RESUMO
Objective: To evaluate the incidence, treatment, and survival outcomes of Swyer syndrome with gonadal non-dysgerminoma malignant germ cell tumor (MGCT-NDG). Methods: A retrospective study was performed on Swyer syndrome patients with MGCT-NDG between January 2011 and December 2022 in Peking Union Medical College Hospital to investigate their characteristics and outcomes. Results: A total of 15 patients (4.9%, 15/307) with Swyer syndrome were identified in 307 MGCT-NDG patients. The average age at diagnosis of MGCT-NDG and Swyer syndrome were (16.8±6.7) and (16.7±6.6) years, respectively. Six cases were preoperatively diagnosed as Swyer syndrome, of which 4 cases received bilateral gonadectomy with or without hysterectomy, while the other 2 cases underwent removal of gonadal tumor and unilateral gonadectomy with hysterectomy, respectively. Of the 9 patients postoperatively diagnosed as Swyer syndrome, unilateral gonadectomy, removal of gonadal tumor, and unilateral gonadectomy with hysterectomy were performed in 6 patients, 2 patients, and 1 patient, respectively. Mixed malignant germ cell tumor (MGCT;10 cases), yolk sac tumor (4 cases), and immature teratoma (1 case) were the pathological subtypes, in the descending order. There were International Federation of Gynecology and Obstetrics (FIGO) stage â in 6 cases, stage â ¡ in 3 cases, stage â ¢ in 5 cases, and stage â £ in 1 case, respectively. Eleven patients received reoperation for residual gonadectomy after a average delay of (7.9±6.2) months, including 8 MGCT-NDG patients and 1 gonadoblastoma patient, no tumor involved was seen in the remaining gonads in the other 2 cases. Ten patients experienced at least one recurrence, with a median event free survival of 9 months (5, 30 months), of which 2 patients received surgery only at the time of initial treatment. All patients with recurrence received surgery and combined with postoperative chemotherapy. After a median follow-up of 25 months (15, 42 months), 10 patients were disease-free, 3 patients died of the tumor, 1 died of side effects of leukemia chemotherapy, and 1 survived with disease. Conclusion: The incidence rate of Swyer syndrome in patients with MGCT-NDG is about 4.9%; timely diagnosis and bilateral gonadectomy should be emphasized to reduce the risk of reoperation and second carcinogenesis in this population.
Assuntos
Disgenesia Gonadal 46 XY , Gonadoblastoma , Neoplasias Embrionárias de Células Germinativas , Neoplasias Ovarianas , Feminino , Humanos , Estudos Retrospectivos , Disgenesia Gonadal 46 XY/diagnóstico , Disgenesia Gonadal 46 XY/patologia , Disgenesia Gonadal 46 XY/cirurgia , Gonadoblastoma/patologia , Gonadoblastoma/cirurgia , Neoplasias Embrionárias de Células Germinativas/cirurgia , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/cirurgia , Neoplasias Ovarianas/patologiaRESUMO
Disorders or differences of sexual development encompasses an important group of conditions that affects up to 1 in 5,000 live births. Many individuals living in the female gender includes Turner syndrome, congenital adrenal hyperplasia and conditions with 46XY karyotype such as gonadal dysgenesis (Swyer syndrome). Individuals are commenced on high dose oestrogen to initiate and maintain development of secondary sexual characteristics such as breasts which is paramount in them identifying in the female gender. We highlight the first case of a patient with Swyer syndrome who was treated with long term oestrogen therapy and later developed breast cancer. In individuals with gonadal dysgenesis, testicular malignancy is a recognised risk and is screened for. Prolonged exposure to exogenous and endogenous hormones can increase the risk of breast cancer however how much this risk increases in those taking high dose hormones is not documented in the literature. We aim to highlight the importance of breast cancer treatment and surgical reconstruction in this group and whether they should be considered for early breast cancer screening. CONCLUSION: It is imperative that triple assessment is undertaken in every patient with a breast lump, regardless of gender identification. Clinicians must not delay investigations in this patient group due to a misunderstanding of their condition. Those on long term hormone supplementation should be entered into the breast screening program at an earlier age with Magnetic Resonance Imaging surveillance. Careful consideration of post treatment endocrine therapy is required and under the care of the multi-disciplinary team.
