Abordaje del recién nacido con alteraciones del desarrollo sexual / Newborn approach with disorders of sexual development

Resumen Introducción: Las alteraciones del desarrollo sexual en el recién nacido no es una condición infrecuente durante la práctica médica pero sí resulta ser un reto tanto en el abordaje diagnostico como en el terapéutico. Se definen como el conjunto de condiciones en donde el desarrollo del sexo cromosómico, gonadal o anatómico es atípico. Objetivos: Realizar un abordaje integral de las alteraciones del desarrollo sexual y reconocer la importancia de los equipos transdisciplinarios para el manejo de esta patología. Metodología: Se realizó una búsqueda de la literatura con las palabras clave Disorders of sex development, Ovotesticular disorders of sex development, True Hermaphroditism, Gonadal dysgenesis, Adrenal hyperplasia, congenital en cinco bases de datos bibliográficas, se limitó la búsqueda para artículos en idioma español o inglés de los últimos 10 años. Resultados: Se obtuvieron110 artículos de los cuales 36 fueron incluidos en esta revisión, los artículos revisados eran artículos originales, presentación de casos, consensos y artículos de revisión. Conclusiones: La sensibilización al personal de salud sobre esta condición es fundamental para realizar un diagnóstico y tratamiento oportuno, con el objetivo de evitar complicaciones en la salud del recién nacido. La asignación del sexo es uno de los problemas más relevantes para el manejo de esta patología; esta decisión deberá ser tomada por el equipo transdisciplinario de especialistas con experiencia en el tema en donde se realice una evaluación detallada e individual de cada caso.

Abstract Introduction: Disorder of sexual development in newborn is not an infrequent condition during medical practice, but it does prove to be a challenge both in diagnostic and in therapeutic approaches. It is defined as the set of conditions in which the development of chromosomal, gonadal or anatomical sex is atypical. Objectives: To carry out a comprehensive approach to sexual development alterations and to recognize the importance of transdisciplinary teams for the management of this pathology. Methodology: A search of review literature was made with the key words Disorders of sex development, Ovotesticular disorders of sex development, true hermaphroditism, gonadal dysgenesis, and congenital adrenal hyperplasia in five biomedical databases. The search has been limited to Spanish or English language articles of the last 10 years. Results: 110 articles were reviewed, of which 36 were included, they were original articles, case presentations, consensus and review articles. Conclusions: In order to avoid complications in newborn, health personnel should be sensitized, regarding this condition is essential to timely diagnosis and treatment. Assignment of sex is one of the most relevant problems for the management of this condition; this decision must be made by a transdisciplinary team of specialists with experience in the subject where a detailed and individual evaluation of each case is carried out.

Perioperative nursing of 6 patients with true hermaphroditism / 现代临床护理

Objective To explore the perioperative nursing points of 6 patients with true hermaphroditism. Method Six patients with true hermaphroditism from September 2009 to February 2014 were treated with surgeries , with perioperative nursing performed. Result All the operations were successful without serious complications and the wounds were on primary healing. Conclusions Perioperative nursing interventions over the patients with true hermaphroditism can alleviate role conflicts and help them overcome the psychological obstacles. Postoperative nursing including careful care to the perineum incisions and artificial vaginas, and health instruction can ensures postoperative rehabilitation.

Hermafroditismo verdadeiro: relato de caso / True hermaphroditism: case report

Objetivo: relatar o acompanhamento multidisciplinar de um caso de hermafroditismo verdadeiro HV,diagnosticado na Fundação Santa Casa de Misericórdia do Pará. Relato de caso: paciente nascido em2000, apresentando ao exame físico falus de 1,5cm de comprimento, bolsa escrotal bífida,transposição penioescrotal, sinus urogenital, gônada esquerda canalicular distal com 1cm de diâmetro,móvel e de consistência fibroelástica, e não palpável à direita, sem demais alterações. A investigaçãodiagnóstica seguiu com realização de cariótipo [46 XY ? 90%; 45 Xr (?Y) ? 6%; 45 X ? 4%]; examesendocrinológicos; ultrassonografia e genitografia. Foi submetido à laparotomia exploradora, comidentificação de útero rudimentar, tubas uterinas bilateralmente, gônada direita na cavidade de aspectoarredondado e gônada esquerda penetrando no anel inguinal profundo. Biópsia de congelação teveresultado inconclusivo, mas após revisão diagnosticou ovotéstis bilateralmente e presença de tecidoepididimário e tuba ovariana. Assim, o diagnóstico de HV foi estabelecido. Foi realizada novalaparotomia exploradora, histerectomia total, salpingectomia com gonadectomia direita, gonadectomiaesquerda por via escrotal e vaginectomia. Em 2009, foi realizado o primeiro tempo da correção dehispospádia perineal. Considerações finais: diferente do que acontece na maioria dos casos, o casorelatado tem cariótipo em mosaico, acompanhado de ambigüidade genital, o que possibilitouinvestigação precoce, visto que o tratamento tardio na maioria das vezes se justifica pela falta dealteração na genitália externa. O acompanhamento multidisciplinar foi determinante para a conduçãodo caso.

