RESUMEN
INTRODUCTION: Mixed gonadal dysgenesis (MGD) is a rare disorder of sexual development. The management of MGD is challenging since the disease significantly impacts a patient's growth, hormone balance, and gonadal development. This article used a large population and a long follow-up period for its analysis. OBJECTIVES: This study aims to summarize the gender determination basis and analyze the long-term follow-up of mixed gonadal dysgenesis. METHODS: A total of 45 patients' clinical data were summarized and analyzed. Patients were divided by gender. Next, we followed up regarding the occurrence of complications after surgery, the patients' satisfaction with external genitalia appearance, the growth of the patients, counting the surgical pattern the incidence of surgical complications and the development of the patients' growth. All patients included in this study underwent chromosomal karyotype analysis, abdomen exploration, and pathological biopsy. After sex determination, 7 patients who were raised as female underwent clitoroplasty, and bilateral gonadectomy. 38 male patients underwent urethroplasty + one-sided gonadectomy. RESULTS: Patient follow-up started in the third month after surgery. Female patients reported no surgery-related complications, while 14 male patients showed surgery-related complications. Additionally, 20 male patients (60.6 %) had a lower height compared to normal peers, 12 of which (36.4 %) were lower than the second standard deviation of the height of normal peers. CONCLUSION: The clinical manifestations of mixed gonadal dysgenesis are variable, and the management is complicated. Children's gonadal function, external genital conditions, psychological evaluation, and parents' wishes should be considered before sex determination. In China, most patients are raised as males with a high incidence of postoperative complications. We found that short stature is a common feature in male patients, thus their height and growth should be carefully supervised. Patients should pay attention to their sexual function and sexual potential during adulthood.
Asunto(s)
Disgenesia Gonadal Mixta , Humanos , Masculino , Femenino , Disgenesia Gonadal Mixta/cirugía , Disgenesia Gonadal Mixta/diagnóstico , Estudios de Seguimiento , Niño , Preescolar , Adolescente , Factores de Tiempo , Estudios Retrospectivos , LactanteRESUMEN
SUMMARY A gonadal tumor was diagnosed in the first months of life in a patient with genital ambiguity, a 45,X/46,XY karyotype, and mixed gonadal dysgenesis. Gonadal biopsies at the age of 3 months revealed dysgenetic testes and a gonadoblastoma on the right testis. Even though gonadal tumors are rare in childhood, this case indicates that prophylactic removal of dysgenetic gonads should be performed as early as possible, especially when the female sex is assigned to a patient with a Y-chromosome sequence.
Asunto(s)
Humanos , Masculino , Femenino , Lactante , Neoplasias Testiculares/patología , Gonadoblastoma/patología , Disgenesia Gonadal Mixta/patología , Neoplasias Testiculares/cirugía , Neoplasias Testiculares/etiología , Testículo/patología , Biopsia , Factores de Riesgo , Resultado del Tratamiento , Gonadoblastoma/cirugía , Gonadoblastoma/etiología , Disgenesia Gonadal Mixta/cirugía , Disgenesia Gonadal Mixta/complicacionesRESUMEN
A gonadal tumor was diagnosed in the first months of life in a patient with genital ambiguity, a 45,X/46,XY karyotype, and mixed gonadal dysgenesis. Gonadal biopsies at the age of 3 months revealed dysgenetic testes and a gonadoblastoma on the right testis. Even though gonadal tumors are rare in childhood, this case indicates that prophylactic removal of dysgenetic gonads should be performed as early as possible, especially when the female sex is assigned to a patient with a Y-chromosome sequence.
Asunto(s)
Disgenesia Gonadal Mixta/patología , Gonadoblastoma/patología , Neoplasias Testiculares/patología , Biopsia , Femenino , Disgenesia Gonadal Mixta/complicaciones , Disgenesia Gonadal Mixta/cirugía , Gonadoblastoma/etiología , Gonadoblastoma/cirugía , Humanos , Lactante , Masculino , Factores de Riesgo , Neoplasias Testiculares/etiología , Neoplasias Testiculares/cirugía , Testículo/patología , Resultado del TratamientoRESUMEN
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.