Assuntos
Neoplasias da Mama , Disgenesia Gonadal 46 XY , Disgenesia Gonadal , Feminino , Humanos , Neoplasias da Mama/terapia , Estrogênios , Disgenesia Gonadal 46 XY/diagnóstico , Disgenesia Gonadal 46 XY/cirurgia , Desenvolvimento SexualRESUMO
Swyer syndrome is a special form of DSD (disorders of sex development), so-called pure gonadal dysgenesis with a karyotype 46, XY and a female phenotype. One of the most important problems in patients with DSD is the risk of gonadal tumors. We present a case of a 26-year-old patient with Swyer syndrome. The patient had primary amenorrhea and no puberty characteristics. In ultrasound imaging in the vicinity of the uterus, there were two homogeneous structures. A genetic diagnosis was also performed, which showed karyotype 46, XY. The patient underwent a bilateral gonadectomy. Histopathological examination revealed the presence of dysgerminoma in both dysgenetic gonads. The follow-up of five years now did not show any changes suspected of invasion. We concluded that the primary amenorrhea, along with the absence of development of sexual characteristics, should prompt an expanded diagnosis for disorders of sex development. Gonadal dysgerminoma should be suspected even in the absence of tumor features on ultrasound and blood laboratory tests. Early prophylactic gonadectomy could protect patients from developing tumors in dysgenetic gonads.
Assuntos
Disgerminoma , Disgenesia Gonadal 46 XY , Neoplasias Ovarianas , Humanos , Feminino , Disgerminoma/diagnóstico , Disgerminoma/cirurgia , Disgerminoma/genética , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/cirurgia , Neoplasias Ovarianas/genética , Amenorreia/etiologia , Anticoncepcionais , Diagnóstico Tardio , Maturidade Sexual , Disgenesia Gonadal 46 XY/diagnóstico , Disgenesia Gonadal 46 XY/cirurgia , Disgenesia Gonadal 46 XY/genéticaRESUMO
BACKGROUND: 46XY pure gonadal dysgenesis (Swyer syndrome) is a rare disorder of sexual development. Patients have a 46XY karyotype, though phenotypically they appear female with normal external genitalia and vagina. Although patients exhibit normal Müllerian structures (uterus, fallopian tubes, and vagina), they possess a pair of bilateral undifferentiated gonad streaks. Delayed puberty and primary amenorrhea are the common presentations. There is an increased risk of developing tumors in the gonads and therefore a bilateral gonadectomy is recommended. CASE: A 16-year-old girl who presented with primary amenorrhea was diagnosed with Swyer syndrome. She underwent prophylactic bilateral gonadectomy and salpingectomies. She was discovered to have no gonadal malignancy, conversely dysgerminoma solely within the fallopian tube. SUMMARY AND CONCLUSION: Both bilateral salpingectomies and bilateral gonadectomies should be recommended as the operation of choice in patients with Swyer Syndrome.
Assuntos
Disgerminoma , Disgenesia Gonadal 46 XY , Gonadoblastoma , Neoplasias Ovarianas , Adolescente , Disgerminoma/cirurgia , Tubas Uterinas , Feminino , Disgenesia Gonadal 46 XY/complicações , Disgenesia Gonadal 46 XY/diagnóstico , Disgenesia Gonadal 46 XY/cirurgia , Humanos , Neoplasias Ovarianas/complicações , Neoplasias Ovarianas/cirurgiaRESUMO
OBJECTIVES: We compared cases of phenotypic female patients who presented with male karyotype and underwent prophylactic gonadectomy. CASE PRESENTATION: Five patients with female phenotypes presented in early adulthood with primary amenorrhoea with varying degrees of puberty. One was tall with breast development. Another was very short with clitoromegaly and multiple co-morbidities. The other three had no secondary sexual characteristics. They were examined, after which hormonal profile, karyotyping, ultrasound examination and magnetic resonance imaging were done to assess the site of gonads. Gonadectomy was performed once their 46 XY karyotype was confirmed. Results of histopathological examination of their gonads ranged from dysgenetic gonads to having testicular tissues and malignancy. CONCLUSION: Female patients with 46 XY karyotypes require prophylactic gonadectomy performed at different timings depending on diagnosis due to the malignancy risk. Pre-operative assessment is essential to locate the gonads prior to surgery.
