Diagnosis by serendipity: A case of mosaic turner syndrome and late onset congenital adrenal hyperplasia

@#Congenital Adrenal Hyperplasia and Turner Syndrome are not very rare diseases. However, their combination may be confounding. Presented here is a case of a 54 year old nulligravid, with primary amenorrhea, short stature, absent breast development, hirsutism, signs of virilization, and clitoromegaly who came in due to hypogastric pain and an enlarging palpable hypogastric mass. Diagnostic procedures and surgical management are discussed.

Androgen Insensitivity Syndrome: A Case Report

Background: Androgen insensitivity syndrome refers to an inability of the body to respond properly to male sex hormones (androgens) produced during pregnancy. This occurs because of a change (mutation) in a gene involved in the production of the protein inside cells that receives the androgen hormone and instructs the cells in how to use it. This is a genetic disorder that makes XY foetuses insensitive (unresponsive) to androgens, they are born looking externally like normal girls and Internally, there is a short blind pouch vagina and no uterus, fallopian tube or ovaries. There are testes in the abdomen or in the inguinal canal. The CAIS is usually detected at puberty when a girl should but does not begin to menstruate. They are at high risk of osteoporosis so should take oestrogen replacement therapy. Case Report: PAIS results in micropenis with hypospadias and gynaecomastia. We report this rare case of 18yr old female patient with primary amenorrhea. Subsequent investigation including karyotyping revealed that the patient is phenotypically female but genotypically male with testes. Gonadectomy was done with proper counselling and patient was put on hormonal replacement replacement therapy.

Swyer syndrome (46, XY complete gonadal dysgenesis): A rare case of primary amenorrhea / Philippine Journal of Obstetrics and Gynecology

@#Swyer syndrome is a type of gonadal dysgenesis wherein a 46,XY karyotype presents with a female phenotype. It is a rare cause of disorder in sexual development that occurs in 1:100,000 births. Local studies are currently limited to few case reports. Sex-determining region on the Y chromosome gene mutation is the root cause of nonfunctional gonads with no hormonal or reproductive potential. They are born with normal female external genitalia but not suspected until puberty when menses do not occur or if secondary sexual characteristics do not develop. This report presents the case of a 23-year-old phenotypically female presenting with primary amenorrhea and hypogastric discomfort. Ultrasound revealed an infantile cervix and uterus with streak left ovarian tissue and a cystic mass on the right pelvic area. Gonadotropin levels were elevated, and the karyotype showed a normal male 46,XY. Laparoscopic bilateral gonadectomy with salpingectomy was done, which revealed dysgerminoma on bilateral ovarian tissues. In conclusion, this report describes a rare case of Swyer syndrome associated with ovarian dysgerminoma. Accurate and prompt diagnosis, using a systematic approach in evaluating primary amenorrhea, is crucial in initiating treatment. Our goal is to ensure hormonal replacement, fertility preservation, psychosexual and emotional stress reduction, and overall patient survival.

MODY11 induced by heterozygous mutations of a novel B lymphocyte kinase / 中华内分泌代谢杂志

To characterize the clinical and molecular features of a patient with maturity-onset diabetes of the young 11(MODY11) and literature review. The patient was a 30-year-old female with hyperglycemia for 2 years. Failure to thrivea, primary amenorrhea, intellectual impairment, and severe hyperlipidemia were present at the same time. A novel mutations of the B lymphocyte kinase gene(BLK) c. 1025C>T(p.A342V) was found in the patient. Literature review revealed that there were more than ten mutation sites in BLK-MODY11. Some of them had hyperglycemia, over weight or systemic lupus erythematosus. To date, the clinical characteristics of the patient, such as growth retardation, primary amenorrhea, and intellectual impairment have not been reported in MODY11. Our clinical report further expands the clinical presentations and variabilities of MODY11.