Objective: to report the multidisciplinary follow-up of a diagnosed case of true hermaphroditism inthe Santa Casa de Misericórdia do Pará. Final Considerations: unlike what happens in most cases,the reported case is a mosaic kariotype, with ambiguous genitalia, which allowed an earlyinvestigation, since the late treatment is most often justified by the lack of change in the externalgenitalia. The follow-up was crucial to the conduct of the case.

True hermaphroditism presenting as an inguinal hernia

A 21-year-old patient with cryptorchidism was found to have a left inguinal mass on physical examination. The patient was operated with a diagnosis of bilateral cryptorchidism and left inguinal hernia. Besides bilateral inguinal undescended testicles, female genital organs like fallopian tubes, uterus and ovary were found on the exploration.

Mixed Gonadal Dysgenesis Mimicking True Hermaphroditism

A differential diagnosis between the true hermaphroditism (TH) and mixed gonadal dysgenesis (MGD) has important clinical implications for gender assignment and the decision for early gonadectomy; however, variable clinical and histological features frequently lead to the confusion of TH with MGD. A 17- month-old boy was presented with proximal hypospadias with chordee and right non-palpable testis in his scrotum. He also had right auricular anomaly including a separated tragus with skin tag. Left testis was well palpable in his left scrotum. Diagnostic right inguinal exploration showed Mullerian structures such as a gonad like an ovary and a fallopian tube with a uterus, which were removed. Repair of hypospadias and right auricular anomaly was also done. Following ultrasonography (USG) showed a normal looking testis in left scrotum. His chromosome was 45, XO/46, XY. We report a difficult case of mixed gonadal dysgenesis mimicking true hermaphroditism which combines ipsilateral congenital auricular anomaly.

Clinical Review of the Etiologic Factors in Patients with Aambiguous Genitalia / 대한산부인과학회잡지

OBJECTIVE: To review and evaluate the etiologic factors in patients with ambiguous genitalia METHODS: We reviewed the medical records of the patients in whom ambiguous genitalia was identified in Asan Medical Center from Jan, 1989 to Dec, 2002. Patients with isolated cryptorchidism, isolated hypospadias, or congenital fatal anomalies involving multiple organs were excluded in our series. RESULTS: A total of 58 cases were evaluated. The most common cause was congenital adrenal hyperplasia (CAH) (18 cases, 31.0%), followed by partial androgen insensitivity syndrome (AIS) (16 cases, 27.6%), true hermaphroditism (9 cases, 15.5%), and mixed gonadal dysgenesis (5 cases, 8.6%). Morphologic abnormalities observed in patients with ambiguous genitalia were hypospadias (52.5%), clitoromegaly (47.5%), palpable gonads (45.8%), bifid scrotum (23.7%), penoscrotal transposition (22%), cryptorchidism (18.6%), vaginal wall abnormality (10.2%), and M llerian remnant (3.4%). By karyotyping, 46XX, 46XY, and Y containing mosaicism were found in 24, 22, and 9 patients, respectively. All of the 18 patients with CAH were found to have 21-hydroxylase deficiency and all cases of androgen insensitivity syndrome were partial type. CONCLUSION: These findings suggest that etiologic background might be different in patients with ambiguous genitalia in Korea.

Critical Histopathologic Findings for Differential Diagnosis between True Hermaphroditism and Mixed Gonadal Dysgenesis / 대한비뇨기과학회지

PURPOSE: Differentiation of true hermaphroditism (TH), from mixed gonadal dysgenesis (MGD), in patients presenting with ambiguous genitalia and asymmetric gonad, is mandatory. However, clinical features, including chromosomal, hormonal, biochemical and radiological findings are not helpful in the differential diagnosis between these conditions, so histopathological diagnosis of the gonads is essential. We reviewed the clinicopathological features of TH and MGD to investigate the important histopathological criteria for the differential diagnosis. MATERIALS AND METHODS: The medical records of 38 patients with ambiguous genitalia were retrospectively reviewed. 8 patients had been diagnosed as TH or MGD, so their histological slides were reevaluated. We also studied the normal gonadal histology for the prenatal period in order to get basic knowledge on the histological features of premature testis and ovaries in infancy. RESULTS: To make a clear diagnosis between TH and MGD, the histological features of the ovarian compartment are important. The well-formed primordial, primary or mature follicles, with primary oocytes in TH, were distinguishable from the primitive germ cells in the ovarian-type stroma and primitive sex-cord like structures in MGD. On the contrary, the testicular compartment under both conditions was not critical for the differential diagnosis. A streaky gonadal portion should be examined to avoid missing the diagnosis of a streak-testis. CONCLUSIONS: The differential diagnosis between TH and MGD depends on the interpretation of the histological features of the gonads. For the purpose of a differential diagnosis, we have to understand the normal gonadal histology at the infantile period, and apply strict criteria to the gonads, such as testis, ovary, streak gonad and streak-testis through examination of the entire tissue.