Assuntos
Castração , Disgenesia Gonadal 46 XY/cirurgia , Procedimentos Cirúrgicos Profiláticos , Adolescente , Adulto , Biomarcadores , Biópsia , Castração/métodos , Feminino , Disgenesia Gonadal 46 XY/diagnóstico , Gônadas/patologia , Gônadas/cirurgia , Humanos , Imageamento por Ressonância Magnética , Fenótipo , Neoplasias Urogenitais/prevenção & controle , Adulto JovemRESUMO
Complete gonadal dysgenesis (CGD) or Swyer syndrome is characterised by sexual infantilism in a phenotypic female with 46, XY karyotype. Patients with gonadal dysgenesis and Y-chromosome material are at a high risk of developing gonadoblastoma and dysgerminoma. A 16-year-old girl presented with progressive virilisation, poor breast development and primary amenorrhea. On evaluation, she was found to have male-range serum testosterone, large abdominopelvic mass lesion, elevated germ cell tumour markers and 46, XY karyotype. She underwent surgical excision of left gonadal mass and right streak gonad, histopathology of which revealed dysgerminoma and gonadoblastoma, respectively. A diagnosis of virilising germ cell tumour arising in the setting of 46, XY CGD was, therefore, made. This case highlights a rare presentation of 46, XY CGD and the need to consider early prophylactic gonadectomy in patients affected with this rare condition. The presence of dysgerminoma/gonadoblastoma should be suspected if a hitherto phenotypic female with CGD undergoes virilisation.
Assuntos
Disgerminoma/cirurgia , Disgenesia Gonadal 46 XY/cirurgia , Gonadoblastoma/cirurgia , Neoplasias Ovarianas/cirurgia , Adolescente , Disgerminoma/etiologia , Disgerminoma/patologia , Feminino , Disgenesia Gonadal 46 XY/complicações , Disgenesia Gonadal 46 XY/patologia , Gonadoblastoma/etiologia , Gonadoblastoma/patologia , Humanos , Neoplasias Primárias Múltiplas/cirurgia , Neoplasias Ovarianas/etiologia , Neoplasias Ovarianas/patologia , Doenças RarasRESUMO
BACKGROUND: Complete 46XY gonadal dysgenesis (Swyer syndrome) is a rare and challenging diagnosis among prepubertal girls, as estrogen insufficiency becomes evident only during adolescence, with nonspecific symptoms such as primary amenorrhea and/or delayed puberty. Unfortunately, girls with Swyer syndrome are at high risk for malignancies in the dysgenetic gonads, which can be prevented only by performing prophylactic bilateral gonadectomy. CASE: We present a 9-year-old patient with Swyer syndrome diagnosed with dysgerminoma in the right gonad and gonadoblastoma in the left gonad after prophylactic bilateral gonadectomy. SUMMARY AND CONCLUSION: Concerning the high risk of early gonadoblastoma and its malignant transformation, we recommend performing prophylactic bilateral gonadectomy at the time of diagnosis, even if the patient is prepubertal.
