El tratamiento se fundamenta en el uso de glucocorticoides y mineralocorticoides, con un seguimiento estricto para minimizar las reacciones adversas. Deficiencia 21 hidroxilada. Tamizaje neonatal. Leonardo Arismendy Rodriguez jlarismendy fucsalud. Gloria Restrepo B.

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Department of Pediatrics. Hospital Center of Leiria, Portugal 2. Coimbra, Portugal. Joana Costa Soares Departamento de Pediatria.

When acne is the tip of the iceberg. Adolesc Saude. The severe acne, therapeutically resistant or associated with systemic symptoms may be a sign of a systemic disease. We report a case of non-classic congenital adrenal hyperplasia NCAH , in which the main sign was severe and refractory acne. There were no signs of precocious puberty, accelerated growth or hirsutism. She had elevated levels of total testosterone, deltaandrostenedione and hydroxyprogesterone and no changes in the adrenal gland or polycystic ovarian criteria.

A genetic study confirmed the suspicious diagnosis of NCAH, when she was then medicated with hydrocortisone and had a good response. Oral corticosteroids are recommended in symptomatic cases. Severe and treatment-resistant acne should be investigated and NCAH hypothesis should be considered. The diagnosis of NCAH is also important because it is a possible cause of infertility and because prenatal counseling is recommended. The present study describes a case of congenital adrenal hyperplasia of the non-classical adrenal HCRS-NC in an year-old adolescent whose presentation was exuberant acne and with poor treatment response.

This case is considered relevant because acne was the only sign of hyperandogenism, leading to the diagnosis of an endocrinological disease with potential long-term consequences.

It presented a regular staturo-ponderal growth, without increase of the speed of growth and normal psychomotor development. She had no family history of infertility, genital ambiguity or unexplained neonatal death, and didn't take chronic medication. At age eight the patient started acne lesions, at the age of nine pubic pilosity appeared and the telarche occurred at the age of ten. She first used the Dermatology consultation at the age of ten and was medicated with minocycline and erythromycin, without acne improvement, and was referred to the Adolescent Medicine clinic.

In this consultation, at the age of 11 years and 2 months, the objective examination was the exuberant acne with cicatricial lesions on the face, cervical region and thorax Figure 1. Figure 1. Exuberant acne in the patient analyzed at age 11 Image courtesy of the family. Figure 2. Improvement of the patient's acne picture analyzed after treatment Image courtesy of the family.

Figure 3. Changes in the cortisol synthesis pathway by the hydroxylase deficit. Voltar Topo Imprimir. CEP: E-mail: secretaria.

The adolescent presented an increase in total testosterone In pelvic and adrenal ultrasound didn't show masses in the adrenal, ovaries had normal dimensions presenting some cystic structures of probable functional nature. A genetic study was performed that revealed a mutation g. It presented good clinical evolution, keeping acne stable Figure 2. He had menarche at twelve with regular cycles. Post-treatment periodic laboratory examination, including evaluation at the last consultation at the age of thirteen, revealed a trend towards normalization of the analytical parameters Table 1.

The disease can have two clinical presentations: classic form, subdivided in loss of salt and simply virilizing; and the non-classical or late expression form. However, they may later show signs of androgen excess or remain asymptomatic. In infancy the disease can manifest itself as precocious puberty with accelerated growth, with the risk of compromising the final height, due to the early closure of the epiphyses.

The diagnosis may be suggested by the clinic, but it is confirmed by hormonal changes. Elevation of OHP is the biochemical marker of hydroxylase deficiency. There may also be an increase in the urinary excretion of OHP metabolites, such as preganetriol. In the differential diagnosis of HCSR-NC should be considered other pathologies that occur with excess production of androgens, namely Polycystic Ovarian Syndrome, adrenal tumors or gonads and Cushing's syndrome.

Treatment is only necessary if there are symptoms, since unlike the classic form, oral corticosteroid therapy isn't essential for survival. Thus, children whose diagnosis was made by genetic screening have no indication for treatment.