Asunto(s)
Disgenesia Gonadal 46 XY/diagnóstico , Disgenesia Gonadal Mixta/diagnóstico , Adolescente , Adulto , Castración , Niño , Preescolar , Femenino , Estudios de Seguimiento , Disgenesia Gonadal 46 XY/genética , Disgenesia Gonadal 46 XY/cirugía , Disgenesia Gonadal Mixta/genética , Disgenesia Gonadal Mixta/cirugía , Humanos , Lactante , Recién Nacido , Masculino , Estudios Retrospectivos , Adulto JovenRESUMEN
UNLABELLED: Mixed gonadal dysgenesis is characterised by unilateral chromosomal abnormality, which is probably the result of anaphase lag during mitosis. The 45, XO/46, XY karyotype is the most common form of mosaicism involving the Y chromosome. It is a rare clinical entity with a worldwide incidence of 1.5/10,000 live births. Its epidemiology in Sub-Saharan Africa is not known. This study reports experience in the management of 3 cases at the Yaounde Gynecologic-Obstetric and Paediatric Hospital. From November 2009 to November 2014, 3 cases were successfully managed at our institution. RESULTS: All patients presented with asymmetrical gonadal differentiation. On one side of the body, a poorly-developed testicular gonad and on the other side a gonadal streak. A persistent MÏllerian remnant was equally found in the 3 cases. Management of mixed gonadal dysgenesis should be done in tertiary health care centres. A multidisciplinary team approach is recommended.
Asunto(s)
Disgenesia Gonadal Mixta/diagnóstico , Disgenesia Gonadal Mixta/cirugía , Adolescente , Camerún , Niño , Preescolar , Humanos , MasculinoRESUMEN
La diferenciación sexual es un proceso genéticamente determinado y controlado, que puede ser alterado por diferentes tipos de mutaciones genéticas, o por el efecto de hormonas u otros disruptores ambientales que actúan sobre el embrión, resultando en la formación de genitales externos que no se corresponden con el sexo genético y con los genitales internos. La disgenesia gonadal mixta clasifica en los desórdenes de la diferenciación sexual de causa cromosómica. Se describe un paciente de un año de edad que es atendido en el Hospital Pediátrico “Juan Manuel Márquez”, por presentar genitales externos atípicos. El diagnóstico del paciente fue de disgenesia gonadal mixta, y se realizó con los complementarios siguientes: ecografía ginecológica, estudios hormonales y cariotipo. El tratamiento instaurado inicialmente, fue quirúrgico en dos tiempos operatorios, y el seguimiento hormonal hasta la pubertad (14 años), cuando se inició terapia de reemplazo hormonal según lo establecido por la edad de la paciente.
Sex differentiation is a genetically determined and controlled process that may be altered by various types of genetic mutations or by the effect of hormones or other environmental disruptors acting upon the embryo. The result is the formation of external genitalia that does not match with the genetic sex and the internal genitalia. Mixed gonadal dysgenesis is classified into the sexual differentiation disorders of chromosomal cause. Here is a one-year old child, who was seen at “Juan Manuel Marquez” pediatric hospital since he presented with atypical external genitalia. The diagnosis was mixed gonadal dysgenesis, based on supplementary tests like gynecological echography, hormone studies and karyotype. The initial treatment was surgical in two surgical times, and the hormonal follow-up lasted till puberty (14 years) when the hormone replacement therapy started according to the indications for the patient's age.