Piometra secundario a estenosis cervical en una adolescente / Pyometra secondary to cervical stenosis in an adolescent

INTRODUCCIÓN: El piometra es una afección infrecuente, pero grave, que en general se diagnostica en mujeres posmenopáusicas. En adolescentes es sumamente raro, y si se acompaña de amenorrea primaria hay que tener en mente las anomalías congénitas. CASO CLÍNICO: Adolescente de 13 años, sin antecedentes personales de interés salvo amenorrea primaria, que acude con abdomen agudo y es intervenida por una peritonitis difusa causada por un piometra secundario a disgenesia (estenosis) cervical congénita. Se realizó dilatación cervical y se dejó una sonda vesical intrauterina para prevenir la reestenosis. CONCLUSIONES: Un diagnóstico precoz y un tratamiento conservador con dilatación cervical y colocación temporal de un catéter urinario son esenciales para un manejo seguro y efectivo de la estenosis cervical en adolescentes.

INTRODUCTION: Pyometra is an uncommon but serious condition that is generally diagnosed in postmenopausal women. In adolescents it is extremely rare; if accompanied by primary amenorrhea, consider congenital abnormalities. CASE REPORT: A 13-year-old adolescent, with no relevant personal history except primary amenorrhea, who presented with an acute abdomen and was operated on for diffuse peritonitis caused by pyometra secondary to congenital cervical dysgenesis (stenosis). Cervical dilation was performed and a urinary catheter was temporarily placed inside the uterus to prevent restenosis. CONLUSIONS: An early diagnosis and conservative treatment with cervical dilation and temporary placement of a urinary catheter are essential for the safe and effective management of cervical stenosis in adolescents.

Complete Androgen Insensitivity in two Filipino siblings: A case report

@#Androgen insensitivity syndrome is an X-linked recessive condition resulting in a failure of normal masculinization of the external genitalia in a chromosomally male individual. We describe two phenotypically female siblings aged 27 and 18 years, who presented with primary amenorrhea. The older sibling first consulted because of her desire to be pregnant while her younger sibling consulted upon the physician’s advice. Clinical presentation, physical examination, hormonal and imaging studies and a male (46XY) karyotype confirmed the diagnosis of Complete Androgen Insensitivity Syndrome (AIS) in both individuals. Both of them underwent exploratory laparotomy with histopathology confirming presence of immature testicular tissue. Hormone replacement therapy was then started. Both were advised to undergo psychosocial counseling and both chose to be women. This case report is significant since there are only a few local case reports about siblings presenting with this condition.

Mayer Rokitansky Kuster Hauser Syndrome with Concomitant Turner Syndrome Presented with Primary Amenorrhea in an 18 Year Old Woman: A Case Report

@#<p>Primary amenorrhea is a symptom caused by different rare pathologic conditions. It is commonly seen during adolescence due to the absence of menses during this period. Presented here is a rare case of primary amenorrhea in an 18 year old girl with delayed pubertal growth and short stature which on series of investigations revealed hypergonadotropic hypogonadism, absence of the uterus and non-visualized bilateral ovaries on MRI. Karyotyping showed 45,X0. The coexistence of MRKH and gonadal dysgenesis was considered in this case and has been reported in only a few studies up to this date. Its association is uncommon, hence, a multidisciplinary approach is warranted for the management of her case. Further implications on menses and future fertility options are the main considerations, affecting the quality of life.</p>

Síndrome de insensibilidad a andrógenos: revisión bibliográfica a propósito de 5 casos / Androgen insensitivity syndrome: literature review about 5 cases

