 12p within the tumor cells. The cytophotometric result showed diploid DNA content in gonadoblastoma, whereas dysgerminoma revealed aneuploid DNA. The FISH result revealed Y chromosome DNA sequence within gonadoblastoma and dysgerminoma. Isochromosome 12p was identified in dysgerminoma, but not in gonadoblastoma. We conclude that gonadoblastoma and dysgerminoma have a strong association with the Y chromosome, and dysgerminoma overgrowth is due to further chromosomal aberrations, such as isochromosome 12p. Histological, immunohistocheimcal and molecular studies should render the correct diagnosis. Identifying dysgerminoma overgrowth is crucial since it is associated with adverse prognosis and requires additional therapy.
Asunto(s)
Trastornos de los Cromosomas/genética , Disgerminoma/genética , Disgenesia Gonadal 46 XY/genética , Gonadoblastoma/genética , Neoplasias Ováricas/genética , Síndrome de Turner/genética , Adolescente , Trastornos de los Cromosomas/patología , Trastornos de los Cromosomas/terapia , Cromosomas Humanos Par 12/genética , Cromosomas Humanos Y , Citofotometría , Disgerminoma/patología , Disgerminoma/terapia , Femenino , Predisposición Genética a la Enfermedad , Pruebas Genéticas , Disgenesia Gonadal 46 XY/patología , Disgenesia Gonadal 46 XY/terapia , Gonadoblastoma/patología , Gonadoblastoma/terapia , Humanos , Inmunohistoquímica , Hibridación Fluorescente in Situ , Neoplasias Ováricas/patología , Neoplasias Ováricas/terapia , Fenotipo , Ploidias , Valor Predictivo de las Pruebas , Síndrome de Turner/patología , Síndrome de Turner/terapiaRESUMEN
OBJECTIVE: To report a case of successful pregnancy and delivery after IVF and ET in a patient with Swyer syndrome. DESIGN: Case report. SETTING: Unit of Assisted Reproduction, Gynecology and Obstetrics Institute, University of Belgrade. PATIENT(S): A 30-year-old patient with 46,XY gonadal dysgenesis. INTERVENTION(S): Chromosomal analysis, diagnostic laparoscopy, IVF using donor oocytes, ET, and cesarean delivery. MAIN OUTCOME MEASURE(S): Successful pregnancy and live birth. RESULT(S): Successful treatment, pregnancy, and delivery. CONCLUSION(S): A patient with 46,XY gonadal dysgenesis in a donor oocyte program, can maintain a normal pregnancy and delivery.
Asunto(s)
Disgenesia Gonadal 46 XY/terapia , Infertilidad Femenina/terapia , Nacimiento Vivo , Adulto , Femenino , Disgenesia Gonadal 46 XY/complicaciones , Humanos , Recién Nacido , Infertilidad Femenina/etiología , Donación de Oocito , Embarazo , Técnicas Reproductivas Asistidas , Resultado del TratamientoRESUMEN
Hormone replacement therapy is mandatory to maintain quality of life and bone mineralization status in patients with gonadal dysgenesis. Occasionally, these patients need higher than recommended estrogen dosage to prevent signs and symptoms of hypoestrogenic state. Our 18-year-old female patient with XY sex reversal syndrome was gonadectomized and administered conventional hormone replacement therapy. Gonadoblastoma was found in the excised streak gonad. Five years after continuous replacement therapy, the patient reported unexpectedly hot flushes and amenorrhea in spite of regular hormone intake. Severe osteopenia was also detected. Unconventionally high estrogen dose was given with additional daily vitamin D and calcium supplement. Dual energy x-ray absorptiometry revealed lesser but evident osteopenia and the patient reported repeated bleeding without hot flushes on the new hormone regimen. Individualized dosage of estrogen is essential for these patients according to their bone status and subjective symptoms. Early therapy initiation along with continuous and frequent evaluation of bone status and quality of life is advised.
