Carcinoma corticosuprarrenal virilizante en un niño / Virilizing adrenocortical carcinoma in a child

Introducción: Los tumores suprarrenales en niños son poco frecuentes y el carcinoma suprarrenal representa menos de un 10 %. En el prepúber, la manifestación más típica es el desarrollo de pubertad precoz. Objetivo: Describir las características clínicas, los procederes diagnósticos y terapéuticos de un paciente con carcinoma adrenal en edad pediátrica. Presentación de caso: Paciente de 8 años, masculino y de piel blanca con antecedentes de salud. Acude a la consulta por crecimiento de vello pubiano y aumento del pene en longitud y grosor de aproximadamente 2 años de evolución. En el examen físico se constatan aumento de la velocidad de crecimiento y signos sugestivos de virilización (voz gruesa, vello axilar, vello sexual púbico y genitales externos estadio III de Tanner). Se realizaron estudios hormonales que corroboraron el hiperandrogenismo por secreción endógena autónoma, con niveles de gonadotropinas suprimidas, niveles de testosterona y dehidroepiandrosterona elevados. También se realizaron estudios imagenológicos que evidenciaron edad ósea acelerada y la existencia de un tumor. Se realizó una adrenalectomía izquierda y se confirmó por anatomía patológica el carcinoma corticosuprarrenal virilizante izquierdo en estadío 2. Inició un tratamiento con quimioterapia por dicho diagnóstico y actualmente se mantiene en seguimiento. Conclusiones: Los carcinomas corticosuprarrenales en niños son mayoritariamente funcionantes y constituyen una de las causas de pubertad precoz periférica. Estos son infrecuentes y agresivos, por lo que la realización de estudios genéticos en familias con síndromes hereditarios contribuiría a su diagnóstico precoz para un adecuado tratamiento y mejor pronóstico(AU)

Introduction: Adrenal tumors in children are rare and adrenal carcinoma represents less than the 10 percent. In the prepubescent, the most typical manifestation is the development of early puberty. Objective: Describe the clinical characteristics and diagnostic and therapeutic procedures of a patient with adrenal carcinoma in a pediatric age. Case presentation: 8-year-old male, white-skinned patient with a history of health conditions. He attentds to the consultation due to pubic hair growth and penis enlargement in length and thickness of approximately 2 years of evolution. Physical examination shows increased growth rate and signs suggestive to virilization (deep voice, axillary hair, pubic sexual hair and external genitalia in Tanner's stage III). Hormonal studies were carried out that corroborated hyperandrogenism by autonomic endogenous secretion, with suppressed gonadotropin levels, elevated testosterone and dehydroepiandrosterone levels. Imaging studies were also performed that showed accelerated bone age and the existence of a tumor. A left adrenalectomy was performed and stage 2 left virilizing adrenocrotical carcinoma was confirmed by pathological anatomy studies. He began chemotherapy treatment for this diagnosis and is currently being followed up. Conclusions: Adrenocortical carcinomas in children are mostly functioning and are one of the causes of peripheral early puberty. These are uncommon and aggressive, so genetic studies in families with hereditary syndromes would contribute to their early diagnosis for adequate treatment and better prognosis(AU)

Carcinoma adrenal virilizante en una adolescente: reporte de caso / Virilizing adrenal carcinoma in an adolescent: case report

Los tumores suprarrenales virilizante son infrecuentes y representan 5-6% de los tumores de esas glándulas1. Pueden secretar diferentes andrógenos como dehidroepiandrosterona sulfato (DHEAS), androstenediona y testosterona. Las características clínicas dependen de la edad de presentación; en niños pueden determinar pubertad precoz y en mujeres en edad fértil ocasionar hirsutismo, amenorrea o ciclos oligomenorreicos y diversos grados de virilización2. Los carcinomas adrenocorticales son tumores raros y la incidencia es aproximadamente uno a dos por millón de habitantes/año3,4. Los exámenes de imagen como la tomografía o la resonancia confirman el origen suprarrenal, valoran la presencia de metástasis y definen la conducta terapéutica5. La presentación inicial en pacientes pediátricos mayoritariamente es con virilización6 y aproximadamente el 50% de los pacientes adultos con carcinoma adrenal tienen un estadio de la enfermedad relativamente avanzado7. El tratamiento de elección es la cirugía y sigue siendo la mejor esperanza para la supervivencia a largo plazo8. El pronóstico habitual para el carcinoma adrenocortical es generalmente malo con una supervivencia global a 5 años de 20 a 25%5 en adultos, pero en niños y adolescentes la supervivencia puede llegar al 100%9. Se presenta el caso de una paciente con fenotipo totalmente masculino con diagnóstico de carcinoma adrenal virilizante que comienza en la infancia y se diagnostica en la adolescencia.