The dose of corticosteroids used is as minimal as possible to suppress excess androgens. Prednisolone and dexamethasone are also used in adults, which, however, should be avoided at pediatric age because of the risk of compromising growth.

Adrenal secretion of androgens should not be completely stopped, since suppressed levels of OHP may indicate excess treatment. In couples who have had a child with HCSR or when one of the parents has the disease, genetic counseling is important because of the increased risk of fetuses with the classic form of the disease, whose salt-losing form causes life-threatening associated hydroelectrolytic disorders.

However, prenatal diagnosis is only possible from the 9th to 11th weeks of gestation by biopsy of the chorionic villi, or from 15 to 18 weeks of gestation by amniocentesis. The calculated probability of a couple, in which one is a non-classical and one in the general population, of having a child with the classic form is 1: , which is significantly greater than the risk calculated on the basis of the incidence of population.

Treatment should be instituted before the 8th week of gestation in all women whose fetuses are at risk of having the classic form of the disease. This therapy should be discontinued when the fetus is male or when prenatal diagnosis excludes the classical form of the disease. Its presentation may be monosymptomatic, which implies a high clinical suspicion for its diagnosis. THANKS To all the colleagues who followed this case and who collaborated in the diagnosis and subsequent therapeutic orientation.

To the parents for the availability of their daughter's images. Evidence-based recommendations for the diagnosis and treatment of pediatric acne. Lucky AW. Hormonal correlates of acne and hirsutism. AM J Med. Congenital adrenal hyperplasia and acne in male patients. Br J Dermatol. SAPHO syndrome in an adolescent: a clinical case with unusual severe systemic impact. J Adolesc Health. Refractory acne and hidroxylase deficiency in a selected group of female patients. Acne and systemic diseases.

EMJ Dermatol. Rev Port Endocrinol Diabetes Metab. Acta Med Port. J Clin Endocrinol Metab Sep;95 9 Falhammar H, Nordenstrom A. Nonclassic congenital adrenal hyperplasia due to hydroxylase deficiency: clinical presentation, diagnosis, treatment and outcome. Port Endocrinol Diabetes Metab. Genetics and clinical presentation of nonclassic late-onset congenital adrenal hyperplasia due to hydroxilase deficiency.

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Hiperplasia adrenal congénita por déficit de 21 hidroxilasa: un reto diagnóstico y terapéutico

Es importante que su hijo sea examinado tan pronto como sea posible. CAH sin tratamiento puede resultar en una seria enfermedad y en algunos casos, la muerte. Hay por lo menos 5 enzimas que se necesitan para producir cortisol del material en bruto colesterol. Si decide que no hay suficiente cortisol presente, la pituitaria suelta una hormona llamada hormona adrenocorticotropo o ACTH, abreviado. El mecanismo del termostato no funciona. Esta "gente que deshace sal" pierden grandes cantidades de sal en su orina.


Manejo de la hiperplasia suprarrenal congénita

Skip to search form Skip to main content You are currently offline. Some features of the site may not work correctly. Congenital adrenal hyperplasia CAH is a group of disorders caused by defects in the adrenal steroidogenic pathways. It is generally classified as classical and non-classical forms. The goals of treatment are to replace the cortisol and aldosterone deficiency, avoid hyperandrogenism and achieve the best final height. View PDF. Save to Library.


Hiperplasia Adrenal Congénita: Libro de Información Para los Padres

Items in Repository are protected by copyright, with all rights reserved, unless otherwise indicated. Show full item record Give your opinion. Late onset congenital adrenal hyperplasia due to hydroxylase deficiency: revision of literature and preconception genetic study of five couples. This disorder is one of the most frequent hereditary illnesses of autosomal recessive trait. The illness can be presented in two clinical forms: 1 - classic, subdivided in saltwasting form and simple virilizing form; 2 - nonclassic or late-onset.

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