El síndrome de insensibilidad a andrógenos (AIS en la sigla inglesa) es una entidad muy poco frecuente en endocrinología. Se caracteriza por la mutación del receptor de andrógenos de magnitud variable, por medio del cual individuos 46,XY no se virilizan normalmente, a pesar de conservar sus testículos y tener concentraciones de testosterona en rango masculino. El cuadro clínico es variable y depende la profundidad de la alteración del receptor. En un extremo, hay casos de insensibilidad androgénica completa (CAIS) con fenotipo femenino. En el otro extremo hay insensibilidad parcial (PAIS) que se extiende desde el fenotipo femenino, con o sin ambigüedad genital, hasta los casos de hombres infértiles o con subvirilización, que presentan insensibilidad androgénica más leve. En los fenotipos femeninos, los testículos suelen estar en posición ectópica y aquellos ubicados dentro del abdomen tienen riesgo de malignizarse, por lo que suelen extirparse. Estos son los casos de más difícil manejo, pues aparte de la necesidad de gonadectomía seguida de terapia hormonal femenina, existe una vagina estrecha y en fondo de saco ciego y que suele requerir corrección quirúrgica para permitir la actividad sexual. En este trabajo presentamos 5 casos de AIS vistos recientemente en 2 centros clínicos de Santiago y que ilustran la heterogeneidad de presentación. Además, hacemos una revisión actualizada de los criterios diagnósticos, los tratamientos más adecuados y el manejo global de esta condición.

The Androgen insensitivity syndrome (AIS, in its English acronym) is a very rare entity in endocrinology. It is characterized by a variable magnitude androgen receptor mutation, whereby 46, XY individuals are not normally virilized, despite retaining their testicles and having testosterone concentrations in the male range. The clinical picture is variable and depends on the depth of the receptor alteration. At one extreme, there are cases of complete androgenic insensitivity (CAIS) with a female phenotype. At the other extreme, there is partial insensitivity (PAIS) that extends from the female phenotype, with or without genital ambiguity, to cases of infertile or undervirilized men, who have milder androgenic insensitivity. In female phenotypes, the testes are usually in an ectopic position and those located within the abdomen are at risk of malignancy, and therefore are usually removed. These are the most difficult cases to manage because apart from the need for gonadectomy followed by female hormonal therapy, there is a narrow vagina and a deep blind pouch that usually requires surgical correction to allow sexual activity. In this work, we present 5 cases of AIS recently seen in 2 clinical centers in Santiago and that illustrate the heterogeneity of presentation. In addition, we make an updated review of the diagnostic criteria, the most appropriate treatments, and the overall management of this condition.

Study and clinical evaluation of 25 cases of primary amenorrhea

Background: Primary amenorrhea is absence of menstruation and secondary sexual characters by age of 14 years primary amenorrhea is < 1%. Development of female genital organs takes place from mullerian DUCT (paramesonephric duct). The objective of this study was to note the various causes, complete clinical picture and the management in 25 such cases of primary amenorrhea.Methods: This is a prospective study done in 25 cases. They were investigated, managed and patients were called up for follow up for their response to treatment.Results: Out of 25 cases studied, maximum cases presented at 14-16 years of age, with chief complaint of primary amenorrhea, out of which 8% were married, 44% cases were of MRKH syndrome which was the most common cause of primary amenorrhea.Conclusions: Amenorrhea has got multi factorial etiology. For patients with amenorrhea physical examination should focus on pubertal development and possible genital out flow obstruction.

Reproductive potential in a case of Mosaic Turners syndrome with 46XY karyotype

This article describes a case of 18year-old-female who presented with primary amenorrhea, phenotypic features of Turners syndrome, which was confirmed later by Karyotype to have mosaic 45XO(8)/46XY(22). She had delayed puberty and proved (hormonally) to have ovarian failure, with absent Mullerian structures (radiologically and laparoscopy).

Mayer-Rokitansky-Küster-Hauser syndrome

@#Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome is a rare disease found in 1 :4,000-5,000 live female births. It presents with vaginal and uterine agenesis in females. Ultrasound of the pelvis is the initial imaging of choice. Pelvic Magnetic Resonance Imaging (MRI) is the gold standard to confirm the presence of a rudimentary uterus. Surgical and nonsurgical options to create a neovagina may be offered to the patient. Counselling of patients is necessary. This report presents a case of a 1 5-year old phenotypic female with cyclic abdominal pain subsequently noted with absent vaginal canal. Ultrasound and MRI of the pelvis showed the absence of a uterus and upper vagina with intact ovaries. Karyotyping showed 46, XX, confirming that the patient is a female. Analgesics were prescribed for the abdominal pain. Regular counselling was provided by Adolescent Medicine.