Virilizing adrenal tumors are uncommon and represent 5-6% on tumors of these glands1. They can secrete different androgens such as dehydroepiandrosterone sulfate (DHEAS), androstenedione, and testosterone. Clinical features depend on the age of presentation; in children they can determine precocious puberty and in women of childbearing age cause hirsutism, amenorrhea or oligomenorrheic cycles and various degrees of virilization2. Diagnosis consists of clinical evidence of hyperandrogenism, accompanied by an increase in androgens in the blood, especially DHEAS, whose origin is mainly adrenal. Adrenocortical carcinomas are rare and the incidence is approximately one to two per million inhabitants/year3,4. Imaging tests such as tomography or resonance confirm the adrenal origin, assess the presence of metastases and define the therapeutic approach5. In initial presentation in most pediatric patients is with virilization6 and approximately 50% adult's patients with adrenal carcinoma have a relatively advanced stage of the disease7. The treatment of choice is surgery and is the best hope for long-term survival. The usual prognosis for adrenocortical carcinoma is generally poor with a 5-year overall survival of 20 to 25%5 in adults, but in children and adolescent's survival can reach 100%9. We present the case of a patient with a totally male phenotype diagnosed with virilizing adrenal carcinoma that begins in childhood and is diagnosed in adolescence.

Suicídio e masculinidades: uma análise por meio do gênero e das sexualidades / Suicidio y masculinidades: un análisis a través del género y de las sexualidades / Suicide and masculinities: an analysis through gender and sexualities

RESUMO. A epidemiologia brasileira do comportamento suicida, no que tange ao gênero, é análoga à maioria dos países no cenário internacional, de acordo com a pesquisa da Organização Mundial de Saúde, envolvendo 172 nações. No Brasil, o número de óbitos por suicídio é de três a quatro vezes maior entre os homens e, além disso, pesquisas revelam que a prevalência de tentativas de autoextermínio pode ser maior na população sexo-diversa masculina. A partir dos dados estatísticos que inferem questões de gênero e de sexualidade relacionadas ao sofrimento psíquico de homens, a presente pesquisa teve como escopo analisar qualitativamente, por meio das teorias das masculinidades, relatos biográficos de homens gays, bissexuais e heterossexuais que já manifestaram o comportamento suicida. O intuito foi dar enfoque nos contextos de sofrimento que levaram os sujeitos às ideações e tentativas de autoextermínio. Ao final, as categorias identificadas apontam para similaridades e distinções nas narrativas de cada grupo de orientação sexual e evidenciam a forma como a não correspondência à masculinidade hegemônica se expressa nas sexualidades estudadas.

RESUMEN La epidemiología brasileña del comportamiento suicida, con respecto al género, es análoga a la mayoría de los países en el escenario internacional, de acuerdo con la investigación de la Organización Mundial de la Salud, con 172 naciones. En Brasil, el número de muertes por suicidio es de tres a cuatro veces mayor entre los hombres y, además, investigaciones revelan que la prevalencia de intentos de suicídio puede ser mayor en la población sexodiversa masculina. Con base en los datos estadísticos que infieren las cuestiones de género y sexualidad relacionadas con el sufrimiento psicológico de los hombres, la presente investigación tuvo como objetivo analizar cualitativamente, a través de las teorías de la masculinidad, los relatos biográficos de hombres homosexuales, bisexuales y heterosexuales que ya manifestaron conductas suicidas. La intención fue centrarse en los contextos de sufrimiento que llevaron a los participantes a ideas e intentos de autodestrucción. Al final, las categorías identificadas señalan similitudes y distinciones en las narrativas de cada grupo de orientación sexual y muestran cómo la falta de correspondencia con la masculinidad hegemónica se expresa en las sexualidades estudiadas.