Assuntos
Disgerminoma/genética , Disgenesia Gonadal 46 XY/complicações , Gonadoblastoma/genética , Neoplasias Ovarianas/genética , Castração , Criança , Disgerminoma/patologia , Disgerminoma/prevenção & controle , Feminino , Disgenesia Gonadal 46 XY/diagnóstico , Disgenesia Gonadal 46 XY/cirurgia , Gonadoblastoma/patologia , Gonadoblastoma/prevenção & controle , Humanos , Neoplasias Ovarianas/patologia , Neoplasias Ovarianas/prevenção & controle , Procedimentos Cirúrgicos ProfiláticosRESUMO
The testicular prosthesis can be an afterthought for providers when performing an orchiectomy for testicular cancer, torsion, atrophic testis, or trauma. However, data suggest that patients find the offer of a testicular prosthesis and counseling regarding placement to be extremely important from both a pragmatic and a psychosocial perspective. Only two-thirds of men undergoing orchiectomy are offered an implant at the time of orchiectomy and of those offered about one-third move forward with prosthesis placement. The relatively low acceptance rate is in stark contrast with high patient satisfaction and low complication rates for those who undergo the procedure. The most common postoperative patient concerns are minor and involve implant positioning, size, and weight. Herein, we provide an up-to-date review of modern preoperative evaluation, patient selection, expectation management, surgical technique, and expected outcomes for testicular prostheses.
Assuntos
Aconselhamento , Satisfação do Paciente , Seleção de Pacientes , Implantação de Prótese/métodos , Doenças Testiculares/cirurgia , Procedimentos Cirúrgicos Urológicos Masculinos/métodos , Disgenesia Gonadal 46 XY/cirurgia , Humanos , Masculino , Orquiectomia , Complicações Pós-Operatórias/epidemiologia , Torção do Cordão Espermático/cirurgia , Neoplasias Testiculares/cirurgia , Testículo/anormalidades , Testículo/lesões , Testículo/cirurgiaRESUMO
We report on a case of a 14-year-old phenotypic female with a microdeletion at 13q31.1-q31.3, dysmorphic facial and limb features, and neurologic symptoms. She presented to her pediatrician with concerns for delayed puberty, and laboratory analysis revealed hypergonadotropic hypogonadism. She was found to have an XY karyotype and streak gonads. Further genetic studies did not reveal another cause for her gonadal dysgenesis and, to our knowledge, an association with her known 13q-microdeletion has not yet been reported. Given the risk of malignancy with XY gonadal dysgenesis, the patient had surgery to remove the gonads and had no postoperative complications after a 6-month follow-up visit. We also discuss the role of the pediatrician in cases of delayed puberty, from initial diagnosis to definitive management. [Pediatr Ann. 2019;48(12):e495-e500.].
Assuntos
Amenorreia/fisiopatologia , Disgenesia Gonadal 46 XY/diagnóstico , Disgenesia Gonadal 46 XY/cirurgia , Ductos Paramesonéfricos/cirurgia , Puberdade Tardia/etiologia , Adolescente , Amenorreia/etiologia , Feminino , Seguimentos , Testes Genéticos , Humanos , Hipogonadismo/cirurgia , Fenótipo , Puberdade Tardia/fisiopatologia , Doenças Raras , Medição de Risco , Resultado do TratamentoRESUMO
OBJECTIVE: To identify the genetic cause of a pedigree with four patients with 46,XY pure gonadal dysgenesis (PGD). DESIGN: Genetic mutation study. SETTING: Academic medical center. PATIENT(S): Four first cousins, from three households of a Chinese pedigree, affected by 46,XY PGD. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): The patients were studied from clinical and genetic perspectives. Whole-genome sequencing was conducted in family members. RESULT(S): Four first cousins in the third generation were affected by 46,XY PGD. A specific familial characteristic was the prevalence of as high as 100% of gonadal tumors in patients. Whole-genome sequencing identified a new ferritin heavy chain-like 17 (FTHL17) mutation, c.GA442_443TT (p.E148L), which has the potential to interfere with protein function and cause 46,XY PGD. Moreover, the location (Xp21.2) of the FTHL17 gene proves that the family is X-linked recessive. In vitro functional study revealed that the perturbation of FTHL17 caused the decrease of protein expression and cell proliferation. CONCLUSION(S): We describe the first 46,XY PGD pedigree that may be attributed to mutations of the FTHL17 gene. We speculated that the FTHL17 gene is involved in the testis-determining pathway and tumorigenesis.