Adenomyosis in Mayer-Rokitansky-Kuster-Hauser Syndrome / Philippine Journal of Obstetrics and Gynecology

@#Mayer-Rokitansky-Kuster-Hauser syndrome, the second most common cause of primary amenorrhea, is a congenital anomaly caused by defective Mullerian duct development. It is the absence of uterus, cervix and upper two thirds of the vagina that results in primary amenorrhea. This is a case of a 42-year-old, nulligravid with primary amenorrhea complaining of acute abdominal pain. She has no co-morbidities or previous surgeries. Examination revealed an absent cervix and a left adnexal mass. Ultrasonography revealed an atrophic uterus with no endometrial stripe and cervix, with possible ovarian tumor versus myoma. Impression was mullerian agenesis with pelvoabdominal mass in torsion. She then underwent total abdominal hysterectomy with bilateral salpingectomy and adhesiolysis. Intraoperatively, there were two hemiuteri connected by a fibromuscular stalk. Left hemiuterus was dextrorotated, adherent to the sigmoid mesentery and peritoneum. Histopathology confirmed absence of endometrial cavity but with adenomyosis in bilateral uterine buds. Chromosomal analysis confirmed 46, XX karyotype.

Isochromosome Mosaic Turner Syndrome: A case report / Journal of the ASEAN Federation of Endocrine Societies

@#Turner syndrome (TS) with an isochromosome mosaic karyotype 45,X/46,X,i(X) (q10) is an unusual variant, with only an 8-9% prevalence among women with TS based on international studies and 15% of all TS in the Philippines. Clinical features are atypical and any case should be investigated to detect potential complications.A 20-year-old female came in due to amenorrhea and alopecia. Physical examination revealed short stature, cubitus valgus and Tanner Stage 1 pubic hair and breast development. Transrectal ultrasound revealed absent ovaries and infantile uterus. Hormonal evaluation revealed hypergonadotropic hypogonadism. Bone aging was that of a 13-year-old for females with non-fusion of epiphyseal plates. Cytogenetic study revealed 45,X [37]/46, X, i (X) (q10)[13]. This is consistent with a variant Isochromosome Mosaic Turner Syndrome (IMTS). She was screened for medical complications. Audiogram and two-dimensional echocardiography were unremarkable. She has dyslipidemia and was given a statin. She has subclinical hypothyroidism with positive test for anti-thyroglobulin antibody. Her intelligence quotient (IQ) was below average. She received conjugated estrogen and progesterone that patterned the hormonal changes in a normal menstrual cycle. On the third week of hormonal therapy, she developed breast mound and on the fourth week, she had her first menstrual period. Her alopecia spontaneously resolved. The case is a variant of Turner Syndrome requiring supportive, medical and psychological care

Evaluation and management of amenorrhea related to congenital sex hormonal disorders

Primary amenorrhea is a symptom with a substantial list of underlying etiologies which presents in adolescence, although some conditions are diagnosed in childhood. Primary amenorrhea is defined as not having menarche until 15 years of age (or 13 years with secondary sex characteristics). Various etiologies of primary amenorrhea include outflow tract obstructions, gonadal dysgenesis, abnormalities of the central nervous system, various endocrine diseases, chronic illnesses, psychologic problems, and constitutional delay of puberty. The management of primary amenorrhea may vary considerably depending on the patient and the specific diagnosis. In this article, the various causes, evaluation, and management of primary amenorrhea are reviewed with special emphasis on congenital sex hormonal disorders.