ABSTRACT. The Brazilian suicidal behavior epidemiology, in what concerns to gender, is analogous to most countries in the international scenario, according to the World Health Organization survey, with 172 nations. In Brazil, the number of suicide deaths is three to four times higher among men and, in addition, research shows that the prevalence of self-extermination attempts may be higher in the male sex-diverse population. Based on the statistical data that infer gender and sexuality issues related to the psychological suffering of men, the present research aimed to qualitatively analyze, through the theories of masculinities, the biographical reports of gay, bisexual and heterosexual men who have already manifested suicidal behavior. The intention was to focus on the contexts of suffering that led the participants to ideations and attempts at self-extermination. In the end, the categories identified point to similarities and distinctions in the narratives of each sexual orientation group and show how the non-correspondence to hegemonic masculinity is expressed in the studied sexualities.

Tumor ovárico virilizante en mujer postmenopáusica: reporte de caso / Ovarian virilizing tumor in postmenopausal woman: case report

Ovarian steroid-producing tumors are infrequent entities and are potentially malignant. Testosterone is the hormone that rises more frequently and is associated mostly with signs of virilization. We present the clinical case of a 67-year-old postmenopausal woman who came to the clinic for alopecia, with high levels of testosterone and ovarian mass by ultrasound. Surgical treatment was indicated. The main diagnostic aspects are presented.

Los tumores productores de esteroides ováricos constituyen entidades infrecuentes y son potencialmente malignos. La testosterona es la hormona que se eleva con más frecuencia y se asocia en su mayoría a signos de virilización. Se presenta el caso clínico de una mujer postmenopáusica de 67 años que acude a consulta por alopecia, con niveles elevados de testosterona y masa ovárica por ecografía. Se indicó tratamiento quirúrgico. Se presentan los principales aspectos diagnósticos.

Personalidad y androgenización perinatal en mujeres / Personalidade e androgenização perinatal em mulheres / Personality and perinatal androgenization in women

Objetivo: indagar la influencia de la androgenización pe-rinatal sobre la personalidad en 60 mujeres con edades entre 18 y 42 años de la Región de Cuyo, Argentina.La muestra fue intencional, no aleatoria. Instrumentos: test MillonInventory of PersonalityStyles (MIPS); y la medida y relación de longitud de los dedos (RLD) 2D:4D de la mano derecha. Se formaron dos grupos de compara-ción: G1 con valores de RLD entre el mínimo y el valor medio, y G2 con mediciones entre el valor medio y el valor máximo. Resultados: La comparación de medias indicó diferencias entre G1 y G2 para las bipolaridades Introversión; Conformismo y Control. G1 presentó co-rrelaciones negativas entre las escalas individualidad (r=-0,31; z=0,05) e intuición (r=-0,33; z=0,04*) con RLD. Para G2, valores superiores de RLD, no hubo correlacio-nes. Conclusiones: el Individualismo; la Introversión; la Intuición; el Conformismo y el Control parecen ser más sensibles a los niveles androgénicos perinatales que el resto de las bipolaridades de la personalidad.

Objective: to investigate the influence of perinatal andro-genization on personality in 60 women between the ages of 18 and 42 in the Region of Cuyo, Argentina.The sample was intentional, not random. Instruments: Millon Inventory of Personality Styles test (MIPS); and the measurement and ratio of finger length (RLD) 2D:4D of the right hand. Two compari-son groups were formed: G1 with RLD values between the minimum and the mean value, and G2 with measurements between the mean and the maximum value.Results: Comparison of means indicated differences between G1 and G2 for the bipolari-ties of Introversion; Conformism and Control. G1 showed negative correlations between individuality (r=-0,31; z=0,05) and intuition (r=-0,33; z=0,04*) scales with RLD.For G2, higher RLD values, there were no correlations.Conclusions: Individualism; Introversion; Intuition; Conformism and Control seem to be more sensitive to perinatal androgenic levels than the rest of the bipolarities of personality.

