Rare virilizing tumor: ovarian steroid cell tumor, not otherwise specified: a case report.

BACKGROUND: Ovarian steroid cell tumors, not otherwise specified is a rare sex cord-stromal tumor. Almost 60% of all steroid cell tumors are categorized as not otherwise specified and represent less than 0.1% of all ovarian neoplasm. Some of them are endocrinologically active, producing virilization signs in young women. The recommended treatment is primarily surgical. CASE PRESENTATION: We present the case of a 20-year-old Mexican woman with secondary amenorrhea and virilization signs. She was treated with combined oral contraceptives from 13 years old, due to a misdiagnosis of polycystic ovarian syndrome. However, 4 months after stopping medication, amenorrhea and virilization signs worsened. Biochemically, she had high serum total testosterone and free testosterone levels, and a pelvic and transvaginal ultrasound followed by a pelvic tomography scan demonstrated a right adnexal tumor. She underwent right salpingo-oophorectomy and the histopathological and immunochemistry exams confirmed the diagnosis. The patient was followed for a year after surgery and until then, her menses were regular and she had no recurrence of virilization signs. CONCLUSION: The purpose of this case report is to alert physicians to rule out ovarian steroid cell tumor, not otherwise specified diagnosis in young women with increased testosterone after discarding common causes such as polycystic ovarian syndrome. A multidisciplinary team including a gynecologist, endocrinologist, radiologist, and pathologist should be involved for correct diagnosis at the proper time.

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.

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.

Gender Identity and Sexual Function in 46,XX Patients with Congenital Adrenal Hyperplasia Raised as Males.

In individuals with congenital adrenal hyperplasia (CAH) and 46,XX karyotype, androgens produced by the adrenal glands during the intrauterine development promote virilization of the genitals, which may even result in the development of a well-formed penis. Some of these children with late diagnosis are registered as males after birth. After obtaining approval from the internal review board, we evaluated gender identity and sexual function in four 46,XX severely virilized patients with CAH, who were originally registered and raised as males, assisted in our Disorders of Sexual Development Clinic. The evaluation consisted of questionnaires to assess gender identity and sexual activity and interview with the multidisciplinary team that provides care for these patients. The patients underwent surgery to remove uterus, ovaries, and remaining vaginal structures, in addition to implantation of testicular prosthesis and correction of hypospadias, when necessary. All four patients have developed a clear male gender identity, and when evaluated for sexual activity, they have reported having erections, libido, orgasms, and sexual attraction to women only. Two of these 4 patients had satisfactory sexual intercourses when assessed using the International Index of Erectile Function questionnaire. The other two patients who never had sexual intercourse reported not having a partner for sexual activity; one is 18 years old, and the other is 14 years old. This study showed that this group of 46,XX severely virilized patients with CAH, registered and raised as males, adapted well to the assigned male gender, with satisfactory sexual function in patients who had sexual intercourse.

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.

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.

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 81-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.

A three-year follow-up of congenital adrenal hyperplasia newborn screening.

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.

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.

Extensive reproductive disruption, ovarian masculinization and aromatase suppression in Atlantic croaker in the northern Gulf of Mexico hypoxic zone.

The long-term impacts on marine ecosystems of the recent dramatic worldwide increase in the incidence of coastal hypoxia are unknown. Here, we show widespread reproductive disruption in Atlantic croakers collected from hypoxic sites approximately 120 km apart in the extensive northern Gulf of Mexico continental shelf hypoxic zone. Gonadal growth and gamete production were impaired in croakers from hypoxic sites compared with fish from reference normoxic sites east of the Mississippi River Delta. Male germ cells were detected in approximately 19 per cent of croaker ovaries collected in the hypoxic region, but were absent in ovaries from normoxic sites. In addition, the sex ratio was skewed towards males at the hypoxic sites. The masculinization and other reproductive disruptions were associated with declines in neuroendocrine function, as well as ovarian and brain expression of aromatase (the enzyme that converts androgens to oestrogens). A similar incidence of ovarian masculinization and decline in ovarian aromatase expression were observed in croaker after chronic laboratory hypoxia exposure, indicating that ovarian masculinization is a specific hypoxia response and is due to decreased aromatase activity. The results suggest severe reproductive impairment can occur over large coastal regions in marine fish populations exposed to seasonal hypoxia, with potential long-term impacts on population abundance.

