A functioning adrenal adenoma and pheochromocytoma in the same adrenal gland: two discrete adrenal incidentalomas

No abstract available.

Diagnosis and Treatment of Adrenal Insufficiency / 한양의대학술지

Adrenal insufficiency is caused by either primary adrenal failure or by hypothalamic-pituitary impairment of the corticotropic axis which is predominantly due to long-term glucocorticoid treatment or by pituitary disease. Primary adrenal failure is a rare disease that is life-threatening when overlooked whle adrenal failure secondary to hypothalamo-pituitary disease is a common clinical problem that has serious impact on the quality of life. Recent data suggests that the health-related quality of life in many patients with adrenal insufficiency is more severely impaired than previously thought and that current hormone replacement strategies are insufficient to prevent increased morbidity and mortality due to the disease. Therefore, the optimization and careful monitoring of glucocorticoid and mineralocorticoid replacement therapy remains one of the most challenging tasks in endocrinology. Leaving treatment aside, diagnosis of adrenal insufficiency is also challenging, because the main presenting symptoms such as fatigue, anorexia, and weight loss are non-specifically associated with many other common ailments, delaying a correct diagnosis. Some pitfalls in diagnostic work-up, particularly in the identification of secondary adrenal insufficiency, make the diagnosis even more difficult. Despite the difficulties, the complications associated with adrenal insufficiency make the rapid diagnosis and proper management of adrenal failure are important tasks for all physicians. We review here current standards for clinical assessment, diagnosis and treatment of adrenal insufficiency in light of recent research findings.

Enfermedad de addison: reporte de caso y revisión de la literatura / Addison's disease: case report and review of literature

Justificación: La crisis adrenal o insuficiencia adrenal aguda es vista con una frecuencia baja en los departamentos de urgencias, a pesar de lo anterior es de gran importancia porque trae consigo un desenlace generalmente fatal si no se reconoce y se trata en forma adecuada. Objetivo: El presente artículo describe un caso de enfermedad de Addison, y realiza una revisión de los aspectos relevantes en su fisiopatología, diagnóstico y tratamiento. Caso Clínico: Hombre de 53 años de edad, que consulto por náuseas, vómito y diarrea, en el examen físico se documento hipotensión sostenida con presiones sistólicas en el rango de 60 a 70 mmHg. Por lo cual se inicio hidratación intravenosa, sin embargo, el paciente persistió con una presión arterial de 70/42 mmHg. Los exámenes paraclínicos documentaron hipoglucemia, hiponatremia e hiperkalemia, por lo cual se hace la impresión diagnóstica de Enfermedad de Addison, iniciándose tratamiento con glucocorticoides con adecuada evolución. Conclusiones: Las crisis adrenales se deben sospechar en todo paciente con hipotensión refractaria al tratamiento con hidratación parenteral y/o empleo de catecolaminas, el tratamiento debe iniciarse inmediatamente se realice la confirmación por exámenes de laboratorio, ya que, el pronóstico es bueno si se diagnostica y trata en forma adecuada.

Background: The adrenal crisis is infrequently in the emergency departments, but it has a generally fatal outcome if not it’s recognized and it treats correctly. Clinical case: Masculine Patient of 53 years old, who consults by nauseas, vomit and diarrea, in the physical examination documents hypotension maintained with systolic pressures in to the 70 rank from 60 mmHg. Intravenous hidratation begins, nevertheless the patient persists with an arterial pressure of 70/42, the Paraclinic examinations document hypoglycaemia, hiponatremia and hiperkalemia, thus is made impression diagnoses Addison’s Disease, and beginning treatment with glucocorticoids with suitable evolution. Conclusions: Is due to remember that the adrenal crises are due to suspect in all patient with refractory hypotension to the treatment with parenteral hidratation and/or use catecholamines, the treatment must begin immediately is made the confirmation by laboratory examinations, the prognosis is good if it is diagnosed and it treated in suitable form.

