Under-virilization may occur in XY males, which may cause female external genitalia. In females, hypogonadism may cause sexual infantilism or abnormal pubertal development and infertility.

Cortisol is an adrenal steroid hormone required for the endocrine function that is produced in the second month of fetal life. Poor cortisol production is a hallmark of CAH. Inefficient cortisol production results in elevated adrenocorticotropic hormone (ACTH). Increased ACTH stimulation induces hyperplasia of the steroid-producing cells of the adrenal cortex. The defect results in adrenal hyperplasia.

La prioridad es llegar a la persona; vamos allí donde se encuentre y se pueda establecer un vínculo. Es un programa de intervención proactivo, de alta movilidad y flexibilidad:

El programa dispone de equipos multidisciplinares organizados en “unidades móviles” que permiten trabajar en medio abierto, ofreciendo una intervención comunitaria (intervención de proximidad, de calle) de acompañamiento y acercamiento para entrar en contacto con aquellas personas que están fuera de la red asistencial. Además, posibilitan acudir a recursos con los que estas personas tienen contacto (centros de menores, residencias, etc.) para acercar a los mismos una atención especializada en adicciones y salud mental.

No existe una duración establecida, cada persona avanza a su propio ritmo, teniendo en cuenta sus circunstancias. Lo importante es poder avanzar en un proceso de mejora de la calidad de vida de la persona, empoderamiento en el ejercicio de sus derechos y utilización de los recursos existentes.

Neonatal screening programs typically have specific reference ranges by weight and gestational age because high levels may be seen in sick, stressed, or premature infants without congenital adrenal hyperplasia. Salt-wasting patients may have higher 17 alpha-hydroxyprogesterone levels than non-salt-wasting patients. In mild cases, 17 alpha-hydroxyprogesterone may not be elevated initially, but it will rise during a corticotropin stimulation test. In many countries, children are screened for 21-hydroxylase at birth. This test will detect elevated levels of 17-hydroxyprogesterone. Identifying patients with high levels can result in early treatment and relatively normal life.

El programa ofrece, a las personas usuarias, una primera valoración de la situación social, psicológica y sanitaria gracias al carácter multidisciplinar de los equipos. Tras la misma, en diálogo con la persona y en coordinación los recursos de referencia –si los hubiera–, se propone una oferta 100% individualizada de posibles apoyos y atenciones que puedan ser de valor para la persona, entre las que se incluyen:

Cortisol deficiency in CAH is usually partial. The synthesis of cortisol shares steps with the creation of aldosterone, testosterone, and estradiol. The resulting excess or decreased production of these hormones produces multiple problems.

Se trata de un programa de apoyo que ofrece posibilidad de atención de lunes a domingo en horario de atención diurna a concretar en cada caso.

Infants with ambiguous genitalia need a surgical consult for corrective surgery. The risks and benefits of early versus delayed operation should be carefully discussed with the child's parents by a multidisciplinary team of specialists involving the pediatric endocrinologist, urologist, surgeon, and anesthesiologist. Surgery should only be done in centers that specialize in genitoplasty. Surgery is only undertaken in a few selected infants and must be done by experienced surgeons.

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The goal of medical treatment of congenital adrenal hyperplasia differs by the age of the patient. CAH is a recessive gene, so both the mother and father must be recessive carriers. Couples with recessive CAH genes may prevent CAH through preimplantation genetic diagnosis.[4][10][11] Prenatal treatment is not recommended and currently considered experimental.

Se interviene en ámbito comunitario, de forma adaptada al entorno en el que se trabaja, teniendo en cuenta las características del municipio y los recursos de que dispone.

Cardinal Health

La atención tiene carácter gratuito por estar subvencionada por  el Departamento de Igualdad, Justicia y Políticas Sociales del Gobierno Vasco. En los casos que sea necesario, el coste de la medicación que se prescriba dentro de la intervención también será asumido por el programa.