Asunto(s)
Humanos , Femenino , Diferenciación Sexual/genética , Disgenesia Gonadal Mixta/cirugía , Disgenesia Gonadal Mixta/diagnóstico , Cromosomas SexualesRESUMEN
A child born with ambiguous genitalia (Prader III) was found to have a 45,X[92.2%]/46,X,psu dic(Y)(p12)[7.8%] karyotype in peripheral blood lymphocytes. The testosterone level was consistent with that of a normal male; however, gonadotropins were elevated. Ultrasound and endoscopy of the urogenital sinus revealed well-developed Müllerian structures. At 3.5 months, the child was operated for right-sided incarcerated hernia, and the gonad situated at the inguinal region was biopsied and classified as primitive testis. Based on the presence of Müllerian structures, anatomy of external genitalia and wish of the parents, the child was assigned female gender. She underwent removal of the left gonad at 4 months during another acute surgery; histology was similar to the right gonad. The rest of the right gonad was removed at 16 months, and feminizing genitoplasty took place at 3 years. The right and left gonad contained 28 and 22% of cells with a Y chromosome, respectively. During further histological examination, dysgenetic features of the gonads were discovered. Some germ cells displayed abnormal development based on the specific expression of immunohistochemical markers (OCT3/4, TSPY, KITLG), indicating a possible risk for future malignant germ cell tumor development. Contribution of the 45,X cell line to the phenotype was also observed: the patient developed celiac disease, and her growth pattern resembled that of Turner syndrome responding to growth hormone treatment.
Asunto(s)
Trastornos del Desarrollo Sexual/genética , Disgenesia Gonadal Mixta/genética , Gónadas/patología , Estatura , Peso Corporal , Enfermedad Celíaca/complicaciones , Cromosomas Humanos Y/genética , Trastornos del Desarrollo Sexual/patología , Trastornos del Desarrollo Sexual/cirugía , Femenino , Disgenesia Gonadal Mixta/patología , Disgenesia Gonadal Mixta/cirugía , Gónadas/química , Gónadas/cirugía , Hormona de Crecimiento Humana/uso terapéutico , Humanos , Inmunohistoquímica , Masculino , Mosaicismo , Factor 3 de Transcripción de Unión a Octámeros/análisis , Fenotipo , Aberraciones Cromosómicas Sexuales , Testículo/patología , Síndrome de Turner/genética , Útero/patologíaRESUMEN
There are two forms of gonadal dysgenesis - mixed and pure. In the mixed form, some differentiated gonads as well as some either ovarian or testicular rudiments are present. This form results in a number of phenotypes with a possibility of malignant transformation. In the pure form occurring in female gender, also some rudimental gonads are bilaterally present. In the case of simultaneous presence of Y chromosome, also some malignant transformation may appear (Siklar et al. 2007). Chromosomal aberrations are present in 2-7 % adult pairs with fertility disorders and in 0.6 % of newborns. However, only few cases with similar chromosomal aberrations were described so far (Roubin et al. 1977; Alexander et al. 1978; Teyssier et al. 1982; Caglayan et al. 2009). Mixed gonadal dysgenesis presents as a unilateral testis, usually intraabdominal, also with a streak gonad on contralateral side, and persistent mullerian structures. 45X/45XY karyotype is the most frequent in such cases with predominance of 45X cells in both peripheral lymphocytes and gonads. We present a rare case of a left undescended testis, normally descended right testis, with penoscrotal hypospadias, who had a normal karyotype and whose histopathological findings were endometrial tissue and fallopian tube in left testicular biopsy. Gonadal dysgenesis should always be kept in mind because of a possibility of undescended testis and proximal hypospadias. If karyotype reveals a 46XY gonadal dysgenesis, these patients need the careful follow-up to screen for gonadoblastoma in remaining normal testis. Subjecting the patients to prophylactic orchidectomy with hormone replacement can be an additional option in such patients.
Asunto(s)
Aberraciones Cromosómicas , Disgenesia Gonadal Mixta/genética , Disgenesia Gonadal Mixta/patología , Trastornos Ovotesticulares del Desarrollo Sexual/genética , Trastornos Ovotesticulares del Desarrollo Sexual/patología , Adulto , Factores de Edad , Femenino , Estudios de Seguimiento , Disgenesia Gonadal Mixta/cirugía , Humanos , Hipogonadismo/genética , Hipogonadismo/patología , Masculino , Trastornos Ovotesticulares del Desarrollo Sexual/cirugíaRESUMEN
INTRODUCTION: The mosaicism 45, X/46, XY is a gonosomal abnormality characterized by a broad phenotypic spectrum, ranging from women with or without Turner syndrome stigmata, to men apparently normal, passing by the ambiguous phenotypes with variable virilisation of external genitalia. From the histological point of view, several situations may arise. PATIENTS AND METHODS: We analyzed the clinical, hormonal, sonographic, and genitographics data, as well as peroperative and histological findings for five cases of mosaicism 45, X/46, XY, and we discussed treatment performed. RESULTS: The mean age of patients was 6.6 years, two had a female phenotype with clitoral hypertrophy (one of them had Turner syndrome stigmata), one had a normal male phenotype with bilateral cryptorchidism and two had an ambiguity of external genitalia assigned to male. Short stature was noted for four patients. Surgical exploration concluded to the diagnosis of mixed gonadal dysgenesis for four of our patients. No cases of gonadoblastoma have been reported, for girls a prophylactic gonadectomy was performed, for boys the streak gonad was resected and the dysgenetic testis biopsied and preserved, subject for constant monitoring. CONCLUSION: This heterogeneity indicate the importance of an accurate clinical and histological evaluation of any patient presenting with 45, X/46,XY mosaicism.