Asunto(s)
Disgenesia Gonadal 46 XY/terapia , Adolescente , Enfermedades Óseas Metabólicas/etiología , Estradiol/administración & dosificación , Terapia de Reemplazo de Estrógeno , Femenino , Disgenesia Gonadal 46 XY/complicaciones , Gonadoblastoma/complicaciones , Gonadoblastoma/cirugía , Sofocos/etiología , Humanos , Neoplasias Ováricas/complicaciones , Neoplasias Ováricas/cirugía , Ovario/anomalíasRESUMEN
The authors report a rare case of pure 46,XY gonadal dysgenesis (Swyer syndrome). Swyer syndrome is associated with 46,XY karyotype, primary amenorrhea as well as the presence of female internal genital tract and bilateral streak gonads in a phenotypic female. The genetic background of this syndrome includes mutations of several genes involved in the testis differentiation cascade. Mutation of the SRY gene accounts for only 10-15% of all 46,XY gonadal dysgenesis cases while the majority cases may be linked to other deficient genes involved in the sex differentiation pathway. The patient was a 16-year-old female who was referred for endocrinological evaluation because of primary amenorrhea. Physical examination revealed a phenotypic female, height 166 cm, weight: 56.5 kg, breast and pubic hair development were Tanner I. and II, respectively. She had female external genitalia. Pelvic magnetic resonance imaging showed a hypoplastic uterus and ovaries at both sides measuring 5×10 mm in size. Chromosomal analysis revealed 46,XY karyotype. Analysis of the SRY and SF1 genes showed no mutations. Serum follicle-stimulating hormone and luteinizing hormone were elevated. Serum tumor marker concentrations were normal. Prophylactic bilateral gonadectomy was performed and histological examination showed bilateral streak gonads. Hormone replacement therapy produced development of secondary sexual characters and 1.5 years after treatment the patient had menarche. Authors conclude that karyotype analysis should be performed in adolescent with primary amenorrhea. After establishment of the diagnosis, dysgenetic gonads should be removed because of the high risk of gonadal neoplasia.
Asunto(s)
Genes sry , Disgenesia Gonadal 46 XY/diagnóstico , Disgenesia Gonadal 46 XY/terapia , Hormonas Esteroides Gonadales/administración & dosificación , Mutación , Ovariectomía , Ovario/anomalías , Adolescente , Amenorrea/genética , Biomarcadores de Tumor/sangre , Proteínas de Unión al ADN/genética , Femenino , Disgenesia Gonadal 46 XY/genética , Hormonas Esteroides Gonadales/sangre , Hormonas Esteroides Gonadales/deficiencia , Humanos , Cariotipificación , Menarquia , Ovario/cirugía , Fenotipo , Pubertad , Factores de Empalme de ARN , Factor Esteroidogénico 1/genética , Factores de Transcripción/genética , Resultado del TratamientoRESUMEN
Disorders of androgen production can occur in all steps of testosterone biosynthesis and secretion carried out by the foetal Leydig cells as well as in the conversion of testosterone into dihydrotestosterone (DHT). The differentiation of Leydig cells from mesenchymal cells is the first walk for testosterone production. In 46,XY disorders of sex development (DSDs) due to Leydig cell hypoplasia, there is a failure in intrauterine and postnatal virilisation due to the paucity of interstitial Leydig cells to secrete testosterone. Enzymatic defects which impair the normal synthesis of testosterone from cholesterol and the conversion of testosterone to its active metabolite DHT are other causes of DSD due to impaired androgen production. Mutations in the genes that codify the enzymes acting in the steps from cholesterol to DHT have been identified in affected patients. Patients with 46,XY DSD secondary to defects in androgen production show a variable phenotype, strongly depending of the specific mutated gene. Often, these conditions are detected at birth due to the ambiguity of external genitalia but, in several patients, the extremely undervirilised genitalia postpone the diagnosis until late childhood or even adulthood. These patients should receive long-term care provided by multidisciplinary teams with experience in this clinical management.
Asunto(s)
Andrógenos/biosíntesis , Trastornos del Desarrollo Sexual/genética , Disgenesia Gonadal 46 XY/diagnóstico , Disgenesia Gonadal 46 XY/terapia , Hiperplasia Suprarrenal Congénita/fisiopatología , Adulto , Diferenciación Celular , Niño , Femenino , Glucocorticoides/uso terapéutico , Disgenesia Gonadal 46 XY/patología , Humanos , Lactante , Recién Nacido , Células Intersticiales del Testículo/fisiología , Masculino , Mineralocorticoides/uso terapéutico , Receptores de HL/genética , Síndrome de Smith-Lemli-Opitz/genética , Testosterona/biosíntesisRESUMEN
This article summarizes the current state of research on Sexual Quality of Life (SexQoL) of adults with 46,XY Disorders of Sex Development (DSD)/Intersexuality. An extensive literature search yield 21 studies published between 1974-2007, examining sexual aspects in individuals with 46,XY DSD. However, many of them lack methodological quality. The results are inconsistent but overall indicate that SexQoL of individuals with 46,XY DSD is impaired, particular with regard to sexual dysfunctions and sexual satisfaction. Future studies on SexQoL should focus more on qualitative aspects of sexuality and investigate medical and psychosocial risk factors such as sex-corrective surgery and parental bonding.