Assuntos
Apoferritinas/genética , Disgenesia Gonadal 46 XY/genética , Mutação , Neoplasias de Tecido Gonadal/genética , Adolescente , Adulto , Apoferritinas/metabolismo , Proliferação de Células , Análise Mutacional de DNA , Feminino , Predisposição Genética para Doença , Disgenesia Gonadal 46 XY/diagnóstico , Disgenesia Gonadal 46 XY/metabolismo , Disgenesia Gonadal 46 XY/cirurgia , Células HEK293 , Hereditariedade , Humanos , Neoplasias de Tecido Gonadal/diagnóstico , Neoplasias de Tecido Gonadal/metabolismo , Neoplasias de Tecido Gonadal/cirurgia , Linhagem , FenótipoRESUMO
Uterus transplantation is an emerging technology adding to the arsenal of treatments for infertility; specifically the only available treatment for uterine factor infertility. Ethical investigations concerning risks to uteri donors and transplant recipients have been discussed in the literature. However, missing from the discourse is the potential of uterus transplantation in other groups of genetically XY women who experience uterine factor infertility. There have been philosophical inquiries concerning uterus transplantation in genetically XY women, which includes transgender women and women with complete androgen insufficiency syndrome. We discuss the potential medical steps necessary and associated risks for uterus transplantation in genetically XY women. Presently, the medical technology does not exist to make uterus transplantation a safe and effective option for genetically XY women, however this group should not be summarily excluded from participation in trials. Laboratory research is needed to better understand and reduce medical risk and widen the field to all women who face uterine factor infertility.
Assuntos
Disgenesia Gonadal 46 XY/cirurgia , Transplante de Órgãos/ética , Pessoas Transgênero , Útero/fisiologia , Feminino , Acessibilidade aos Serviços de Saúde/organização & administração , Humanos , Masculino , Transplante de Órgãos/efeitos adversos , Transplante de Órgãos/métodos , Autonomia Pessoal , Qualidade de VidaRESUMO
Swyer syndrome also known as pure or complete gonadal dysgenesis is a very rare disorder of sex development wherein the individuals are phenotypically females with 46, XY genotype and preserved mullerian structures. These individuals characteristically have dysgenetic streak gonads which carry an increased risk of malignant transformation. Prophylactic gonadectomy is highly recommended as soon as a clinical diagnosis is established to diminish the chances of tumor development. We present a case of complete gonadal dysgenesis with bilateral small gonads with a dysgerminoma arising in a background of gonadoblastoma in one gonad and immature teratoma in the other. The present case, besides adding a rare case to the literature, highlights the importance of detailed pre-operative assessment of gonadal size and prompt prophylactic gonadectomy in cases with gonadal dysgenesis.
Assuntos
Castração , Disgenesia Gonadal 46 XY/patologia , Disgenesia Gonadal 46 XY/cirurgia , Ovário/patologia , Adulto , Disgerminoma/patologia , Disgerminoma/cirurgia , Feminino , Gonadoblastoma/patologia , Gonadoblastoma/cirurgia , Humanos , Masculino , Neoplasias Ovarianas/patologia , Neoplasias Ovarianas/cirurgia , Procedimentos Cirúrgicos Profiláticos , Teratoma/patologia , Teratoma/cirurgiaRESUMO
BACKGROUND/PURPOSE: Vanishing Testes Syndrome1 (VTS) is one of the most common causes of impalpable testes in children. The role of removal of testicular nubbins owing to malignant potential in VTS is unclear. We sought to evaluate whether testicular nubbins need to be excised owing to this potential. METHODS: We conducted a retrospective review of children with a clinical diagnosis of impalpable testes aged 0-18 who presented to our tertiary hospital between 2007 and 2017. VTS was defined as the presence of hypoplastic vas entering a closed internal inguinal ring or remnants of gonadal tissue distally. Data collected included: age at operation, need for laparoscopy, location of nubbin and histopathological findings. RESULTS: We identified 50 consecutive children (mean age 2.4â¯years, range: 7â¯months to 12â¯years) with a clinical diagnosis of impalpable testis. Forty-eight of the 50 underwent laparoscopy with no testicle palpable when examined under anesthesia. Thirty-three children had VTS confirmed at laparoscopy and testicular nubbins identified with three of these being bilateral. Thirty-two children had these nubbins excised with histopathology available for 31 individual testes. Thirty were confirmed testicular nubbins with no viable testicular tissue. No malignancies were identified. CONCLUSION: Results from this study show that testicular nubbins do not have viable germ cells and therefore do not need to be excised on the basis of malignant potential of residual testicular tissue. LEVEL OF EVIDENCE: Level IV treatment study.