Asunto(s)
Disgenesia Gonadal Mixta/genética , Mosaicismo , Aberraciones Cromosómicas Sexuales , Síndrome de Turner/genética , Niño , Preescolar , Cromosomas Humanos X/genética , Cromosomas Humanos Y/genética , Femenino , Genitales/anomalías , Genitales/crecimiento & desarrollo , Genitales/cirugía , Disgenesia Gonadal Mixta/cirugía , Humanos , Lactante , Masculino , Síndrome de Turner/cirugíaRESUMEN
Disorders of sexual development (DSD) include three main groups of patients: (1) The virilised 46,XX DSD essentially represented by congenital adrenal hyperplasia (CAH) ; (2) The undervirilised 46,XY DSD essentially represented by hypospadias; and (3) the chromosomic jigsaws essentially represented by mixed gonadal dysgenesis. It is in this last group that gender assignment remains a difficult decision involving various indicators, which can be split into four categories: (1) the inside sex (i.e., genes, hormones and target tissues); (2) the outside sex (i.e., anatomy of genitalia including size of the genital tubercle, mullerian cavity and potential adult height of the patient); (3) the functional sex (i.e., potential sexuality and fertility); and (4) and the social sex (i.e., the cultural medium in which the child is brought up). The challenge is to outline the future individual identity of the child in the postnatal period using these indicators. Current evolutions of surgical techniques of 'feminisation' and 'masculinisation' are described as well as their outcomes.
Asunto(s)
Trastornos del Desarrollo Sexual/cirugía , Genitales/anomalías , Hiperplasia Suprarrenal Congénita/cirugía , Adulto , Síndrome de Resistencia Androgénica/tratamiento farmacológico , Síndrome de Resistencia Androgénica/cirugía , Niño , Criptorquidismo/cirugía , Femenino , Genitales/cirugía , Disgenesia Gonadal 46 XX/cirugía , Disgenesia Gonadal 46 XY/cirugía , Disgenesia Gonadal Mixta/cirugía , Humanos , Hipospadias/cirugía , Lactante , Recién Nacido , Masculino , Pene/cirugía , Desarrollo Sexual , Uretra/cirugíaRESUMEN
We report our experience with laparoscopic gonadal biopsy and gonadectomy for a girl with a dicentric Y chromosome in mixed gonadal dysgenesis (MGD). A 4-year-old phenotypic girl was referred to our hospital because of slight enlargement of the clitoris. Fluorescence in situ hybridization analysis with Y chromosome-specific probes showed a karyotype with 45,XO/46,X,+idic(Y)(p11.32) and presence of the sex-determining region Y sequence. The pathologic finding by frozen section technique using laparoscopic biopsy specimens during the operation demonstrated a left streak gonad and right testis, and she was diagnosed with MGD. Finally, we performed laparoscopic bilateral gonadectomy. Laparoscopic management is a good approach for patients with sexual development disorders, including MGD because it provides minimally invasive surgery for children and enables all necessary procedures, including evaluation, biopsy, and gonadectomy, for diagnosis and treatment.