Objetivo: investigar a influência da androgenização perinatal na personalidade de 60 mulheres entre 18 e 42 anos na região de Cuyo, Argentina. A amostra foi intencional, não aleatória. Instrumentos: Teste Millon Inventory of Personality Styles (MIPS); e a medida e a proporção do comprimento do dedo (RLD) 2D: 4D da mão direita. Foram formados dois grupos de comparação: G1 com valores de RLD entre o valor mínimo e o valor médio e G2 com medidas entre a média e o valor máximo.Resultados: A comparação das médias indicou diferenças entre G1 e G2 para as bipolaridades da Introversão; Conformismo e Controle. O G1 apresentou correlações negativas entre as escalas de individualidade (r = -0,31; z = 0,05) e intuição (r = -0,33; z = 0,04 *) com o RLD. Para o G2, maiores valores de RLD foram observados sem correlações.Conclusões: Individualismo; Introversão; Intuição; O conformismo e o controle parecem ser mais sensíveis aos níveis androgênicos perinatais do que o restante das bipolaridades da personalidade.

Diagnosis of an indistinct Leydig cell tumor by positron emission tomography-computed tomography

A 51-year-old perimenopausal female patient presented with hirsutism and voice thickening which was started approximately one and a half years ago. Her initial hormone assay revealed elevated plasma testosterone, 5a-dihydrotestosterone, and dehydroepiandrosterone (DHEA) levels and therefore androgen-secreting tumor was first suspected. However, the lesion was inconspicuous on transvaginal sonography, abdominal-pelvic computed tomography (CT) scan, and pelvic magnetic resonance (MRI) imaging. Consequently, 18F-fluorodeoxyglucose (FDG) positron emission tomography-CT was performed, which localized the lesion as a focal FDG uptake within the right adnexa. Total laparoscopic hysterectomy with bilateral salpingo-oophorectomy was performed, and although visible gross mass lesions were not observed intraoperatively, pure Leydig cell tumor was pathologically confirmed within the right ovary. Plasma testosterone, 5a-dihydrotestosterone, and DHEA levels were normalized postoperatively. Clinical signs of virilization were also significantly resolved after 3-months of follow-up.

Phenotypic variation of 46,XX Late IdentifiedCongenital Adrenal Hyperplasia among Indonesians / Journal of the ASEAN Federation of Endocrine Societies

Objectives@#To describe the phenotype variation in Indonesian 46,XX late-identified congenital adrenal hyperplasia(CAH) and the correlation between 17-hydroxyprogesterone (17-OHP) and genital virilization.@*Methodology@#Retrospective study of 39 cases with five salt-wasting (SW) and 34 simple virilizing (SV) types.@*Results@#The median age of the patients was 9.83 years (range, 0.58 to 44 years) with Prader score 2 to 5. Clitoromegaly (100%) and skin hyperpigmentation (87%) were the most common features. Lack of breast development(Tanner 1 to 2) and menstrual disorders occurred in 9 patients (teenagers and adults). Short stature (6), low voice (14),prominentAdam’s apple (9) and hirsutism (4) were found only in SV types Rapid growth (7) and precocious puberty (8)were identified in children. Male gender on admission was found in 13 patients. The mean of 17-OHP level was 304.23nmol/L [standard deviation (SD) 125.03 nmol/L]. There was no correlation between 17-OHP levels and virilization(r=0.19, p>0.05).@*Conclusion@#Late-identified CAH showed severe virilization and irreversible sequelae, with clitoromegaly and skinhyperpigmentation as the most commonly seen features. Masculinization of CAH females created uncertainty withregard to sex assignment at birth, resulting in female, male and undecided genders. There is no significant correlationbetween 17-OHP levels with the degree of virilization in CAH females

The XY female: A rare case of Swyer syndrome with dysgerminoma

Swyer Syndrome is a pure form of gonadal dysgenesis that although rare, should not be disregarded in the differential diagnosis of patients who present with primary amenorrhea and abdominopelvic mass. The dysgenetic gonads fail to produce antimullerian hormone in an individual with Swyer Syndrome who is genetically male, resulting in feminization and absence of virilization. Phenotypically female, they usually seek consult at a later time during their teenage years due to primary amenorrhea. Our index patient consulted due to a large abdominopelvic mass and primary amenorrhea. Hormonal assay showed a hypergonadotropic hypogonadism endocrinologic milieu, and on karyotyping, showed a genetically male individual. This paper shall discuss an in-depth pre-operative, surgical and post-operative management of patients diagnosed with Swyer Syndrome.