Disgenesia gonadal mixta: un caso de síndrome de Turner en mosaicismo 45,X/47,XYY / Mixed gonadal dysgenesis, a case of Turner syndrome in mosaicism 45,X/47,XYY

Resumen ANTECEDENTES: Alrededor de 45% de los pacientes con síndrome de Turner tienen línea monosómica 45,X. La existencia del cromosoma Y en mosaicos corresponde a 2-5% de los casos. La severidad del fenotipo se relaciona con el porcentaje y distribución de las células normales, inclusive se estima que 90% de las presentaciones en mosaico podrían no llegar a tener diagnóstico. OBJETIVO: Reportar un caso atípico de una adulta joven con síndrome de Turner en mosaico 45,X/47,XYY. CASO CLÍNICO: Paciente de 27 años de edad, que acudió a consulta al Hospital Universitario de Santander, Colombia, debido al antecedente de amenorrea primaria, apariencia femenina normal, talla y peso promedio para la población colombiana, mamas Tanner 3 y genitales externos Tanner 5. La resonancia magnética nuclear reportó: hipoplasia uterina y ovarios atróficos. El cariotipo de alta resolución diagnóstica fue de síndrome Turner en mosaico 45,X[60%]/47,XYY [40%]. CONCLUSIÓN: En mujeres con amenorrea primaria y talla baja debe sospecharse el síndrome de Turner. En virtud de la variedad fenotípica, las condiciones en mosaico pueden retrasar el diagnóstico hasta la adultez. Incluso 90% de los mosaicos pueden no diagnosticarse.

Abstract BACKGROUND: Approximately 45% of patients with Turner syndrome have monosomic line 45, X. The existence of the Y chromosome in mosaics corresponds to 2 to 5% of the cases, the severity of the phenotype is related to the percentage and distribution of normal cells, it is even estimated that 90% of mosaic presentations may not have diagnosis. OBJECTIVE: To present an atypical case of a young adult with Turner syndrome in mosaic 45,X / 47,XYY CLINICAL CASE: A 27-year-old woman visits the University Hospital of Santander for a history of primary amenorrhea, normal female appearance, average height and weight for Colombian population, Tanner 3 breasts and external genitalia Tanner 5. Magnetic resonance imaging reports uterine hypoplasia, ovaries and discards a pituitary tumor. High-resolution karyotype diagnoses Turner mosaic syndrome 45,X [60%] / 47,XYY [40%]. CONCLUSION: Turner's syndrome should be suspected in women with primary amenorrhea and low stature, however, mosaic conditions may delay their diagnosis until adulthood due to their phenotypic variety, up to 90% of the mosaics can reach no have diagnosis.

A second glance on Cervicovaginal Agenesis

@#Mullerian anomalies arise from the failure in the development of Mullerian ducts and their associated structures during organogenesis which confers adverse impact in fertility and reproductive health. Presented is a rare case of a 15 year old nulligravid, who presented with a chief complaint of severe cyclic hypogastric pain associated with primary amenorrhea. Complete clinical history, physical examination and sonographic findings pointed to a diagnosis of cervical hypoplasia associated with functioning uterine corpus and an absent vagina. Patient underwent total abdominal hysterectomy with left salpingectomy and bilateral oophorocystectomy, for hematometra, bilateral endometriotic cysts, and hematosalpinx. This case report discusses the management of cervicovaginal agenesis through a multidisciplinary approach by a team composed of an obstetrician-gynecologist, reproductive endocrinologist, pediatrician, and pediatric surgeon for proper evaluation, diagnosis, and management of this case.