A Case of True Hermaphroditism Masquerading as Testicular Tumor / 대한비뇨기과학회지

True hermaphroditism represents the rarest of all intersex disorders. The condition is defined by the presence of both ovarian and testicular tissue in the same individual. True hermaphroditism is usually diagnosed during the newborn period in the course of evaluating ambiguous genitalia. We present an unusual case of a 15-year-old boy with phenotypically normal male genitalia and bilaterally descended ovotestis, who was seen for evalution of intermittent scrotal swelling and pain.

A case of true hermaphroditism with 46, XX/47, XXX karyotype / 대한비뇨기과학회지

True hermaphroditism is characterized by the coexistence of testicular and ovarian tissue. Authors experienced a case of true hermaphroditism which was confirmed an ovary in the left abdomen and testis in the right scrotum with a karyotype of 46, XX,47, XXY and report this case with the brief review of literatures.

True hermaphroditism: female internal genital organs in the scrotum / 대한비뇨기과학회지

True hermaphroditism is a condition in which both an ovary and a testis or a gonad with histological features of both (ovotestis) is present in same individual. We present a case of 16-year-old true hermaphroditism who had an ovotestis on both gonad and female internal organs, such as fimbria. fallopian tube, uterus in the left scrotum after bilateral scrotal exploration. The patient's sex was reassigned to the male according to sex of rearing and gender role and managed with removal of ovotestis and female internal organs, bilateral subcutaneous mastectomy.

A Case of True Hermaphroditism / 대한비뇨기과학회지

True hermaphroditism is a rare disorder or sexual development in which both ovarian and testicular tissue exist in a same individual. Author experienced a case of true hermaphroditism in a 15 years old patient, reared as a male who had an ovotestis in the right side and ovary in the left, managed by resection of testicular tissue and feminine genitoplasty.

True Hermaphroditism / 대한비뇨기과학회지

True hermaphroditism is one of the rare congenital anomalies. Additional four cases of this anomaly are added to the 2 cases which were reported previously from the Dept. of Urology, Busan National University Hospital. Clinical review was performed about these 6 cases. The results were as follows; 1. The incidence of true hermaphroditism is 0.17% in 3,456 uro1ogicaladnrissions from Jan. 1964 to Mar. 1982, 1.6% in 380 admissions with congenital anomalies of the external genitalia and 25% in 24 admissions with hypospadias and cryptorchism during this period. 2. Hypospadias and cryptorchisrn are found in 6 cases, bifid scrotum 3 cases, and labioscrotal folds in 2 cases. Roentgenograms of retrograde urethrography were available in 4 cases and revealed blind vaginal pouch in 3 cases. Among these 3 cases, one had patent fallopian tube at the cephalad end of the pouch. The other one had well developed vagina and the uterus with patent fallopian tube. 3. The genital ducts were developed ipsilaterally in 9 gonads composed of pure testicular or ovarian tissues but developed to those of male pattern in 3 gonads containing the ovarian and testicular tissues. Among these 3 cases two cases did not have the vas deferens. 4. Of 6 gonads containing the testicular tissues, two were in the scrotum, 2 in inguinal and remained 2 were in the peritoneal cavity. Of gonads containing the ovarian tissues, seven were in the peritoneal cavity and one in the retroperitoneum. 5. Sex chromatin was positive in 3 cases, negative in 3 cases. 6. Of 5 cases who had been reared as male, two were assigned to female, one to male and remained 2 were not decided the sex. The other who had been reared as female was assigned to female. 7. The type of true hermaphroditism is lateral in 3 cases (Type I)and unilateral in 3 cases (Type IIIb 2 cases, Type IIIa I case)by the classification of Jones and Scott.

A Case of True Hermaphroditism / 대한비뇨기과학회지

True hermaphroditism is very rare disease. It is defined as a condition in which both ovary and testis, or an ovotestis, are present in same patient. Recently authors have experienced a case of true hermaphroditism, which was confirmed bilateral ovotestis, in 5 years old child. The sex reassigned to male with concerning of sex of rearing and gender role.

A Study of Intersex

Intersex is the state of having ambiguous or inappropriate genitalia due to abnormalities of normal mechanisms for sexual development. Three broad subcategories of intersex have been defined according to the histology of the gonad: Female & male pseudohermaphroditism and true hermaphroditism. Twenty two cases of intersex are described. Among them, true hermaphroditism was 7 cas-es, female pseudohermaphroditism 10 cases and male pseudohermaphroditism 5 cases. The presenting symptoms, age of diagnosis, gender role, histologic findings of gonad & tre-atment are discussed. Review of literature and reference on intersex was attempted briefly.