Tumor de células de Leydig do ovário associado a virilização em paciente na pós-menopausa / Ovarian Leydig cell tumor associated with virilization in postmenopausal patient

Tumores de células de Leydig são neoplasias de células esteroides e correspondem a menos de 0,5% dos tumores ovarianos. Ocorrem mais comumente na pós-menopausa e se apresentam com virilização em metade dos casos. Relatamos o caso de uma mulher de 53 anos com história de virilização. A investigação com ressonância magnética demonstrou altos níveis séricos de testosterona e um nódulo de 2 cm no ovário direito. A paciente foi submetida a ooforectomia bilateral, e a análise patológica confirmou o diagnóstico de tumor de células de Leydig do ovário direito. Um dia após a cirurgia, o nível sérico de testosterona se normalizou. Em quatro meses, a paciente apresentou nível sérico normal de testosterona e regressão parcial da alopecia. Em mulheres pós-menopáusicas com quadro de virilização progressiva, deve-se suspeitar de neoplasias ovarianas produtoras de andrógenos (AU)

Leydig cell tumors are tumors of the steroids cells and represent less than 0.5% of ovarian tumors. They occur most often in postmenopausal women and present with virilization in half of the cases. We report the case of a 53-year-old woman with virilization history. Magnetic resonance imaging showed high serum testosterone levels and a 2-cm nodule in the right ovary. The patient underwent bilateral oophorectomy, and the pathological analysis confirmed the diagnosis of Leydig cell tumor in the right ovary. The day after surgery, serum testosterone level was normalized. In four months, the patient had normal serum testosterone level and partial regression of alopecia. In postmenopausal women with progressive virilization, ovarian neoplasms producing androgens should be investigated (AU)

Tumores virilizantes del ovario: presentación de dos casos manejados mediante cirugía por monopuerto / Virilizing tumors of the ovary: presentation of two cases managed by single-port surgery

Los tumores virilizantes, corresponden al 1% de todos los tumores funcionales del ovario. Estos tipos de tumores virilizantes se originan de las células pluri-potenciales del estroma ovárico, tienen la capacidad de secretar 17-hidroxiprogesterona, testosterona y androstenediona, desencadenando hiperandrogenismo clínico. Son catalogados como de bajo potencial maligno, con un patrón de crecimiento lento, bien diferenciados, diagnosticados en su mayoría en estadío I y II, de buen pronóstico y típicos de mujeres en edad reproductiva. El objetivo de esta comunicación es presentar dos casos clínicos con diagnóstico de tumor virilizante de ovario, tratadas con cirugía laparoscópica por mono puerto.

Virilizing tumors, corresponding to 1% of all functional ovarian tumors. Those type of virilizing tumors originate from pluripotential ovarian stromal cells and have the capacity to secrete 17-hydroxyprogesterone, testosterone and androstenedione, triggering clinical hyperandrogenism. They are classified as low malignant potential, well differentiated, with a pattern of slow growth, mostly diagnosed in stage I and II, with good prognosis and typical of women of reproductive age. The aim of this paper is to present two cases of virilizing ovarian tumor treated by mono port laparoscopic surgery.

Virilizing Adrenocortical Carcinoma Advancing to Central Precocious Puberty after Surgery / 가정의학회지

Adrenocortical carcinoma (ACC) in pediatric and adolescent patients is rare, and it is associated with various clinical symptoms. We introduce the case of an 8-year-old boy with ACC who presented with peripheral precocious puberty at his first visit. He displayed penis enlargement with pubic hair and facial acne. His serum adrenal androgen levels were elevated, and abdominal computed tomography revealed a right suprarenal mass. After complete surgical resection, the histological diagnosis was ACC. Two months after surgical removal of the mass, he subsequently developed central precocious puberty. He was treated with a gonadotropin-releasing hormone agonist to delay further pubertal progression. In patients with functioning ACC and surgical removal, clinical follow-up and hormonal marker examination for the secondary effects of excessive hormone secretion may be a useful option at least every 2 or 3 months after surgery.