CAH is associated with a defective gene. The most common gene defect in 95% of cases is on CYP21A2, which is the gene coding for 21-hydroxylase, which is found on 6p21.3 as part of the human leukocyte antigen (HLA) complex. Inefficiency produced by the specific alleles found in each patient introduces variability. Milder degrees of inefficiency lead to excessive sex hormone effects in childhood or adolescence. The mildest form interferes with ovulation and fertility in adults.

Objectives: Describe the etiology of congenital adrenal hyperplasia.Summarize the role of diagnostic imaging in the evaluation of congenital adrenal hyperplasia.Outline the management of congenital adrenal hyperplasia.Review the importance of collaboration and communication among interprofessional team members to enhance care coordination for patients with congenital adrenal hyperplasia. Access free multiple choice questions on this topic.

Most males have no signs of CAH at birth. However, some may present with hyperpigmentation and penile enlargement while those with salt-wasting disease present early with hyponatremia and hypovolemia. Males with non-salt-wasting disease present later with signs of virilization. In rare forms, males are under-masculinized.

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El programa ERDU, es un programa de atención a la salud mental y las adicciones, con una perspectiva comunitaria, de proximidad. Surge como fruto de la colaboración entre cuatro entidades (Gizakia, Etorkintza, Agipad y Jeiki) de toda la Comunidad Autónoma y el respaldo y financiación del Departamento de Igualdad, Justicia y Políticas Sociales del Gobierno Vasco.

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The adrenal cortex is the site for steroidogenesis and produces three significant steroids–glucocorticoids in the form of cortisol which regulates the body’s metabolism and immune response; the mineralocorticoid, aldosterone which modulates electrolytes, blood pressure, and vascular volume and adrenal androgens, the sex hormones which regulate secondary sex characteristics in females. Cholesterol got from endogenous synthesis, or dietary sources are the precursor for steroid synthesis. The pathway for steroid synthesis is mediated by various enzymes, including 21-hydroxylase, 11-beta-hydroxylase, and 17-alpha-hydroxylase. 21-hydroxylase is crucial in the path leading to the production of all steroids because it is required for the conversion of 17 hydroxyprogesterone (17OHP) to 11-deoxycortisol (the precursor for cortisol) and also the conversion of progesterone to 11 deoxycorticosterone (the precursor of aldosterone) while 11-beta-hydroxylase is essential for the production of cortisol and the androgen, dehydroepiandrosterone (DHEA). Deficiency of either of these enzymes impairs production of the major steroids stimulating corticotropin mediated accumulation of cortisol precursors, causing a shift in steroid pathogenesis towards androgen production. Fetal androgen excess leads to various degrees of virilization at birth.

Since all forms of CAH have an autosomal recessive pattern of inheritance, both sexes are equally affected. However, because of the accumulated testosterone or precursor hormones, the phenotypic expression may be different in both genders. CAH is usually obvious at birth or soon after because of the ambiguous genitals, early virilization, or salt wasting. Atypical cases may be recognized around puberty with the presence of virilizing signs or oligomenorrhea in females.

Buscamos mejorar la calidad de vida de la persona, reducir riesgos y daños y promover su acceso al ejercicio de derechos individuales y sociales, mediante intervenciones educativas, psicoterapéuticas y de salud, tanto individuales como grupales.

El objetivo de ERDU es ser un puente hacia el sistema vasco de servicios sociales y sanitarios para personas con serios problemas para el acceso y vínculo con los recursos existentes (por cuestiones administrativas, dificultades personales, de vinculación, aislamiento...).

CAH is a relatively common disorder, but the clinical presentation does vary with the severity of enzyme deficiency. Besides disordered genital development, many of these infants present with other systemic features like electrolyte abnormalities and hypoglycemia. Thus, CAH is best managed by an interprofessional team that includes a geneticist, endocrinologist, a pediatric surgeon, a fertility expert, and a nurse specialist. Pharmacists review medicines prescribed and drug-drug interactions. Specialty care nurses provide teaching to patients and parents. Nurses communicate changes in patient to conditions the team. Referral to a mental health counselor may be appropriate because many patients develop emotional distress over the ambiguous genitals. These infants need lifelong monitoring because too little or too much glucocorticoids can have detrimental effects. Even as adults, many of these patients need assessment of their genitals because problems like vaginal stenosis and dyspareunia are not uncommon.[12][13][14] [Level 5]

Patients with CAH require stress dose steroids in cases of significant trauma, surgery requiring general anesthesia, febrile illnesses, and gastroenteritis leading to dehydration; however, not for minor ailments, everyday stress, or exercise.