Função adrenal na sepse e choque séptico / Adrenal function in sepsis and septic shock

OBJETIVO: Rever os critérios diagnósticos e o tratamento de insuficiência adrenal, em pacientes da faixa etária pediátrica, com sepse grave e choque séptico. FONTES DOS DADOS: Os artigos foram selecionados através das bases de dados MEDLINE (1966-junho 2007), Embase (1994-2007) e Cochrane Library (2000-2007). As seguintes palavras-chave foram utilizadas: choque séptico, sepse, corticosteróides, insuficiência adrenal e crianças. SÍNTESE DOS DADOS: Não existe um critério bem estabelecido e aceito para definir insuficiência adrenal em pacientes criticamente enfermos. A incidência de insuficiência adrenal varia de acordo com o critério utilizado, podendo alcançar desde valores inferiores a 15 por cento até superiores a 61 por cento. O teste rápido de estímulo com hormônio adrenocorticotrófico (ACTH) é largamente utilizado como um teste simples para a identificação de não responsividade adrenocortical, mas existe muita discussão quanto à dose de corticotropina a ser utilizada. A dose de 250 µg é a dose padrão. Recentemente, baixas doses de corticotropina (1 µg) têm sido propostas, com a sugestão de que elas possam ter uma maior sensibilidade. Dúvidas ainda persistem quanto à eficácia da reposição com baixas doses de corticosteróides em crianças com choque refratário às catecolaminas. Mais estudos são necessários para determinar se o tratamento de tais pacientes alteraria morbidade e/ou mortalidade. CONCLUSÃO: Insuficiência adrenal é comum em crianças com sepse grave e choque séptico e pode contribuir para o desenvolvimento de choque refratário às catecolaminas. Contudo, dúvidas ainda persistem em relação à eficácia da terapêutica com baixas doses de corticosteróides.

OBJECTIVE:To review diagnostic criteria and treatment of adrenal insufficiency in pediatric patients with severe sepsis and septic shock. SOURCES: Articles were selected using MEDLINE (1966-June 2007), Embase (1994-2007) and Cochrane Library (2000-2007) databases. following key words were utilized: septic shock, sepsis, corticosteroids, adrenal insufficiency and children. SUMMARY OF THE FINDINGS: There are no well established and accepted criteria to define adrenal insufficiency in critically ill patients. Incidence of adrenal insufficiency varies according to different criteria, and it may range between low values of 15 percent and high values of 61 percent. The rapid corticotropin stimulation test is widely used as a method to identify adrenocortical hyporesponsiveness, but controversy exists as to the corticotropin dose to be used. The 250 µg dose is the standard dose. Low doses of corticotropin (1 µg) have recently been proposed, suggesting that they may have higher sensitivity. There are still doubts as to the efficacy of low doses of corticosteroids in children with catecholamine-refractory shock. Further studies are needed to determine whether the treatment of these patients would change morbidity and/or mortality. CONCLUSION: Adrenal insufficiency is common in children with severe sepsis and septic shock and may contribute to the development of catecholamine-refractory shock. However, doubts still persist regarding the efficacy of replacement therapy with low-doses steroids.

Differential diagnosis of Cushing's syndrome: [review]

The differential diagnosis of Cushing's syndrome requires careful multidisciplinary interaction with a number of specialities, co-ordinated through endocrine centres with good experience of this condition. It is essential that the diagnosis of Cushing's syndrome be fully established before differential diagnosis is attempted. The endocrinologist needs to be aware of the pitfalls and advantages of the tests in use. We discuss the approach to the differential diagnosis of this challenging condition.

O diagnóstico diferencial da síndrome de Cushing requer uma interação multidisciplinar cuidadosa entre várias especialidades, coordenadas através de centros de endocrinologia com boa experiência nessa condição. É essencial que o diagnóstico da síndrome de Cushing seja estabelecido antes da tentativa de diagnóstico diferencial. O endocrinologista precisa estar atento às possíveis falhas e vantagens dos testes empregados. Nós discutiremos a abordagem do diagnóstico diferencial nessa condição desafiadora.