A three-year follow-up of congenital adrenal hyperplasia newborn screening / Um acompanhamento de três anos da triagem neonatal para hiperplasia adrenal congênita

OBJECTIVE: congenital adrenal hyperplasia (CAH) newborn screening can prevent neonatal mortality in children with the salt-wasting form of the disease and prevent incorrect gender assignments, which can occur in females. However, the occurrence of false-positive results in preterm or low-birth-weight newborns creates some diagnostic difficulties, with consequent therapeutic implications. This study aimed to report the results of a pilot project for neonatal CAH screening conducted in the state of Minas Gerais, Brazil from 09/2007 to 05/2008 with a three-year follow-up. METHODS: dried blood specimens were collected on filter paper cards three to seven days after birth of all newborns in the period. Samples were analyzed for 17-hydroxyprogesterone using an enzyme-linked immunosorbent assay (ELISA). RESULTS: a total of 159,415 children were screened. The apparent incidence of the classic variant of the disease was 1:9,963, based on initial diagnoses following newborn screening. During the follow-up period, eight of 16 children initially diagnosed with CAH were reclassified as unaffected, resulting in a revised incidence of 1:19,927. The false-positive rate was 0.31%, and the positive predictive value was 2.1%. Sensitivity and specificity were 100% and 99.7%, respectively. CONCLUSIONS: newborn screening is an important public health policy in developing countries such as Brazil, where CAH remains underdiagnosed. It has great potential to identify children with the disease who otherwise cannot be diagnosed earlier. Long-term follow-up and monitoring of all children with positive screening results are crucial to ensure a correct diagnosis and to calculate a reliable incidence ratio of the disease. .

OBJETIVO: a triagem neonatal para hiperplasia adrenal congênita (HAC) pode evitar a morte de recém-nascidos com a forma perdedora de sal e o registro civil incorreto das meninas. Entretanto, a ocorrência de resultados falso-positivos em recém-nascidos pré-termos ou com baixo peso ao nascer gera dificuldades diagnósticas, com consequentes implicações terapêuticas. O objetivo do estudo foi avaliar os resultados do projeto piloto de triagem neonatal para HAC realizado no estado de Minas Gerais, Brasil, de setembro de 2007 a maio de 2008 com acompanhamento de três anos. MÉTODOS: a dosagem da 17-hidroxiprogesterona foi realizada por ensaio imunoenzimático (ELISA), em amostras de sangue seco coletadas em papel-filtro, três a sete dias após o nascimento de todos os recém-nascidos no período. RESULTADOS: foram triadas 159.415 crianças. Observou-se incidência de 1:9.963 para a forma clássica da doença, baseando-se nos diagnósticos iniciais. Durante o período de acompanhamento, 8 de 16 crianças inicialmente diagnosticadas com HAC foram reclassificadas como não afetadas, resultando em uma incidência corrigida de 1:19.927. A taxa de falsos positivos foi de 0,31%, e o valor preditivo positivo foi de 2,1%. A sensibilidade e a especificidade foram 100% e 99,7%, respectivamente. CONCLUSÕES: a triagem neonatal é uma importante política de saúde pública para países em desenvolvimento como o Brasil, onde a HAC continua subdiagnosticada. Ela possui grande potencial para identificar crianças que poderiam não ter a doença reconhecida precocemente. O acompanhamento em longo prazo e o monitoramento de todas as crianças com resultados positivos na triagem são cruciais para confirmação diagnóstica e para o correto cálculo da incidência da doença. .

Ovarian Leydig cell tumor in a post-menopausal patient with severe hyperandrogenism / Tumor ovariano de células de Leydig em paciente em pós-menopausa com hiperandrogenismo grave

Leydig cell tumors are rare ovarian steroid cell neoplasms. More than 75% of patients show signs of virilization due to overproduction of testosterone. We report a case of an 8-year-old woman with progressive signs of virilization, and presenting vaginal bleeding. Clinical analyses revealed high levels of serum testosterone, delta 4-androstenedione and estradiol, and also inappropriate low levels of gonadotrophins for a post-menopausal woman. Transvaginal ultrasound showed no evidence of ovarian tumor, but pelvic and abdominal computerized axial tomography imaging revealed a left ovarian solid nodule, and no evidence of alteration in the adrenal glands. Total hysterectomy and bilateral salpingoophorectomy were performed. Histopathology and immunohistochemistry confirmed the diagnosis of Leydig cell tumor. After surgery, androgen levels returned to normal, and there was regression of the signs of virilization.