[Malignant arrhenoblastoma. Case report and literature review]. / Arrenoblastoma maligno. Caso clínico y revisión bibliográbfica.

The arrenoblastome is an ovary tumor with masculine hormone production, testosterone and other hormones. Other names are: stromatic tumor or gonadal stromatic tumor, also steroid cell tumor. They are rare tumors; represent 0.5% of all ovary tumors. It could be present in all age women groups, more frequently in young people. Most of times unilateral (95%), solids or quistic-solids. Anaplastic grade give them a malignity disease in 5 to 10 % cases. We report the case of a 35 year-old woman with clinical appearance of androgenism for ovary tumor, she was accepted for surgery, founded 7 liters of ascitis, produced for an ovary tumor, integral capsule, it produced masculine hormones. Histological study reported ovarian sex cord tumor, high grade, 30 cm size, integral capsule, all normally. Stage IC. Size and differential cellular grade need systemic chemotherapy. At the time of this report her tumoral marks are normal, and she has gradual diminution of virilizing characters produced for ovary tumor. Prognosis of the disease depends the grade of cell differentiation and stage in surgical-pathological events. Survival to five years stage I is approximate in 70 to 90% of the cases. Angular stone treatment is surgery. Disseminate cases, chemotherapy or radiotherapy most be considerate. Usually arrenoblastome has poor possibilities of dissemination and considering the early detection the histological grade of healthy is very high.

Hiperandrogenismo avanzado en una mujer postmenopáusica: Caso clínico / Virilization caused by an ovarian tumor: Report of one case

We report a 76-year-old woman with a virilization syndrome characterized by progressive androgenic alopecia, clitoris enlargement and hirsutism predominating in the face. Plasma testosterone was 711 ng/dl. Magnetic resonance imaging showed slightly enlarged ovaries with a cyst in the left. A bilateral oophorectomy was performed, demonstrating the presence of a Leydig cell hilar tumor in the right ovary. The patient had a good postoperative evolution with reduction of androgen levels and reversion of alopecia.

Mature teratoma, a rare cause of virilization in adolescence.

Virilization in an adolescent patient can occur for multiple reasons (ovarian, suprarenal or exogenous reasons). We describe a 14-year-old patient with 1-year secondary amenorrhea, who had an ovarian mature teratoma as a cause of her clinical history.

[Virilization caused by an ovarian tumor. Report of one case]. / Hiperandrogenismo avanzado en una mujer postmenopáusica. Caso clínico.

We report a 76-year-old woman with a virilization syndrome characterized by progressive androgenic alopecia, clitoris enlargement and hirsutism predominating in the face. Plasma testosterone was 711 ng/dl. Magnetic resonance imaging showed slightly enlarged ovaries with a cyst in the left. A bilateral oophorectomy was performed, demonstrating the presence of a Leydig cell hilar tumor in the right ovary. The patient had a good postoperative evolution with reduction of androgen levels and reversion of alopecia.

Congenital adrenal hyperplasia in the Bahamas due to 21-hydroxylase deficiency.

OBJECTIVE: To determine the frequency of 21-hydroxylase deficiency in The Bahamas and the spectrum of this disorder METHODS: Patients referred for evaluation of virilization, precocious puberty, ambiguous genitalia and salt wasting had blood taken for 17-hydroxyprogesterone (17-OH progesterone) which was measured by Enzyme-Linked Immunosorbent Assay (ELISA). RESULTS: Nine patients had elevated 17-OH progesterone levels--confirming 21-hydroxylase deficiency. Range of levels was 174.9 nmol/l to 81678.7 nmol/L (normal less than 13 nmol/L). There were six females and three males and the age at diagnosis ranged from 21 days to 16 years. Five had precocious development, three had salt wasting, and there was one with virilization. One of the salt wasters had ambiguous genitalia. Incidence of 2l-hydroxylase deficiency--20/100,000; salt wasting--35/100,000; the prevalence of 21-Hydroxylase deficiency 10/100,000). CONCLUSION: The frequency of 21-Hydroxylase deficiency in The Bahamas is one of the highest worldwide.

