- Information on the rare condition
- Educational materials/Information for school, travel etc.
- Patient organizations
Congenital adrenal hyperplasia (CAH) is a group of rare inherited autosomal recessive disorders of the adrenal glands that can affect both boys and girls. The adrenal glands are responsible for producing the following hormones:
- Cortisol, which regulates blood pressure, glucose and the body’s response to illness or stress
- Mineralocorticoids, such as aldosterone, which regulate sodium and potassium levels
- Androgens, such as dihyroepiandrostenedione (DHEA), which are weak sex hormones.When significantly elevated these androgens may induce virilisation of the female external genitals.
A defect in one of the enzymes involved in the adrenal steroid synthesis will make the body unable to produce cortisol and often also aldosterone, which in turn will result in the overproduction of androgens and accumulation of other hormone precursors before the enzymatic block.
The most common cause of CAH is a defect of the enzyme 21-hydroxylase (21 hydroxylase deficiency (21OHD), which can present as severe or mild forms depending on the underlying mutation: Classical 21OHD, which can be sub-divided into the salt-losing form or the simple-virilising form, and non-classical CAH.
Classical 21OHD, the severe form, is characterised by cortisol deficiency and detected in the neonatal period. The most severe form of classical 21-OHD, the salt-wasting form, additionally is characterised by aldosterone deficiency and leads to life-threatening salt-wasting crises in the first weeks of life if not detected and adequately treated. Patients with the simple virilising form are also at risk for adrenal crises due to lack of cortisol. Therefore, neonatal screening has been introduced in many countries all over the world.
In addition, in girls with classical 21OHD, the increased secretion of pituitary ACTH due to the lack of the negative feedback of cortisol on the pituitary gland leads to chronic stimulation of the adrenal gland with consequently increased production of the unaffected androgen pathway and thus to a variation of female sex differentiation, which is called 46,XX DSD (Difference of Sex Development). In affected girls, virilisation, the formation of an androgenised external genitalia with clitoral hypertrophy and fusion of vagina and urethra occurs already prenatally. The uterus and ovaries are not affected.The severity of virilisation is often determined according to Prader and divided into 5 stages. The changes can range from a slight enlargement of the clitoris to the formation of a phallus that resembles a penis. Depending on the severity, genital correction may be necessary or desired. Due to the different legal situations in the respective European countries, additional consultations and authorisations are sometimes required for the protection of the children.
Non-classical 21OHD, the milder form and more common, may not become evident until childhood or early adulthood Symptoms are mostly evident in girls who present with acne, hirsutism or irregular menstruation.Although 21OHD is not curable, as long as patients receive adequate care and treatment, they can go on to lead normal lives and good quality of life can be achieved.21OHD is treated by lifelong substitution of glucocorticoids and, if necessary, mineralocorticoids.Below you will find:
- Information on the rare condition
- Educational materials/Information for school, travel etc.
- Patient organizations
The copyright has been observed for documents from third parties. For links to external websites, the copyright on these pages must be respected. No responsibility can be taken for the content of external websites, as we have no influence on them.
The country codes at the end of the pdf’s indicate the language of the document.
(Source references: Patient organisation website, endocrinology/paediatric societies, endrocrinologists/paediatricians, RC,NORD)
Information on the rare disease
- Adrenogenitaal syndroom (AGS) – BijnierNET (NL)
- Senter for sjeldne diagnoser (NO)
- Qué es la hiperplasia suprarrenal congénita – Hiperplasia suprarrenal congénita – Asociación española HSC (hiperplasiasuprarrenalcongenita.org) (ES)
- Hyperplasie Congénitale des Surrénales – Association Surrénales (surrenales.com) (FR)
- HyperplasieCongenitaleSurrenale-FRfrPub648v01.pdf (orpha.net) (FR)
- Introduzione – ArfSAG ISC ONLUS iperplasia surrenalica congenita (airisc.org) (IT)
- Adrenogenitales Syndrom – www.endokrinologie.net (DE)
- AGS Foreningen | Hvad er AGS ? (DK)
- Kongenital binjurebarkshyperplasi – Socialstyrelsen (SE)
- Vardprogram för kongenital binjurebarkhyperplasi(pdf) (SE)
- Harvinaisten endokrinologisten sairauksien hakukone | Harvinaissairaudet.fi | Terveyskylä.fi (terveyskyla.fi) (FI)
- Video: Information CAH bulgarian with Prof. Violeta Iotova
Educational materials/Information for school, travel etc.
- Medical certificate can be found here.