Tumores ovarianos de células de Leydig são neoplasias raras de células ovarianas esteroidogênicas. Mais de 75% dos pacientes apresentam sinais de virilização devido à produção excessiva de testosterona. Relatamos aqui o caso de uma mulher de 81 anos de idade com sinais progressivos de virilização e ocorrência de sangramento vaginal. As análises clínicas mostraram altos níveis de testosterona sérica, delta 4-androstenediona e estradiol, além de níveis inadequadamente baixos de gonadotrofinas para uma mulher em pós-menopausa. O ultrassom transvaginal não apresentou evidências de tumor ovariano, mas a tomografia axial computadorizada da região pélvico-abdominal mostrou um nódulo sólido no ovário esquerdo e nenhuma evidência de alteração nas adrenais. Foi feita uma histerectomia total e salpingooforectomia bilateral. Os exames histopatológicos e a imuno-histoquímica confirmaram o diagnóstico de tumor de células de Leydig. Após a cirurgia, os níveis de androgênios voltaram ao normal, e os sinais de virilização regrediram.

A rare case of virilizing ovarian steroid cell tumor in a 46 year-old woman: A case report and review of literature / Philippine Journal of Obstetrics and Gynecology

Virilization is the masculinization and enhancement of male secondary sexual characteristics in females. The etiology may be of adrenal or ovarian in origin. This case report shows a 46 year old woman who presented with defeminizing and virilizing symptoms. Further laboratory investigations revealed increased serum androgen levels and normal CT scan of the adrenals and kidneys. An ovarian mass was confirmed by transrectal ultrasonography. Following a total abdominal hysterectomy and bilateral salpingooophorectomy, histopathological and immunohistochemistry studies on the left ovarian mass confirmed an androgen-secreting, steroid-cell tumor, not otherwise specified (NOS). Serum testosterone values abruptly declined to normal levels within 1 month post-surgery. This paper likewise discusses an extensive review of literature regarding this rare ovarian tumor.

Classic congenital adrenal hyperplasia: a delayed presentation

Congenital adrenal hyperplasia [CAH] is a rare congenital disorder, which in cases of female genotype may result in virilization. Specific enzyme deficiencies in adrenocorticoid hormones biosynthetic pathway lead to excess androgen production causing virilization. Classic type presents early in infant life as salt losing or simple virilizing type, whereas non classic form presents late at puberty or in adult life. Depending on the type of classic CAH, type of adrenocorticoid deficiency, extent of virilization and genotype, surgical corrective procedures, glucocorticoid and mineralocorticoid replacement therapy are the mainstay of management. We present here a case of classic congenital adrenal hyperplasia of simple virilizing type, which presented later in childhood

Testosterona falsamente elevada em uma paciente diabética tipo 1 com acne e insuficiência renal crônica em diálise / Falsely elevated testosterone in a type 1 diabetes patients with acne and chronic renal failure on dyalisis

Descrevemos uma paciente com diabetes tipo 1 com acne e insuficiência renal crônica, em diálise, que apresentou uma dosagem de testosterona total e livre elevada (612 ng/dL, normal < 90 ng/dL e 255 pMol/L, normal: 20-45 pMol/L, respectivamente). Na avaliação clínica, além da acne facial não havia qualquer outro sinal de hiperandrogenismo. Após ter esse resultado confirmado, ela foi submetida à avaliação morfológica de adrenal e ovários (tomografia computadorizada de adrenal e ultrassom pélvico), cujos resultados foram normais. Na ausência de quadro clínico de virilização, foram consideradas outras possibilidades que pudessem explicar a elevação da testosterona, entre as quais a presença de comorbidades (diabetes e insuficiência renal crônica) e falha do método de dosagem. Uma nova determinação da testosterona total, por meio da cromatografia líquida de alta performance como método preparativo e espectrometria de massa em tandem, resultou normal (21 ng/dL), compatível com uma concentração de testosterona total falsamente elevada pela presença de interferentes com o método de dosagem.