Assuntos
Disgenesia Gonadal 46 XY/cirurgia , Laparoscopia/estatística & dados numéricos , Testículo/anormalidades , Criança , Pré-Escolar , Células Germinativas , Humanos , Lactente , Canal Inguinal/anormalidades , Canal Inguinal/cirurgia , Laparoscopia/métodos , Masculino , Orquiectomia/estatística & dados numéricos , Estudos Retrospectivos , Centros de Atenção Terciária , Testículo/cirurgiaRESUMO
OBJECTIVE: Y-chromosome gonadal dysgenesis (GD) is a rare subgroup of disorders of sexual development (DSD) which results from underdeveloped testis and may exhibit heterogenous symptoms. These patients are phenotypically classified into two groups - complete and partial, and their karyotypic description is either 46,XY GD or 45,X/46,XY GD. In this study; we aimed to evaluate the characteristics of cases with Y-chromosome GD. METHODS: Thirty eight cases were followed-up between 1998 and 2016. The age of admission ranged between 0 and 17 years. Clinical and laboratory findings as well as follow-up characteristics of the cases were evaluated retrospectively from the patient files. RESULTS: There were 26 cases (four complete, 22 partial) in the 46,XY GD group, and 12 cases (four complete, 8 patients with complete GD in the 45,X/46,XY. Mean age at admission was 6.2±4.6 years for all cases. Patients with complete GD in the 45,X/46,XY GD group were diagnosed earlier that the patients with complete GD in the 46,XY group [11 years vs. 14.31 years of age (p<0.01)]. There were no additional findings in 55% of all patients. In the remaining 45% additional clinical findings, mainly short stature, were detected in 75% of the patients in the 45,X/46,XY GD and 30% of the patients in the 46,XY GD groups. All patients with complete 46,XY and 45,X/46,XY GD were raised as females. There was no gender dysphoria in patients that were raised as females, except for one case. Gonadectomy was performed in 14 patients, at a mean age of 8.75±2.3 years and pathological assessment of the gonads was reported as normal in all cases. CONCLUSION: Y-chromosome GD is a very heterogenous clinical and genetic disorder and requires a multifaceted approach to management. Whether including syndromic features or not, associated clinical features may lead to earlier diagnosis, especially in complete forms of GD. Due to difficulties encountered in the long-term follow-up of these patients, evaluation of appropriateness of sex of rearing decision is not truly possible. Performance of gonadectomy during the first decade appears be a preventive factor for tumor development since these tumors are usually seen during the second decade.