Mutation analysis of NANOS3 in Brazilian women with primary ovarian failure

OBJECTIVES: Primary ovarian failure is a rare disorder, and approximately 90% of cases are of unknown etiology. The aim of this study was to search for mutations in NANOS3, a gene that was recently related to the etiology of primary ovarian failure, in a group of Brazilian women. METHODS: We screened for NANOS3 DNA variants in 30 consecutive women who were previously diagnosed with primary ovarian failure, of unknown etiology and compared the results with those from 185 women with normal fertility. The NANOS3 gene was amplified by polymerase chain reaction using pairs of specific primers and then sequenced. The resulting sequences were compared with control sequences available in the National Center for Biotechnology and Information database. RESULTS: No mutations in NANOS3 were found in primary ovarian failure patients, but four previously described polymorphisms were identified at a similar frequency in the control and primary ovarian failure groups. CONCLUSIONS: Mutations in NANOS3 were not associated with primary ovarian failure in the present cohort.

Trastornos de diferenciación sexual

Objetivo: Presentar la clínica, citogenética y hallazgos histopatológicos en pacientes adultas, que consultaron a la Unidad de Endocrinología Ginecológica del Hospital Universitario de Caracas con trastornos de la diferenciación sexual. Se reportan cuatro casos clínicos: dos casos con trastorno de la diferenciación sexual 46, XY por alteración en la acción de los andrógenos anteriormente denominado insensibilidad androgénica parcial, una paciente con trastorno de la diferenciación sexual 46, XX y otra con trastorno de la diferenciación sexual 46, XY ovotesticular sin gonadoblastoma por síndrome de Frasier. Es importante realizar un diagnóstico temprano para su tratamiento precoz, por la trascendencia que la definición del sexo tiene para el futuro del individuo. Conclusiones: A pesar de los avances alcanzados a lo largo de los últimos 20 años, algunos casos quedan aún sin diagnóstico etiológico definido, sea por falta de estudio molecular o genes aún no conocidos. Su abordaje diagnóstico y terapéutico es complejo, requiere de un equipo multidiscplinario integrado por ginecólogos, endocrinólogos, psiquiatras, urólogos, cirujanos plásticos.

The aim of this paper is to present the clinical, cytogenetic and histopathological findings in adult patients who consulted the Gynecological Endocrinology Unit of the University Hospital of Caracas with Disorders of sexual development. Four clinical cases reported: Two with Disorder of sexual development 46, XY due defect in androgen action previously called partial androgen insensitivity, one patient with disorders of sexual development 46, XX and another with disorder of sexual development 46, XY ovotesticular without gonadoblastoma by Frasier syndrome. It is important an early diagnosis and treatment to define the sex for the individual’s future. Conclusion: Despite the progress made over the last 20 years, some cases are still without etiologic diagnosis, either through lack of molecular study or yet unknown genes. Its diagnostic and therapeutic approach is complex, requiring a team of gynecologists, endocrinologists, psychiatrists, urologists, plastic surgeons.

Amenorrea primaria: experiencia de la Unidad de Endocrinología Ginecológica del Hospital Universitario de Caracas (Revisión de la literatura)

Objetivo: Establecer la prevalencia de amenorrea primaria en la consulta de Endocrinología Ginecológica del Hospital Universitario de Caracas y las entidades nosológicas involucradas. Métodos: Estudio retrospectivo y descriptivo de las historias clínicas de las pacientes que consultaron por amenorrea primaria durante el período 2013 a 2015, quienes fueron categorizadas retrospectivamente en 4 grupos según el algoritmo diagnóstico de Mashchak. Resultados: El 6,48 % (46 / 710 pacientes) fueron casos de amenorrea primaria. La etiología comprendió: hipogonadismo-hipergonadotrópico (46,47 % / 7 casos), hipogonadismo-hipogonadotrópico (33,34% / 5 casos), síndrome de Rokitansky (6,67 % / 1 caso), defecto de acción de andrógeno (6, 67 % / 1 caso) y trastorno 46, XY ovotesticular (6,67 % / 1 caso). Conclusiones: La amenorrea primaria representa un motivo de consulta poco frecuente, pero la diversidad y complejidad de las patologías que la producen, ameritan el uso de esquemas que permitan un diagnóstico sencillo, el uso del algoritmo propuesto por Mashchak nos permitió un diagnóstico eficiente de los casos. La diversidad de estas patologías amerita un equipo multidisciplinario para un manejo adecuado.