Asunto(s)
Disgenesia Gonadal Mixta/patología , Disgenesia Gonadal Mixta/cirugía , Laparoscopía/métodos , Biopsia , Preescolar , Cromosomas Humanos Y , Femenino , Disgenesia Gonadal Mixta/genética , Humanos , Hibridación Fluorescente in Situ , FenotipoRESUMEN
Gonadal dysgenesis is defined by incomplete or defect forming of gonads, a result of disturbed process of migration of germ cells or and their correct organization in gonadal ridge. The combination of dysgenetic gonads and Y chromosome is a prerequisite for developing ovarian neoplasma--most frequent gonadoblastoma. We present a case of mixed gonadal dysgenesis at a patient with caryotype 46XY in combination with gonadoblastoma.
Asunto(s)
Disgenesia Gonadal Mixta/complicaciones , Disgenesia Gonadal Mixta/patología , Gonadoblastoma/complicaciones , Gonadoblastoma/patología , Adulto , Femenino , Disgenesia Gonadal 46 XY/complicaciones , Disgenesia Gonadal 46 XY/genética , Disgenesia Gonadal 46 XY/patología , Disgenesia Gonadal 46 XY/cirugía , Disgenesia Gonadal Mixta/genética , Disgenesia Gonadal Mixta/cirugía , Gonadoblastoma/cirugía , Humanos , Adulto JovenRESUMEN
This is a report of a 13-year-old 45,X/46,XY patient who was assigned as female gender and had feminizing surgery during infancy. Psychological problems became progressively more severe from childhood to incapitation by age 13 years. Gender identity reversal was performed after extensive physiological testing. Because he wanted to have corrective surgery, his external genitalia sex reassignment was made male from female. There were surgical problems with his phalloplasty; after surgery at infancy there was reduction of the phallus with recession of the glans to the typical clitoral location. Genital response during sexual activity and satisfaction after reconstructive surgery for male genitalia are as yet unknown. This patient is a typical example for medical, psychological and surgical dilemmas of sex reassignment and the problems of early corrective surgery. Sufficient brain virilisation associated with undervirilised external genitalia is an important problem for assignment of gender identity.
Asunto(s)
Identidad de Género , Disgenesia Gonadal Mixta/psicología , Disgenesia Gonadal Mixta/cirugía , Adolescente , Femenino , Humanos , Masculino , Procedimientos Quirúrgicos Urogenitales/métodosRESUMEN
We report on a 20-year-old man in whom endocrinological investigation owing to dysmorphic signs characteristic for Turner syndrome revealed mixed gonadal dysgenesis. The patient was referred to us for further diagnostic investigations on a right intrascrotal tumour. Both testes were intrascrotal and hypotrophic with normal testosterone production. Surgical investigation showed a circumscribed tumor that proved to be a rudimentary uterus without evidence of malignancy at histological examination. Biopsies from both tested showed no signs of malignant disease. After removal of the tumor, we decided not to remove the testes prophylactically because of the male phenotype and the sufficient testosterone production.
Asunto(s)
Disgenesia Gonadal Mixta/cirugía , Escroto/cirugía , Útero/anomalías , Adulto , Diagnóstico Diferencial , Femenino , Neoplasias de los Genitales Masculinos/diagnóstico , Disgenesia Gonadal Mixta/patología , Humanos , Masculino , Escroto/patología , Testículo/patologíaRESUMEN
Excision of Mullerian structures in children with disorders of sexual differentiation is an operative challenge. We report our experience with laparoscopic excision of Mullerian structures in a neonate with mixed gonadal dysgenesis. The salient features of the procedure were excellent visualisation and ease of dissection.