The purpose of this report is to present the case of a patient with type 1 diabetes with acne and chronic renal failure on dialysis admitted to the hospital with high total total and free testosterone (612 ng/dL, normal < 90 ng/dL; 255 pMol/L, normal: 20-45 pMol/L). On clinical evalua­tion, she presented facial acne, and no other signs of hyperandrogenism. As this result was confirmed, she underwent adrenal and ovary morphological assessment (adrenal CT and pelvic ultrasound), which yielded normal results. Due to divergence between clinical and laboratory findings, we considered other possibilities that could explain the elevation of testosterone, including the presence of comorbidities (diabetes and chronic renal failure) and failure of the testosterone assay. Testosterone levels were determined again by high performance liquid chromatography, as a preparative method, and tandem mass spectrometry, yielding normal results (21 ng/dL), which were compatible with a falsely elevated total testosterone level caused by the presence of factors that intereferred with the assay.

Successful term pregnancies after laparoscopic excision of poorly differentiated Sertoli-Leydig cell tumor of the ovary / 부인종양

Ovarian Sertoli-Leydig cell tumors are rare sex cord-stromal tumors, accounting for less than 1% of ovarian tumors. Majority of these tumors are benign and unilateral, only 3-5% are bilateral. These patients present with clinical features of virilization due to excessive secretion of testosterone from the tumor, however 50% may have no endocrine symptoms. We report a case of poorly differentiated Sertoli-Leydig cell tumour in a woman diagnosed during routine investigation of infertility. She had two spontaneous successful pregnancies after tumor excision laparoscopically.

A Adrenocortical Oncocytoma in a 10-year-old Girl Presenting with Virilization / 임상소아혈액종양

Adrenocortical oncocytoma is a rare epithelial tumor only described in adults and in most cases, benign and non-functioning. Histologically characterized by cells with eosinophilic granular cytoplasm and ultra-structurally by the presence of numerous closely packed mitochondria. We report a case of adrenal oncocytoma developed in a 10-year-old girl who presented a left adrenal mass with low voice tone, excessive hair growth, and elevation of the plasma testosterone and dehydroepiandrosterone sulfate levels as a result of overproduction of adrenal steroid hormones. After the left adrenalectomy, her hormone levels were normalized.

A Case of adrenocortical oncocytoma Presenting with Peripheral Precocious Puberty

Adrenocortical oncocytoma is a rare adrenal gland tumor, and in most cases, benign and non-functioning. Functional adrenocortical oncocytoma has only been reported in eleven cases worldwide, including three children. These cases all showed clinical symptoms and signs, such as virilization, feminization, Cushing syndrome and Conn syndrome, as a result of overproduction of adrenal steroid hormones. We report a 2-year-old girl who presented with precocious puberty with premature pubarche. Dehydroepiandrosterone sulfate (DHEA-S) and testosterone levels were elevated and a 1.9 cm right adrenocortical oncocytoma was found. After tumor resection, her hormone levels were normalized.

Adrenocortical tumors in children 18 years old and younger / 대한외과학회지

PURPOSE: Pediatric adrenocortical tumors (ACTs) are rare. We reviewed findings in 8 children, 18 years of age or younger, diagnosed with ACT in our institution over the past 15 years. METHODS: We retrospectively reviewed 8 children with ACTs treated between 1996 and 2010. RESULTS: Three girls and 5 boys were treated for ACTs; their median age at presentation was 144 months (range, 28 months to 18 years). Seven patients showed signs of endocrine dysfunction, 4 with Cushing syndrome, 2 with virilization, and 1 with hyperaldosteronism. One patient, with symptoms of hematuria, underwent a computed tomography scan, which showed an adrenal mass. The median duration of symptoms prior to resection was 6 months (range, 1 to 24 months). Five patients had adenomas and 3 had carcinomas. All underwent complete resection of the tumor, with laparoscopic adrenalectomy performed on 3 patients with adenoma and 1 with carcinoma. The median tumor weight was 12.5 g (range, 1 to 130 g) and the median tumor volume was 18.3 cm3 (range, 2.2 to 299.2 cm3). At a median follow-up of 5.1 years (range, 4 months to 15 years), all 8 patients remain alive with no recurrence of disease. CONCLUSION: The characteristics of pediatric ACTs vary considerably. Laboratory findings, clinical hormonal features, and tumor size could not distinguish adenomas from carcinomas before surgery. Complete tumor resection was successful, with no tumor recurrence. However, the small number of patients and short follow-up period limit assessments of prognosis.