Objectives: To establish the prevalence of primary amenorrhea in Gynecological Endocrinologic Unit of Hospital Universitario de Caracas; and the etiology involved. Method: Retrospective and descriptive study of medical records of patients who consulted for primary amenorrhea, during the period 2013-2015. Were retrospectively categorized into 4 groups according Mashchak algoritm. Results: 6.48 % (46/710 patients) were cases of primary amenorrhea. The etiology includeded: hypogonadism hypergonadotropic (46.47 %/7 cases), hypogonadotropic hypogonadism (33.34 % / 5 cases), Rokitansky syndrome (6,67 % / 1 case), defect in androgen action (6. 67 % / 1 case), disorder 46, XY ovotesticular (6.67 % / 1 case). Conclusions: With a wide diversity and complexity of pathologies that produce primary amenorrhea, it requires the use of diagnostic categories based on physical examination and a minimal laboratory investigation that allow a simple diagnosis. In this sense, using the algoritm proposed by Mashchak allowed us to efficiently diagnose the aforementioned cases. The diversity of these diseases requires the inclusion of a multidisciplinary team in orden to achieve a proper management.

Trastorno del desarrollo sexual 46, XY tipo ovotesticular por síndrome de Frasier: Caso clínico

Objetivo: Se presenta el caso clínico de una paciente femenina de 27 años con enfermedad renal crónica estadio V a los 19 años, en condición pos trasplante renal quien es referida a la consulta de Endocrinología por amenorrea primaria. Presentación del caso: Al examen físico se evidencia: fenotipo femenino armónico, talla normal, vello púbico Tanner IV y axilar presente, mamas Tanner I, cardiopulmonar: sin alteraciones. Abdomen: lesión ocupante de espacio en fosa ilíaca derecha, no doloroso, compatible con riñón intrapélvico y lesión ocupante de espacio en canal inguinal derecho <1cm, no doloroso, móvil, sin hernias inguinales ni lesión ocupante de espacio en hipogastrio. Genitales externos: labios mayores de aspecto y configuración normal, Prader 1, no se palpan tumoraciones. Ecosonograma inguinal y pélvico: Riñón intrapélvico, no se observó útero ni gónadas. Cariotipo 46,XY. Estudio genético: Amplificación por PCR del ADN del gen WT1: sustitución de aminoácido C> T IVS9 + 4. Se realiza gonadectomía bilateral, cuya biopsia reportó: ovotestis bilateral sin gonadoblastoma. Conclusiones: La presencia de trastornos de la diferenciación sexual tipo ovotesticular sin gonadoblastoma, es el primer caso reportado en la literatura venezolana.

Objective: Case report of female patient 27 years old, with stage V chronic kidney disease, and received a living donor kidney transplant at 19 age, who is referred to Endocrine Unit for primary amenorrhea. Case report: Physical examination evidenced: Harmonic female phenotype, normal height, Tanner IV pubic hair and axillary hair present, breast Tanner I, cardiopulmonary: unchanged. Abdomen: Space-occupying lesion in the right iliac fossa, painless, compatible with intrapelvic kidney and space-occupying lesion in the right inguinal canal <1 cm, painless, mobile, without inguinal hernia or space-occupying lesion in lower abdomen. External genitalia: Majora labia with appearance and normal configuration, Prader 1, no palpable tumors. Inguinal and pelvic sonography: intrapelvic kidney, uterus and gonads were not observed. 46, XY karyotype. Genetic study: PCR Amplification DNA of WT1 gene: Amino acid substitution C> T + 4. IVS9. Bilateral gonadectomy was performed, the biopsy reported: Bilateral ovotestis without gonadoblastoma. Conclusion: The presence of disorder of sexual development and ovotestis without gonadoblastoma and germ cell tumor are unusual presentations of this syndrome, is the first case reported in literature.