Pitfalls in the diagnosis of Cushing's syndrome: [review]

Among endocrine disorders, Cushing's syndrome (CS) is certainly one of the most challenging to endocrinologists due to the difficulties that often appear during investigation. The diagnosis of CS involves two steps: confirmation of hypercortisolism and determination of its etiology. Biochemical confirmation of the hypercortisolaemic state must be established before any attempt at differential diagnosis. Failure to do so will result in misdiagnosis, inappropriate treatment, and poor management. It should also be kept in mind that hypercortisolism may occur in some patients with depression, alcoholism, anorexia nervosa, generalized resistance to glucocorticoids, and in late pregnancy. Moreover, exogenous or iatrogenic hypercortisolism should always be excluded. The three most useful tests to confirm hypercortisolism are the measurement of 24-h urinary free cortisol levels, low-dose dexamethasone-suppression tests, and determination of midnight serum cortisol or late-night salivary cortisol. However, none of these tests is perfect, each one has different sensitivities and specificities, and several are usually needed to provide a better diagnostic accuracy. The greatest challenge in the investigation of CS involves the differentiation between Cushing's disease and ectopic ACTH syndrome. This task requires the measurement of plasma ACTH levels, non-invasive dynamic tests (high-dose dexamethasone suppression test and stimulation tests with CRH or desmopressin), and imaging studies. None of these tests had 100 percent specificity and their use in combination is usually necessary. Bilateral inferior petrosal sinus sampling is mainly indicated when non-invasive tests do not allow a diagnostic definition. In the present paper, the most important pitfalls in the investigation of CS are reviewed.

Entre as doenças endócrinas, a síndrome de Cushing (SC) é certamente uma das mais desafiadoras para o endocrinologista, devido às dificuldades que comumente surgem durante a investigação. O diagnóstico de SC envolve dois passos: a confirmação do hipercortisolismo e a determinação de sua etiologia. A confirmação bioquímica do excesso de cortisol precisa ser estabelecida antes de qualquer tentativa de diagnóstico diferencial; caso contrário, poderá resultar em diagnóstico incorreto, tratamento impróprio e manejo insuficiente. Deve também ser lembrado que hipercortisolismo pode ocorrer em certos pacientes com depressão, alcoolismo, anorexia nervosa, resistência generalizada aos glicocorticóides e no final da gravidez. Além disso, hipercortisolismo exógeno ou iatrogênico deverá ser sempre excluído. Os três testes mais úteis para a confirmação do hipercortisolismo são: a medida do cortisol livre em urina de 24 h, os testes de supressão com dexametasona (TSD) em doses baixas e a determinação do cortisol sérico à meia-noite ou do cortisol salivar no final da noite. Contudo, nenhum deles é perfeito, cada um com sua sensibilidade e especificidade, sendo vários deles usualmente necessários para fornecer uma melhor acurácia diagnóstica. O maior desafio na investigação da SC envolve a diferenciação entre a doença de Cushing e a síndrome do ACTH ectópico. Esta tarefa requer a medida dos níveis plasmáticos de ACTH, testes dinâmicos não-invasivos (TSD com doses altas e testes de estímulo com CRH ou desmopressina) e estudos de imagem. Nenhum desses testes tem 100 por cento de especificidade e muitas vezes é necessário seu uso combinado. Amostragem venosa do seio petroso inferior está indicada principalmente quando os testes não-invasivos não permitem uma definição diagnóstica. Neste artigo, revisaremos as mais importantes armadilhas na investigação da SC.

