Recommendations for the diagnosis and treatment of classic forms of 21-hydroxylase-deficient congenital adrenal hyperplasia

Rodrı́guez, Alejandro; Ezquieta, Begoña; Labarta, José Ignacio; Clemente, María; Espino, Rafael; Rodriguez, Amaia; Escribano, Aranzazu

doi:10.1016/j.anpede.2016.12.002

Cited by 8 publications

(5 citation statements)

References 22 publications

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“…Es la causa más común de insuficiencia suprarrenal primaria en niños y adolescentes. Los objetivos del tratamiento son reemplazar la secreción fisiológica de glucocorticoides y mineralocorticoides para prevenir la pérdida de sal, controlar las manifestaciones asociadas con el hiperandrogenismo y mejorar los resultados en adultos [4][5][6] .…”

Section: Discussionunclassified

Hiperplasia suprarrenal congénita por mutación del gen StAR: revisión de un caso

Díaz-Flores¹,

Arguinzoniz-Valenzuela²,

Calzada‐León³

et al. 2024

RME

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La mutación del gen StAR es la causa de la hiperplasia lipoidea adrenal, una forma grave y muy poco frecuente de hiperplasia suprarrenal congénita. Presentamos el caso de una paciente de sexo femenino que fue derivada a nuestro centro a los 23 días de vida con dismorfias faciales y alteraciones electrolíticas. Diagnosticada inicialmente con insuficiencia suprarrenal, el estudio genético posterior puso de manifiesto una mutación en el gen StAR como causante del bloqueo alto de la vía adrenal.

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Section: Discussionunclassified

Hiperplasia suprarrenal congénita por mutación del gen StAR: revisión de un caso

Díaz-Flores¹,

Arguinzoniz-Valenzuela²,

Calzada‐León³

et al. 2024

RME

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“…Неклассическая форма ВГКН -это аутосомно-рецессивная наследственная группа расстройств, обусловленная нарушением стероидогенеза [26]. Показатели заболеваемости неклассической формой ВГКН сильно различаются в разных этнических группах: примерно 0,1% кавказцев; чаще в югославском (1,6%), испаноязычном (1,9%) и ашкеназском еврейском (3,7%) населении [27].…”

Section: причины гиперандрогении у подростковunclassified

Syndrome of hyperandrogenism in adolescent girls

Adamyan,

Sibirskaya,

Sharkov

et al. 2024

RPJ

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The diagnosis of hyperandrogenism may be based on clinical manifestations or on determining the blood level of androgens. Causes of hyperandrogenism in the peripubertal period are polycystic ovary syndrome (PCOS), non-classical forms of congenital adrenal hyperplasia (NCCAH), androgen-producing tumors, obesity, idiopathic hirsutism, and other rare causes. Physiological hyperandrogenism of peripubertal period passes within 2 years. PCOS affects from 4 to 21% of women of reproductive age and from 6 to 18% of adolescent girls. To date, there is no consensus on the diagnostic criteria for PCOS in teenage girls. At least, three symptoms are necessary: menstrual disorders, clinical and biochemical hyperandrogenism and polycystic ovaries. Diagnosis of NCCAH includes measurement of the level of 17-hydroxyprogesterone and a test with adrenocorticotropic hormone. The purpose of the treatment of these diseases is to reduce the manifestations of hyperandrogenism, regulate the menstrual cycle and improve the quality of life. Effective methods of pharmacotherapy are combined oral contraceptives and antiandrogens. An important stage is lifestyle changes in PCOS and obesity patients.

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“…Given the uncertainty regarding prenatal therapy fetal safety, some authors strongly oppose it [ 63 , 94 ], with national and international guidelines recommending it to be carried out only as experimental therapy in referral centers with appropriate informed consent and long-term follow-up registries [ 16 , 95 , 96 ]. Nowotny et al performed a survey of 36 centers from 14 European countries to evaluate current practice of prenatal treatment for 21-OHD: 13 of these centers carry out prenatal therapy, with great variability in terms of prenatal diagnostics and therapy starting points, dose fractioning, and the absence of follow-up registries in more than half of the responding centers [ 50 ].…”

Section: Cah and Pregnancymentioning

confidence: 99%

Pregnancy and Prenatal Management of Congenital Adrenal Hyperplasia

Cera

Locantore

Novizio

et al. 2022

JCM

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Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases that may cause cortisol insufficiency together with other hormonal alterations. The most common form is 21-hydroxylase deficiency, in which the lack of pituitary negative feedback causes an increase in ACTH and adrenal androgens. Classical forms of CAHs can lead to severe adrenal failure and female virilization. To date, the appropriate management of pregnant CAH patients is still debated regarding appropriate maternal therapy modifications during pregnancy and the risks and benefits of prenatal treatment of the fetus. We conducted a literature search of relevant papers to collect current evidence and experiences on the topic. The most recent and significant articles were selected, and current international guidelines were consulted to update current recommendations and guide clinical practice. Given the lack of randomized clinical trials and other high-quality scientific evidence, the issue is still debated, and great heterogeneity exists in current practice in terms of risk/benefit evaluation and pharmacological choices for pregnancy and prenatal treatment. Glucocorticoid therapy is advised not only in classical CAH patients but also in non-classical, milder forms. The choice of which glucocorticoid to use, and the safety and benefits of dexamethasone therapy aimed at preventing genital virilization are still debated issues. Several advances, however, have been made, especially in terms of fertility and reproduction. This review aims to present the most recent scientific and real-world updates on pregnancy and prenatal management of CAH, with the presentation of various clinical scenarios and specific case-by-case recommendations.

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Recommendations for the diagnosis and treatment of classic forms of 21-hydroxylase-deficient congenital adrenal hyperplasia

Cited by 8 publications

References 22 publications

Hiperplasia suprarrenal congénita por mutación del gen StAR: revisión de un caso

Hiperplasia suprarrenal congénita por mutación del gen StAR: revisión de un caso

Syndrome of hyperandrogenism in adolescent girls

Pregnancy and Prenatal Management of Congenital Adrenal Hyperplasia

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