Assuntos
Disgenesia Gonadal 46 XY/diagnóstico , Disgenesia Gonadal Mista/diagnóstico , Adolescente , Adulto , Castração , Criança , Pré-Escolar , Feminino , Seguimentos , Disgenesia Gonadal 46 XY/genética , Disgenesia Gonadal 46 XY/cirurgia , Disgenesia Gonadal Mista/genética , Disgenesia Gonadal Mista/cirurgia , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Adulto JovemRESUMO
There is no consensus in the literature about the necessity for excision of testicular remnants in the context of surgery for an impalpable testis and testicular regression syndrome (TRS). The incidence of germ cells (GCs) within these nubbins varies between 0 and 16% in previously published series. There is a hypothetical potential future malignancy risk, although there has been only one previously described isolated report of intratubular germ-cell neoplasia. Our aim was to ascertain an accurate incidence of GCs and seminiferous tubules (SNTs) within excised nubbins and hence guide evidence-based practice. The systematic review protocol was designed according to the PRISMA guidelines, and subsequently published by the PROSPERO database after review (CRD42013006034). The primary outcome measure was the incidence of GCs and the secondary outcome was the incidence of SNTs. The comprehensive systematic review included articles published between 1980 and 2016 in all the relevant databases using specific search parameters and terms. Strict inclusion and exclusion criteria were ultilised to identify articles relevant to the review questions. Twenty-nine paediatric studies with a total of 1455 specimens were included in the systematic review. The mean age of the patients undergoing nubbin resection was 33 months and the TRS specimen was more commonly excised from the left (68%). The incidence of SNTs was 10.7% (156/1455) and the incidence of GCs, 5.3% (77/1455). Histological analysis excluding the presence of either SNTs or GCs was consistent with TRS, fibrosis, calcification or haemosiderin deposits. There is limited evidence on subset analysis that GCs and SNTs may persist with increasing patient age. This systematic review has identified that 1 in 20 of resected testicular remnants has viable GCs and 1 in 10 has SNTs present. There is insufficiently strong evidence for the persistence of GCs and SNTs with time or future malignant potential. Intra-abdominal TRS specimens may contain more elements and, therefore, require excision, although this is based on limited evidence. However, there is no available strong evidence to determine that a TRS specimen requires routine excision in an inguinal or scrotal position.
Assuntos
Células Germinativas/citologia , Disgenesia Gonadal 46 XY/patologia , Túbulos Seminíferos/patologia , Testículo/anormalidades , Criptorquidismo/patologia , Criptorquidismo/cirurgia , Disgenesia Gonadal 46 XY/cirurgia , Humanos , Masculino , Testículo/patologia , Testículo/cirurgiaRESUMO
Context: Little is known about long-term health outcomes in phenotypic females with 46,XY disorders of sex development (XY females), and the socioeconomic profile has not been described in detail. Objective: To describe morbidity, mortality, and socioeconomic status in XY females in a comparison to the general population. Design: Nationwide registry study with complete follow-up. Setting: Uniform public health care system. Participants: A total of 123 XY females karyotyped in Denmark during 1960 to 2012 and a randomly selected age-matched control cohort of 12,300 females and 12,300 males from the general population. Main Outcome Measures: Overall mortality and morbidity as well as cause-specific morbidity; medicine use and socioeconomics (education, income, cohabitation, motherhood, and retirement). Results: Compared with female controls, overall morbidity was increased in XY females [hazard ratio (HR), 1.72; 95% confidence interval (CI), 1.43 to 2.08] but not when excluding diagnoses associated with the specific disorder of sex development (DSD) diagnosis or pregnancy and birth (HR, 1.13; CI, 0.93 to 1.37). Mortality was similar to controls (HR, 0.79; CI, 0.35 to 1.77). Cohabitation (HR, 0.44; CI, 0.33 to 0.58) and motherhood (HR, 0.10; CI, 0.05 to 0.18) were reduced in XY females but education (HR, 0.92; CI, 0.61 to 1.37) was similar to controls. Income was higher than among controls in the older years. Conclusions: Morbidity was not increased in XY females when excluding diagnoses associated to the DSD condition per se. Judged on education and income, XY females perform well in the labor market. However, DSD seems to impact on the prospects of family life.