Effect of hypercortisolism control on high blood pressure in Cushing's syndrome / Efecto del control del hipercortisolismo sobre la hipertensión arterial en el síndrome de Cushing

Many hypertensive patients affected by endogenous Cushing's syndrome (CS) persist with high blood pressure (HBP) despite good control of cortisol excess. We assessed the effect of preoperative ketoconazole administration and of definitive treatment of CS on arterial hypertension and analysed the factors involved in the persistence of hypertension. We assessed retrospectively 71 patients with CS and HBP (60 women, 11 men; 50 pituitary, 21 adrenal) successfully treated by surgery and/or radiotherapy; 19 of them received ketoconazole (KNZ) before surgery. After treatment, patients were divided into those with persistent high blood pressure (PHBP) and those with normal blood pressure (NBP). As possible predictive factors for PHBP we analysed age, duration and family history of HBP, pre-treatment 24 hour urinary free cortisol (24h-UFC) and body mass index (BMI). HBP normalized in 53 out of 71 patients (74.6%), regardless of the origin of Cushing's syndrome. PHBP patients were older (p=0.003), had longer duration (p=0.007) and higher systolic blood pressure before treatment (p=0.046) than NBP patients. Thirteen out of 19 patients (68.4%) treated with ketoconazole, normalized their hypertension and remained normotensive after successful surgery. Five patients became normotensive only after surgery. In conclusion: a) blood pressure levels normalized in most patients after remission of CS; b) ketoconazole was effective for the control of HBP, and seems to be a good indicator of post-surgical outcome, and c) higher age at presentation, longer duration of hypertension and higher systolic blood pressure figures before treatment negatively influence normalization of blood pressure after resolution of Cushing's syndrome.

Muchos pacientes con síndrome de Cushing (SC) permanecen hipertensos a pesar del control del exceso glucocorticoideo. Investigamos el efecto de la administración de ketoconazol (KNZ) y del tratamiento definitivo del SC sobre la hipertensión arterial (HTA), analizando su relación con diversos factores. Evaluamos 71 pacientes con SC e HTA (60 mujeres, 11 varones; 50 pituitarios, 21 adrenales) exitosamente tratados por cirugía y/o radioterapia; 19 de ellos recibieron KNZ antes de cirugía. Luego del tratamiento, fueron divididos en pacientes con HTA persistente (HTAP) y normal (HTAN). Como posibles factores predictivos de HTAP se analizaron edad, duración, historia familiar de HTA, cortisol libre urinario de 24 hs pre-tratamiento e índice de masa corporal. La HTA normalizó en 53/71 pacientes (74.6%) independientemente del origen del síndrome de Cushing. Los pacientes con HTAP fueron de mayor edad (p=0.003), con mayor duración previa (p=0.007) y valores mayores de presión arterial sistólica antes de tratamiento (p=0.046) que aquellos con HTAN. Trece de 19 pacientes (68.4 %) tratados con ketoconazol normalizaron su tensión arterial y se mantuvieron normotensos luego de cirugía exitosa. Cinco pacientes se tornaron normotensos solo después de cirugía. En conclusión: a) la HTA se normalizó en la mayoría de pacientes luego de remisión del SC, b) el ketoconazol fue efectivo para el control tensional y aparenta ser indicador de la evolución pos-quirúrgica, y c) mayor edad, duración más prolongada de la HTA y valores más altos de presión sistólica influencian negativamente la normalización de la presión arterial luego de resolución del síndrome de Cushing.

Efecto de dosis altas de budesonida y función suprarrenal de niños asmáticos severos / High doses of inhaled budesonide and adrenal function in children with severe asthma

Background: The use of inhaled steroids is common in the treatment of bronchial asthma in children. Aim: To assess adrenocortical function in children with severe asthma receiving inhaled budesonide for six or more months. Material and methods: Children with severe asthma that required 800 µg/day or more of inhaled budesonide and that did not required systemic steroids for more than six days in the last four months to control their disease, were studied. Serum cortisol was measured one hour after administration of 0.25 mg of ACTH (Cosyntropin®) intravenously. The test was considered normal if post stimulation serum cortisol was over 18 µg/ml. Results: Twenty children (aged 5 to 14 years, 15 males), were studied. The stimulation test was normal in 17 children. Conclusions: Alterations in adrenal function are present in a small proportion of asthmatic children who require 800 µg/day of inhaled budesonide.