Colaboramos con equipos de profesionales de recursos de atención social y sanitaria, que soliciten asesoramiento u orientación para el abordaje de situaciones con personas con adicciones y patología mental.

En Gizakia abordamos de manera específica todos los tipos de adicciones con intervenciones tanto individuales como grupales a cargo de profesionales con amplia experiencia en este ámbito.

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Female infants will have ambiguous genitalia because of exposure to high concentrations of androgens in-utero. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a common cause of ambiguous genitalia in genotypically normal female infants (46XX). Females less severely affected may present with early pubarche. Young women may present with oligomenorrhea, polycystic ovaries, and hirsutism (polycystic ovarian syndrome).[8][9]

Unless hemorrhage is suspected in the adrenal glands, imaging studies are not required in evaluating patients with CAH. However, in patients with ambiguous genitalia, pelvic ultrasound may be done to assess for other anomalies and define the anatomy of the urogenital tract.

A two-tier approach to the diagnosis of CAH is recommended. The initial screening test is done by measuring serum 17OHP to screen for 21-hydroxylase deficiency. If positive, then a repeat 17OHP test should be obtained along with a measurement of the serum electrolyte panel. Classic 21-hydroxylase deficiency causes 17 alpha-hydroxyprogesterone blood levels greater than 242 nmol/L.

Congenital adrenal hyperplasia most commonly results from mutations or deletions of CYP21A. This mutation produces a 21-hydroxylase deficiency in 90%-95% of adrenal hyperplasia cases. Mutations or partial deletions that alter CYP21A also are common. The estimated prevalence is one case per 60 individuals in the general population but increases to one in three in select genetically isolated communities with a smaller gene pool. CAH, which is caused by 21-hydroxylase deficiency, is found in all populations, whereas 11-beta-hydroxylase deficiency is more common in individuals of Iranian, Jewish, or Moroccan descent.[5][4] Disease severity and phenotypic presentation vary depending on the location and extent of gene mutations or deletions, which lead to complex allelic variations.[6] For example, almost 300 CYP21A2 mutations have been identified, making genotyping these individuals a cumbersome undertaking. Patients with classic CAH may present as simple virilizing CAH or salt-wasting CAH and are usually diagnosed in infancy while patients with nonclassic CAH may be asymptomatic or present with a milder form of virilization postnatally.

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La adicción es un desorden caracterizado por una urgencia psicológicamente incontrolable de realizar una conducta, sea consumir, sea jugar, u otras (compras, atracones...). Esta conducta descontrolada de manera persistente y progresiva, afecta negativamente a todas las áreas de la vida, tanto personal, como familiar, laboral o de ocio de la persona que la sufre.

¿Tú o alguien de tu entorno sufre algún problema con el que os podemos ayudar? Si se trata de algún problema relacionado con adicciones, con la búsqueda de empleo o con hijos o hijas adolescentes, ponte en contacto con Gizakia, contamos con profesionales que pueden acompañarte.

During infancy and childhood, treatment aims to prevent adrenal crises, early virilization, promote normal growth, avoid electrolyte abnormalities and dehydration. In adolescents and adults, the goal of treatment shifts to achieving normal reproductive function and fertility while avoiding chronic complications of medication insufficiency or excess, including Cushing syndrome. To achieve this balance requires close monitoring. Educating parents, caregivers, and older patients with CAH about the signs, symptoms, prevention, and emergency treatment of adrenal crises is an integral part of the management of CAH. All patients with CAH are advised to wear medical identification and have a glucocorticoid emergency injection kit for use in adrenal crises.

Patients with CAH need lifelong follow up to monitor the doses of glucocorticoids and mineralocorticoids and monitor the side effects of these hormones. Patients with CAH should have routine screening for cardiovascular and metabolic diseases as the general population.