Asunto(s)
Trastornos del Desarrollo Sexual/psicología , Disgenesia Gonadal 46 XY/psicología , Calidad de Vida/psicología , Conducta Sexual/psicología , Adulto , Cromosomas Humanos X/genética , Cromosomas Humanos Y/genética , Trastornos del Desarrollo Sexual/genética , Disgenesia Gonadal 46 XY/diagnóstico , Disgenesia Gonadal 46 XY/genética , Disgenesia Gonadal 46 XY/terapia , Humanos , Cariotipificación , Masculino , InvestigaciónRESUMEN
Females with 46,XY complete gonadal dysgenesis are at significant risk of developing germ cell tumors, mostly gonadoblastomas. We present here the case of 2 half-sisters, sharing the same father, diagnosed with 46,XY complete gonadal dysgenesis. The 1st sister developed a gonadoblastoma and an invasive dysgerminoma, whereas the 2nd sister developed a gonadoblastoma and an invasive choriocarcinoma within the same gonad. No SRY mutation, chromosome abnormalities, or mosaicism were detected in blood. Single nucleotide polymorphism (SNP) profiling of the choriocarcinoma revealed a complex hyperdiploid pattern with gains of 1 to 4 copies of material from several autosomes, as well as the loss of the Y chromosome and a homozygous SNP profile without copy number change for the X chromosome. Our results are in agreement with the recurrent chromosome gains and losses previously published in germ cell tumors, and the coexistence of both tumors within the same gonad suggests that choriocarcinomas may derive from gonadoblastomas.
Asunto(s)
Coriocarcinoma no Gestacional/genética , Disgerminoma/genética , Disgenesia Gonadal 46 XY/genética , Gonadoblastoma/genética , Neoplasias Primarias Múltiples , Polimorfismo de Nucleótido Simple , Neoplasias Uterinas/genética , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Quimioterapia Adyuvante , Niño , Coriocarcinoma no Gestacional/patología , Coriocarcinoma no Gestacional/terapia , Deleción Cromosómica , Cromosomas Humanos Y , Disgerminoma/patología , Disgerminoma/terapia , Resultado Fatal , Femenino , Disgenesia Gonadal 46 XY/patología , Disgenesia Gonadal 46 XY/terapia , Gonadoblastoma/patología , Gonadoblastoma/terapia , Humanos , Hibridación Fluorescente in Situ , Análisis de Secuencia por Matrices de Oligonucleótidos , Hermanos , Cariotipificación Espectral , Neoplasias Uterinas/patología , Neoplasias Uterinas/terapia , Adulto JovenRESUMEN
OBJECTIVE: To provide an evidence-based guideline for professionals working with XY women. DESIGN: Review including patient cases from a Danish fertility clinic. SETTING: University-associated scientific unit and fertility clinic. PATIENT(S): Three selected cases. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Evaluation of etiology, diagnosis, treatment, and associated disorders in XY women. RESULT(S): Many gene mutations can cause abnormal fetal development leading to androgen insensitivity syndrome or gonadal dysgenesis disorders. Females with these disorders have an XY karyotype but look like girls. They are mostly diagnosed at puberty, and the condition will often lead to serious psychological problems. Increased risk of malignancies and problems with pregnancy and infertility are other aspects that should be considered. This guideline will aid doctors in caring for XY females. CONCLUSION(S): A precise diagnosis is important, because the treatment possibilities (e.g., use of allogenic oocytes) depend on the subgroup to which the XY female belongs.
Asunto(s)
Disgenesia Gonadal 46 XY/diagnóstico , Disgenesia Gonadal 46 XY/terapia , Cariotipificación , Atención al Paciente/normas , Guías de Práctica Clínica como Asunto/normas , Síndrome de Resistencia Androgénica/diagnóstico , Síndrome de Resistencia Androgénica/genética , Síndrome de Resistencia Androgénica/terapia , Animales , Femenino , Disgenesia Gonadal 46 XY/genética , Humanos , Infertilidad Femenina/diagnóstico , Infertilidad Femenina/genética , Infertilidad Femenina/terapia , Masculino , Atención al Paciente/métodosRESUMEN
The term disorders of sex development (DSD) includes congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. Mutations in genes present in X, Y or autosomal chromosomes can cause abnormalities of testis determination or disorders of sex differentiation leading to 46,XY DSD. Detailed clinical phenotypes allow the identification of new factors that can alter the expression or function of mutated proteins helping to understand new undisclosed biochemical pathways. In this review we present an update on 46,XY DSD aetiology, diagnosis and treatment based on extensive review of the literature and our three decades of experience with these patients.