Adrenocortical function relation to inflammatory markers in early untreated rheumatoid arthritis

To study adrenocortical function alterations in patients with early rheumatoid arthritis [RA]. 25 untreated patients with new onset RA were studied and compared with 25 age and sex-matched healthy subjects [controls]. All subjects were studied for plasma ACTH, cortisol, dehyroepiandrosterone sulfate [DHEAS], free and total testosterone, erythrocyte sedimentation rate, C-reactive protein and rheumatoid factor. No significant differences in the basal levels of ACTH, Cortisol, DHEAS, and total testosterone when comparing RA patients with controls were found, while there were statistically significant elevations in the inflammatory indices [ESR and CRP] and lower basal morning levels of free testosterone [Lower in males age >/= 45 years] in RA patients when compared with controls. From this study we concluded that adrenocortical function seem to be unaltered in early untreated RA patients

Changes in the fecal concentrations of cortisol and androgen metabolites in captive male jaguars (Panthera onca) in response to stress

In the present study we determined the efficacy of the measurement of fecal cortisol and androgen metabolite concentrations to monitor adrenal and testicular activity in the jaguar (Panthera onca). Three captive male jaguars were chemically restrained and electroejaculated once or twice within a period of two months. Fecal samples were collected daily for 5 days before and 5 days after the procedure and stored at -20ºC until extraction. Variations in the concentrations of cortisol and androgen metabolites before and after the procedure were determined by solid phase cortisol and testosterone radioimmunoassay and feces dry weight was determined by drying at 37ºC for 24 h under vacuum. On four occasions, fecal cortisol metabolite levels were elevated above baseline (307.8 ± 17.5 ng/g dry feces) in the first fecal sample collected after the procedure (100 to 350 percent above baseline). On one occasion, we did not detect any variation. Mean (± SEM) fecal androgen concentration did not change after chemical restraint and electroejaculation (before: 131.1 ± 26.7, after: 213.7 ± 43.6 ng/g dry feces). These data show that determination of fecal cortisol and androgen metabolites can be very useful for a noninvasive assessment of animal well-being and as a complement to behavioral, physiological, and pathological studies. It can also be useful for the study of the relationship between adrenal activity and reproductive performance in the jaguar.

Insuficiência adrenal na criança com choque séptico / Adrenal insufficiency in children with septic shock

OBJETIVO: Revisar os critérios para o diagnóstico e o tratamento da insuficiência adrenal nos pacientes com choque séptico. FONTES DOS DADOS: Artigos publicados em revistas nacionais e internacionais, selecionados nas suas páginas eletrônicas e através do Medline, bem como referências citadas em artigos chaves. SíNTESES DOS DADOS: Nos trabalhos publicados na literatura, o achado de insuficiência adrenal em pacientes com choque séptico tem variado entre 17 por cento a 54 por cento. Os dados publicados até a presente data, na literatura consultada, revelam a inexistência de um consenso para o diagnóstico da insuficiência adrenal em pacientes com doenças críticas, particularmente naqueles com choque séptico. A presença de choque refratário a volume e resistente a catecolaminas pode ser aceito como sugestivo, enquanto que um cortisol basal inferior a 25 µg/dl é um critério diagnóstico indicativo de insuficiência adrenal. O teste de estimulação adrenal é um recurso útil na identificação dos pacientes com insuficiência adrenal relativa. Nossa opção de teste para estimulação adrenal em pediatria é a utilização de corticotropina em baixas doses (0,5 µg/ 1,73 m²). Um aumento inferior a 9 µg/dl no valor do cortisol pós-teste sugere a presença de insuficiência adrenal oculta (relativa). Nos pacientes com choque séptico apresentando insuficiência adrenal, suspeita ou confirmada, a utilização de hidrocortisona em dose de choque ou de estresse pode ser vital na sua evolução favorável. CONCLUSÕES: Os dados existentes na literatura, embora controversos, já nos permitem especular sobre quando iniciar o tratamento de reposição hormonal, sobre qual o nível sérico de cortisol aceito como adequado e em relação à escolha da dose de corticotropina, para a realização do teste de estimulação adrenal e diagnóstico de insuficiência adrenal oculta ou relativa nos pacientes com choque séptico.