Assuntos
Disgenesia Gonadal 46 XY/epidemiologia , Adolescente , Adulto , Estudos de Casos e Controles , Castração/métodos , Criança , Pré-Escolar , Dinamarca/epidemiologia , Feminino , Disgenesia Gonadal 46 XY/tratamento farmacológico , Disgenesia Gonadal 46 XY/genética , Disgenesia Gonadal 46 XY/cirurgia , Humanos , Lactente , Recém-Nascido , Masculino , Morbidade , Neoplasias/epidemiologia , Neoplasias/genética , Aposentadoria , Fatores Socioeconômicos , Adulto JovemAssuntos
Disgerminoma/diagnóstico , Disgenesia Gonadal 46 XY/patologia , Gonadoblastoma/diagnóstico , Linfonodos/patologia , Metástase Linfática/diagnóstico , Neoplasias Ovarianas/diagnóstico , Adolescente , Disgerminoma/complicações , Disgerminoma/cirurgia , Feminino , Disgenesia Gonadal 46 XY/cirurgia , Gonadoblastoma/complicações , Gonadoblastoma/cirurgia , Humanos , Histeroscopia , Neoplasias Ovarianas/complicações , Neoplasias Ovarianas/cirurgiaRESUMO
OBJECTIVE: To determine if vanishing testis could result from a fault in embryological development as a result of an arrest in endothelial cell migration rather than secondary to just a random physical torsion/twist. A testicular nubbin or vanishing testis is considered to be secondary to a neonatal torsion and is usually associated with a hemosiderin deposit. MATERIALS AND METHODS: Cases of vanishing testis excision were compared with age-matched controls from cadaveric testes without known genitourinary pathology. To assess the testis microvasculature, we performed immunohistochemistry using an automated staining platform with controlled and standardized conditions and positive and negative controls. We used cluster of differentiation (CD) 34 to stain blood vessel endothelium, stem cells, and interstitium; CD31 (all endothelium); and D2-40 for lymphatic endothelium. Morphometric analysis was carried out, % of the total tissue with CD31 and CD34 positive stain was assessed, and the number of the lymphatic vessels (D2-40) per mm2 was counted. RESULTS: Of the 10 cases, 7 had evidence of hemosiderin deposit and calcification. The % distribution of CD34 in controls was higher, 13.4 ± 3.1 (mean ± standard deviation), compared to nubbin cases, 4.5 ± 2.9 (P ≤ .001). The % distribution of CD31 was 2.8 ± 0.83 in controls compared to 1.31 ± 0.60 in cases (P ≤ .001). The lymphatic distribution was similar in both groups, cases (6.4 ± 4.3 n/mm2) and controls (6.4 ± 1.7 n/mm2) (P = .99) CONCLUSION: This histopathological study suggests that disturbances in endothelial development may be a contributing factor leading to testicular hypoplasia and a resultant nubbin testis, independent of a physical torsion event.
Assuntos
Vasos Linfáticos/anormalidades , Microvasos/crescimento & desenvolvimento , Doenças Testiculares/patologia , Testículo/irrigação sanguínea , Antígenos CD34/metabolismo , Biomarcadores/metabolismo , Progressão da Doença , Endotélio Vascular/anormalidades , Endotélio Vascular/crescimento & desenvolvimento , Disgenesia Gonadal 46 XY/cirurgia , Hemossiderina/metabolismo , Humanos , Imuno-Histoquímica , Lactente , Vasos Linfáticos/diagnóstico por imagem , Masculino , Microvasos/diagnóstico por imagem , Orquiectomia , Projetos Piloto , Molécula-1 de Adesão Celular Endotelial a Plaquetas/metabolismo , Estudos Retrospectivos , Doenças Testiculares/metabolismo , Testículo/anormalidades , Testículo/cirurgiaRESUMO
46,XY pure gonadal dysgenesis (Swyer syndrome) is a rare cause of disorder of sexual development. It is a genetic aberration characterized by a 46,XY karyotype which are phenotypical females, with female genitalia at birth, and normal Müllerian structures. The condition usually becomes apparent first in adolescence with delayed puberty and primary amenorrhea. Herein the authors present the case of a 27-year-old woman with primary amenorrhea and undeveloped breasts. The patient had pure 46,XY gonadal dysgenesis with hypoplastic uterus, estrogen treatment for amenorrhea, and no neoplastic changes on the histopathology report. The authors highlight the high risk of neoplastic transformation of the patient with gonadal dysgenesis, and 46,XY karyotype should be referred for bilateral gonadectomy. Once the diagnosis of Swyer syndrome is established, early treatment is crucial to prevent the development of gonadal malignancy and to enable a normal sex life, and even carry a fetus in an immature uterus.