Congenital Adrenal Hyperplasia in The Bahamas due to 21-Hydroxylase Deficiency / Hiperplasia Suprarrenal Congénita en las Bahamas por Déficit de 21-Hidroxilasa

OBJECTIVE: To determine the frequency of 21-hydroxylase deficiency in The Bahamas and the spectrum of this disorder METHODS: Patients referred for evaluation of virilization, precocious puberty, ambiguous genitalia and salt wasting had blood taken for 17-hydroxyprogesterone (17-OH progesterone) which was measured by Enzyme-Linked Immunosorbent Assay (ELISA). RESULTS: Nine patients had elevated 17-OH progesterone levels--confirming 21-hydroxylase deficiency. Range of levels was 174.9 nmol/l to 81678.7 nmol/L (normal less than 13 nmol/L). There were six females and three males and the age at diagnosis ranged from 21 days to 16 years. Five had precocious development, three had salt wasting, and there was one with virilization. One of the salt wasters had ambiguous genitalia. Incidence of 2l-hydroxylase deficiency--20/100,000; salt wasting--35/100,000; the prevalence of 21-Hydroxylase deficiency 10/100,000). CONCLUSION: The frequency of 21-Hydroxylase deficiency in The Bahamas is one of the highest worldwide.

OBJETIVO: Determinar la frecuencia del déficit de 21-hidroxilasa en las Bahamas y el espectro de este problema. MÉTODOS: A los pacientes remitidos para evaluación de virilización, pubertad precoz, genitales ambiguos, y pérdida de sal, se les extrajo sangre para medir la 17-hidroxiprogesterona (17-OH progesterona) mediante un inmunoensayo enzimático (ELISA). RESULTADOS: Nueve pacientes tuvieron niveles elevados de 17-OH progesterona, confirmando el déficit de 21-hidroxilasa. El rango de niveles fue de 174.9nmol/l a 81678.7 nmol/L (normal menos de 13). Había seis hembras y tres varones, y la edad al momento del diagnóstico oscilaba entre los 21 días y los 16 años. Cinco mostraban desarrollo precoz, tres presentaban pérdida de sal, y uno exhibía virilización. Uno de los pacientes con pérdida de sal presentaba también genitales ambiguos. Incidencia del déficit de 21-hidroxilasa – 20/100 000. (Incidencia de la pérdida de sal – 35/100 000. Prevalencia del déficit de 21-hidroxilasa – 10/100 000). CONCLUSIÓN: La frecuencia del déficit de 21-hidroxilasa en las Bahamas es una de las más altas a nivel mundial.

Newborn screening for congenital adrenal hyperplasia has reduced sensitivity in girls.

OBJECTIVES: To characterize Wisconsin-born infants with 21-hydroxylase deficiency-congenital adrenal hyperplasia (21-OH-D-CAH) who were not identified by the newborn screening for 21-OH-D-CAH, and to examine male and female screening 17-hydroxyprogesterone (17-OHP) levels. STUDY DESIGN: Information on infants with false-negative results was gathered. Results of the Wisconsin newborn screening for 21-OH-D-CAH from January 1, 2000, to June 30, 2003, were analyzed to detect possible differences between male (n=119,842) and female (n=114,951) infants. RESULTS: Six of 7 female infants with false-negative results had genital masculinization, and 4 of 8 infants with false-negative results had laboratory evidence of salt-wasting. None died, had a salt-wasting crisis, or was assigned the wrong sex. A significant difference in the mean 17-OHP levels between male (17.5 ng/mL) and female (15.4 ng/mL) infants (P <.0001) was detected. The sensitivity of newborn screening for female infants was 60%, compared with 80% for male infants. CONCLUSIONS: Male and female infants have significantly different mean 17-OHP levels on newborn screening, and female infants comprise most of the infants with false-negative results. Although health professionals should not assume that newborn screening for 21-OH-D-CAH is a means of identifying all affected infants, the primary goals of newborn screening for CAH (prevention of salt-wasting crises and sex misassignment) are fulfilled.