Achalasia--alacrima--ACTH insensitivity syndrome (Triple A syndrome).

Triple A syndrome is characterized by achalasia of the cardia, alacrima, adrenocorticotrophic hormone (ACTH) resistant adrenal insufficiency and progressive neurological abnormalities including autonomic nervous dysfunction. An 8-year-old girl presented to the pediatric intensive care unit with sudden loss of consciousness and was diagnosed subsequently to have this condition. The authors present this condition since it is easily treatable and can be fatal if undiagnosed.

Triple A syndrome--diagnostic and management issues.

The authors present a family with three children affected with triple A syndrome--one had died, one was saved by diagnosis and timely therapy, and one was born after the diagnosis in the second child. The gene for the syndrome has been cloned and genetic counseling should be offered to these families.

Effects of topical corticosteroids on adrenal function in childeren with atopic dermatitis

The aim of this study was to investigate the response to low-dose [500 ng/1.73 m2] adrenocorticoid hormone [ACTH] test in atopic dermatitis [AD] patients in comparison with the normal controls. Twenty-five prepubertal children were compared with 8 healthy control subjects [mean age 7.56 +/- 2.5 years, respectively; male to female ratio 1.1:1 and 1:1, respectively]. All patients were subjected to thorough medical history and clinical examination as well as random blood glucose, total and differential blood count and plasma cortisol [mug/dl] was measured by radioimmunoassay. The basal [0], peak [30], 60-minute and increment [peak minus basal] in plasma cortisol concentrations in children with mild AD used mild potent corticosteroid were not significantly different from the controls indicating a normal adrenal sensitivity to low-dose adrenocorticoid hormone [ACTH]. In moderate AD patients, used moderately potent corticosteroid, the peak and increment in the plasma cortisol levels were lower than the controls but within the normal values. Severe AD patients, used potent corticosteroid, showed lower peak and subnormal increment; while the basal and 60-minute plasma cortisol levels were within the normal level. There was a significant positive correlation between the peak, the basal, increment and 60-minute corticosteroid levels; whereas, they were inversely correlated with the eosinophilic count in all patients. The increment did not correlate with the basal and stimulated levels of plasma cortisol in the group of severe AD

Evaluation of low dose ACTH stimulation test in suspected secondary adrenocortical insufficiency.

BACKGROUND: Several studies in the last few years have shown that the standard 250 micro g dose used in ACTH stimulation test may be very high and have suggested that a dose of 1 micro g may be sufficient for evaluating hypothalamo-pituitary adrenal (HPA) axis. AIMS: To evaluate the role of low dose ACTH stimulation test in patients with suspected Secondary Adrenal Insufficiency (SAI). SUBJECTS AND METHODS: Thirty-one patients of suspected SAI with a documented pituitary lesion and seven normal healthy controls were included in the study. All the subjects underwent ACTH stimulation test with standard high dose (HD= 250 microg) and low dose (LD= 1 microg) ACTH. Insulin Induced Hypoglycaemia (IIH) test was done in 7 out of 9 patients in whom the results of the two tests were discordant. The cut off for normal HD stimulation test was taken as peak cortisol response > 18 microg/dl and for LD test, either a cortisol response of > 18 microg/dl or an increment of more than 7 micro g/dl over the basal value at any time during the test, on the basis of response observed in controls. RESULTS: 22/31 patients (74%) in SAI group showed concordant results with both tests, whereas nine patients had discordant results. These nine patients showed AI with LD ACTH, but HD ACTH test showed a normal response. In 7 of these 9 patients who underwent IIH, AI was confirmed in 6. CONCLUSION: The LD ACTH stimulation test seems to be better than HD ACTH stimulation test for evaluating HPA axis in patients with suspected SAI. When basal cortisol is normal, LD ACTH stimulation test detects subtle SAI.