Asunto(s)
Disgenesia Gonadal Mixta/cirugía , Laparoscopía/métodos , Conductos Paramesonéfricos/anomalías , Humanos , Recién Nacido , MasculinoRESUMEN
The management of intersex patients is a challenge. Although in the majority of patients the diagnosis may be made on the basis of cytogenetic and biochemical tests, there is a selective group of patients with difficulties in the establishment of final diagnosis and gender assignment. Since laparoscopy has been used in the management of impalpable gonads in the normal male population, it may be an alternative method for the diagnosis and surgical management of intersex patients. Thus we have evaluated our experience with laparoscopy in intersex population. Over the last 10 years (1995-2005) more than 80 intersex patients underwent surgical correction at our department. Out of those, 14 patients with a median age of 3 years (range 2-18 years) underwent laparoscopic surgery. Laparoscopic gonadectomy with subsequent estrogen replacement was performed following gonadal biopsy in five patients with androgen insensitivity syndrome (AIS). In three patients with mixed gonadal dysgenesis (MGD) gonadal biopsy was performed. In two of those the initial diagnosis was changed to true hermaphroditism, and they underwent removal of ovotestis from one side and orchidopexy of the normal testis on the other. In one patient with MGD, timed gonadectomy following laparoscopic biopsy was performed due to malignant potential of the streak gonads. In two patients with persistent müllerian duct syndrome (PMDS), laparoscopic orchidopexy was performed following gonadal biopsy. Three patients with total gonadal dysgenesis (TGD) underwent laparoscopic gonadectomy and one with true hermaphroditism underwent laparoscopic biopsy followed by bilateral inguinal orchiectomy with preservation of the ovarian tissue. Our data show that the laparoscopic gonadal biopsy remains the only way to obtain morphologic gonadal structure and to establish a final diagnosis in doubtful cases. Magnification and easy access to the pelvic cavity allow removal of gonads or ductal structures with the advantages of minimally invasive procedure.
Asunto(s)
Trastornos del Desarrollo Sexual/cirugía , Disgenesia Gonadal Mixta/cirugía , Laparoscopía , Orquiectomía/métodos , Testículo/cirugía , Adolescente , Síndrome de Resistencia Androgénica/cirugía , Niño , Preescolar , Femenino , Humanos , Masculino , Neumoperitoneo Artificial , Cariotipo XYYRESUMEN
PURPOSE: Total urogenital sinus mobilization (TUM) has been advocated as a successful technique in the repair of common urogenital sinus anomalies. To our knowledge the long-term effects on continence, voiding pattern and bowel control have not been published. We present our experience and assessment regarding these issues. MATERIALS AND METHODS: We retrospectively reviewed our experience with TUM. Medical records were reviewed for each patient along with long-term followup by telephone questionnaire and clinical visits. Uroflowmetry was performed in recent patients who were old enough to cooperate in the study. RESULTS: A total of 13 females underwent TUM. Medical records were reviewed for all patients. Patients were divided into 2 groups. Group 1 consisted of 7 patients who underwent surgery before the age of achieving continence, and group 2 consisted of 6 patients who were incontinent before surgery. One patient in group 2 was lost to long-term followup. Two children in group 1 have enuresis, a 27-month-old with day and nighttime enuresis and a 3-year-old with only nocturnal enuresis. All patients in group 2 were continent immediately postoperatively. CONCLUSIONS: TUM preserves urinary continence immediately postoperatively among patients who are continent before surgery. Furthermore, it does not appear to delay the natural development of continence among patients undergoing surgery before the age of toilet training.
Asunto(s)
Hiperplasia Suprarrenal Congénita/cirugía , Trastornos del Desarrollo Sexual/cirugía , Disgenesia Gonadal Mixta/cirugía , Incontinencia Urinaria/prevención & control , Adolescente , Niño , Preescolar , Femenino , Procedimientos Quirúrgicos Ginecológicos/métodos , Humanos , Lactante , Estudios Retrospectivos , Procedimientos Quirúrgicos Urológicos/métodosRESUMEN