ERDU es un programa comunitario especializado de atención sociosanitaria de proximidad dirigido a personas con problemática de adicciones y salud mental con serias dificultades para establecer un vínculo con los recursos existentes, que acerca la atención allí donde se encuentre la persona.

If the disorder is promptly diagnosed and treated, the prognosis for most patients is good. However, even though the physical deficits can be overcome, most patients have lifelong emotional issues that stem from ambiguous genitalia. Other problems that can occur in these patients include:

Patients suffering from congenital adrenal hyperplasia and their families should be educated about the disease in order for them to comprehend the importance of replacement therapy of deficient hormones. They should also understand that in times of illness or stress there would be an increased need for glucocorticoids. Hence, they must be educated in the technique of IM injections of glucocorticoids.

El objetivo del proyecto es la vinculación progresiva de la persona con recursos de la red de atención sociosanitaria para la mejora de su situación general, tanto social, como sanitaria, residencial o laboral.

In the past, some infants required bilateral adrenalectomies to manage severe virilization and prevent premature skeletal maturation- however, today, this procedure is rarely done.

In the United States, congenital adrenal hyperplasia is more common in Native Americans and Yupik Eskimos. Among Whites, the incidence is approximately 1 in 15,000.[7]

Supply enough glucocorticoids to reduce hyperplasia and reduce the overproduction of androgens and mineralocorticoids.Provide replacement of mineralocorticoids and extra salt if deficient.Provide testosterone or estrogen replacement at puberty if deficient.Additional therapy, as needed, to optimize growth by delaying puberty or delaying bone maturation.

2. Conexión con Sistema Sanitario y Social (acompañamiento a recursos, coordinación, intermediación, derivación, seguimiento).

Following are some important differentials that should be taken into account while making the diagnosis of congenital adrenal hyperplasia:

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Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease emerging from mutations of genes for enzymes that lead to the biochemical steps of production of glucocorticoids, mineralocorticoids, or sex steroids from cholesterol by the adrenal glands. Most of these diseases involve the excessive or deficient production of sex steroids that can alter the development of primary or secondary sex characteristics in some affected infants, children, or adults.[1][2][3] Sometimes, deficient production of mineralocorticoids can lead to severe salt-wasting, increasing neonatal morbidity, and mortality. Universal newborn screening for CAH, done in the U.S. and many developed countries, is recommended for early diagnosis and institution of therapy.[4].

Está dirigido a personas en situación de exclusión o grave riesgo de padecerla, con problemática de salud mental y adicciones, como por ejemplo personas en situación de sin hogar o muy aisladas, jóvenes migrantes en exclusión social, mayores con consumos crónicos de alcohol, mujeres en situaciones de alta vulnerabilidad...

Sí, siempre y cuando se trate de personas en situación de grave exclusión o riesgo de padecerla y presenten serios problemas para el acceso y vínculo con  los  recursos  existentes (por cuestiones administrativas, dificultades personales, de vinculación, aislamiento…).

A second-tier test using liquid chromatography-tandem mass spectrometry allows diagnosis of CAH due to other enzyme defects such as 11-beta-hydroxylase. Patients with inconclusive results may need further evaluation using a cosyntropin stimulation test followed by a complete adrenocortical profile. When indicated, the cosyntropin stimulation test should be done 24 to 48 hours after birth to reduce the incidence of false-positive and negative results.[4]

Derechos: Acceso, rectificación, supresión, limitación del tratamiento, portabilidad de datos u oposición, incluida la oposición a decisiones individuales automatizadas.

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Tanto las personas físicas como entidades, pueden contactar con nosotros  través del teléfono 94 479 57 83, el email erdu@gizakia.org o directamente en la sede de Bailén para realizar consultas, informar casos sobre los que intervenir o solicitar directamente una valoración.

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease emerging from mutations of genes for enzymes that lead to the production of glucocorticoids, mineralocorticoids, and sex steroids by the adrenal glands. This activity summarizes the evaluation and management of patients with congenital adrenal hyperplasia and highlights the role of the interprofessional team in managing this condition.