- Adrenal-APP – Adrenals.eu/de (available in several languages)
- European Emergency card – Adrenals.eu (available in several languages)
- SOS -materialien
- Animations – Adrenals.eu
Bulgaria
- Adrenal crisis – information for adult patients (pdf)
- Adrenal insuficiency-patient card for children (pdf)
- Adrenal insuficiency-patient leaflet for children (pdf)
- Treatment of adrenal crisis of children (pdf)
- CAH Patient Leaflet 1 (pdf)
- CAH Patient Leaflet 2 (pdf)
- Individuel Health Care Plan for Kindergarten and school (pdf)
Denmark
- CAH-veileder_18.pdf (oslo-universitetssykehus.no)
- CAH_Barnehage_Skole_20.pdf (oslo-universitetssykehus.no)
- Skolestartboka_2021_til nett_mindre.pdf (oslo-universitetssykehus.no)
- Medfødt binyrebarksvikt (CAH) – Oslo universitetssykehus HF (oslo-universitetssykehus.no)
Spain
- GUIA-HIPERPASIA-SUPRARRENAL.pdf (hiperplasiasuprarrenalcongenita.org)
- Triptico guía para familiares y pacientes HSC (hiperplasiasuprarrenalcongenita.org)
- Hiperplasia suprarrenal congénita – Encuentros Virtuales con la Comunidad Hospital Posadas – YouTube
France
- Association Française sur les maladies des surrénales reconnue d’intérêt général (surrenales.com)
- InsuffisanceSurrenalienneAigue_FR_fr_EMG_ORPHA95409.pdf
- Insuffisance surrénale (solidarites-sante.gouv.fr)
- HyperplasieCongenitaleSurrenale-FRfrPub648v01.pdf (orpha.net)
- Note d’Information aux couples à risque (surrenales.com)
- HYPERPLASIE FR congenitale L 6 – LECTURE FACILE 23 AVRIL 09 (surrenales.com)
- HYPERPLASIE FR congenitale L6 LECTURE MOYENNE 23 AVRIL 09 (surrenales.com)
- HCS enf+8 ans version 22 03 (surrenales.com)
- Injection d’hydrocortisone en sous cutanée en cas d’urgence – Association Surrénales (surrenales.com)
Switzerland
United Kingdom
- Microsoft Word – CAHInfoLeaflet_Bham.docx (livingwithcah.com)
- Non-Classical-CAH-Leaflet-2019.pdf (livingwithcah.com)
- Adrenal crisis | Society for Endocrinology
- congenital-adrenal-hyperplasia-cah-web-version.pdf (bsped.org.uk)
- Medical Advisors | Living with CAH
- Updated NHS Steroid Card Released | Living with CAH
- Microsoft Word – Ambulance_intro_and_letter_template.docx (livingwithcah.com)
- Microsoft Word – CAH School letter.doc (livingwithcah.com)
- Medical Alert Bracelets, Necklaces & More | American Medical ID (universalmedicalid.co.uk)
- TabTime – Medication Management Products – Tabtime Limited
- paediatric-steroid-treatment-card.pdf (endocrinology.org)
- steroid-card.pdf (endocrinology.org)
- What is Congenital Adrenal Hyperplasia (CAH)? – Bing video
- Understanding Congenital Adrenal Hyperplasia (CAH) – Jumo Health – Bing video
The Netherlands
- Ouders van een basisschoolkind met AGS – themapagina – BijnierNET
- Zorg voor opgroeiende kinderen met een bijnieraandoening – Transitie – BijnierNET
- Ouders van een baby met AGS – Themapagina – BijnierNET
- Themapagina – volwassenen met AGS – BijnierNET
- Zorgpad AGS – Radboudumc
- DSD Nederland
- Cyberpoli
Patient training/educationtool:
- Adrenogenitaal syndroom – Radboudumc
- Bijnieren en bijnieraandoeningen – Overview | Rise 360 (articulate.com)
- Praktijksituaties voor jongeren – Overview | Rise 360 (articulate.com)
- Praktijksituaties voor jongeren – Overview | Rise 360 (articulate.com)
Germany
- Klassisches AGS (AGS- Eltern- und Patienteninitiative, pdf)
- Nicht-klassisches AGS (AGS- Eltern- und Patienteninitiative, pdf)
- Lisa und Paul (AGS- Eltern- und Patienteninitiative, pdf)
- AGS und Sport (Prof. Dr. Bonfig, pdf)
- Transition (Prof. Dr. Reisch, pdf)
- Notfallausweis AGS (Kinder/Schule/ Verein, Prof. Dr. Bonfig, pdf)
- AGS.pdf (leaflet glandula)
Sweden
Finland
Videos on YouTube in english:
- CoMICs Episode 7: Congenital Adrenal Hyperplasia (CAH) – YouTube
- Happy and Healthy with CAH – YouTube
Patient organizations
Austria:
Bulgaria:
Denmark:
Hungary:
Italy
Germany:
- AGS-Eltern-und Patienteninitiative e.V.
- Netzwerk Hypophysen- und Nebennierenerkrankungen e.V. Glandula Online: Startseite (glandula-online.de)