AIM: The last decade witnessed the introduction of different modifications and even new techniques for feminizing genitoplasty. The claim was that the classical Hendren's procedure was associated with unsatisfactory results. At the King Khalid University Hospital, the Hendren's operation was the procedure of choice for feminizing genitoplasty. In this report, we describe our experience with a total of fifty-two cases of ambiguous genitalia. We understand that this comes in the midst of growing criticism of the Hendren's procedure. MATERIALS AND METHODS: The medical records of 52 consecutive patients with ambiguous genitalia who underwent feminizing genital reconstruction were reviewed. Forty-five patients (86.5%) had congenital adrenal hyperplasia (CAH), 3 patients had testicular feminization syndrome, 2 patients had mixed gonadal dysgenesis, one patient had vaginal atresia with Kaufman's syndrome and one patient had isolated congenital clitoromegaly. Age at first presentation ranged between 1 day to 15 years. Feminizing genital reconstruction using Hendren's technique was carried out as a single stage procedure in 29 (55.81%) patients and as staged surgery in 23 (44.2%) patients. A total of 50 clitoral operations and 43 vaginoplasties were performed. Follow-up ranged from 6 months to 12 years (mean 3 and 1/2 years). The surgical results were analyzed and complications documented. RESULTS: Reconstruction was completed in 47 (90.2%) patients. Thirty-six (78.2%) patients had a satisfactory genital appearance with normal looking clitoris. Seven patients required revision clitoroplasty. Thirty-six (83.7%) patients had a good size vagina appropriate for age. Seven patients (16.2%) had vaginal stenosis and two had revision vaginoplasty with good results. Postoperative complications included urethral fistula (one patient), meatal stenosis (one patient), and transient neurogenic bladder (one patient). The final cosmetic results were considered excellent in 40 (85.1%), fair in 4 patients, and poor in 3 patients. CONCLUSION: The Hendren's techniques of flap vaginoplasty for low confluence and vaginal pull-through for high confluence offer satisfactory cosmetic and functional results. Long-term follow-up is necessary to ensure social and psychosexual adjustment.
Asunto(s)
Hiperplasia Suprarrenal Congénita/cirugía , Síndrome de Resistencia Androgénica/cirugía , Genitales Femeninos/cirugía , Procedimientos de Cirugía Plástica , Adolescente , Adulto , Niño , Preescolar , Clítoris/cirugía , Femenino , Disgenesia Gonadal Mixta/cirugía , Humanos , Lactante , Masculino , Estudios Retrospectivos , Vagina/cirugíaRESUMEN
The study's objective was to evaluate the results of surgical modalities for children with ambiguous genitalia. The records of 55 patients who were reared as females between 1985 and 2001 were reviewed regarding diagnosis, age at surgery, operative procedures, and outcome. The mean age at surgery was 3.5 years, and the follow-up period averaged 4.1 years with a range of 2 months-17 years. The types of reconstructive surgical techniques were clitorovaginoplasty in 29, staging clitoral surgery and vaginoplasty in seven, clitoroplasty in five, total urogenital mobilization (TUM) in three, vaginal bowel substitution in two, clitoridectomy in one, and gonadectomy in six, and two are waiting for vaginal substitution surgery after gonadectomy. The main complications were vaginal stenosis in four patients. All of the TUM patients had good appearances of their urethral orifice and vagina, all of them were continent, and none of them had urinary tract infections. With our limited experience with the TUM procedure, we feel that it is possible to obtain a better cosmetic and functional result with an easier technique. Among the 10 patients of postpubertal age, none of them had had sexual experience. Eight of the postpubertal patients asked questions about their reproductive status. Patients with an intersex disorder should be informed about their problems, especially about their reproductivity.
Asunto(s)
Trastornos del Desarrollo Sexual/cirugía , Disgenesia Gonadal Mixta/cirugía , Factores de Edad , Actitud Frente a la Salud , Preescolar , Clítoris/cirugía , Constricción Patológica/etiología , Trastornos del Desarrollo Sexual/diagnóstico , Femenino , Fertilidad , Estudios de Seguimiento , Disgenesia Gonadal Mixta/diagnóstico , Gónadas/cirugía , Humanos , Masculino , Complicaciones Posoperatorias , Pubertad/psicología , Procedimientos de Cirugía Plástica , Estudios Retrospectivos , Sexualidad/psicología , Resultado del Tratamiento , Uretra/cirugía , Vagina/cirugía , Enfermedades Vaginales/etiologíaRESUMEN
In the framework of the international project between the paediatric surgery clinics of Kaunas Medical University and Copenhagen University Hospital, 34 patients raised as females were examined and treated. Eighteen patients were affected by androgen insensitivity syndrome, and 16 patients by mixed gonadal dysgenesis. All patients had a Y chromosome, although external genitalia was either typically female or had mixed features of both sexes. The particulars of diagnostics and treatment are discussed, focusing on surgical complications.