Plasma cortisol response to 1 microgram adrenocorticotropin at 0800 h & 1600 h in healthy subjects.

BACKGROUND & OBJECTIVES: Cortisol response to 250 micrograms adrenocorticotropin (ACTH) exhibits no circadian variation. Information on the circadian variation, if any, in cortisol response to 1 microgram ACTH, which is considered as a physiological dose is not available. As the 1 microgram ACTH stimulation test is projected as an outpatients procedure with no time constraint, this information is very important. Hence, this study was designed to assess whether any circadian variability exists in cortisol response to 1 microgram ACTH in healthy subjects. METHODS: Thirty six healthy volunteers (23 male and 13 female) with mean age of 32.2 +/- 9.0 yr were consecutively studied after obtaining informed consent. On day 1, prestimulated and stimulated plasma cortisol samples were collected at 0800 h and, at 30 and 60 min following an intravenous bolus of 1 microgram ACTH, and on day 3, plasma cortisol samples were similarly collected at 1600 h. Cortisol estimation was done by a sensitive and specific radioimmunoassay. Stimulated plasma cortisol of 500 nmol/1 or more was defined as a normal response. RESULTS: The prestimulated and peak cortisol levels at 0800 h (377.5 +/- 93.3 and 729.1 +/- 183.2 nmol/l) were higher (P < 0.001 and P < 0.01) than those at 1600 h (230.1 +/- 75.7 and 665.8 +/- 138.6 nmol/l). However, a stimulated cortisol response of 500 nmol/l or more was observed at both 0800 h and 1600 h in all subjects at 30 min but not at 60 min. The [symbol: see text] (peak-basal) response was higher at 1600 h than that at 0800 h (432.8 +/- 136.8 vs 351.5 +/- 177.3, P < 0.01). INTERPRETATION & CONCLUSION: The demonstration of normal cortisol response to 1 microgram ACTH both at 0800 h and 1600 h suggests that the test can be performed at any time of the day.

Detección de la deficiencia de 21 hidroxilasa en su forma no clásica en una población argentina de 100 niñas con pubarquia precoz / Detection of non classical 21-O-Hase deficiency in an argentinean population of 100 girls with precocious pubarche

Antecedentes: el déficit no clásico de 21 hidroxilasa es una alteración de la esteroideogénesis adrenal que puede expresarse como pubarquia precoz en la infancia. Para analizar la prevalencia de ésta diferencia en una población argentina con pubarquia precoz, se estudiaron 100 niñas (edad cronológica: 6,55ñ1,62 años) con aparición de vello púbico antes de los 8 años de edad. Métodos: se evaluaron la talla, la edad ósea (EO) y el grado de desarrollo (Tanner). Se efectuó una prueba de estimulación adrenal con ACTH 0,25 mg i.v., determinando 17OH progesterona y cortisol basales y a los 60 min. Los resultados se compararon con el monograma de María New et al. Se midieron las concentraciones basales de sulfato de dehidroepiandrosterona (SDHEA), androstenediona (A), testosterona (T) y proteína ligadora de hormonas sexuales (SHBG). Resultados: clínicamente se distinguieron 2 grupos, 82 niñas con pubarquia precoz aislada (PPA) y 18 con pubarquia precoz asociada con hipertrofia de clítoris (PPH). Tres pacientes PPA y dos PPH presentaron concentraciones elevadas de 17OHP lo que permitió efectuar el diagnóstico de hiperplasia suprarrenal de comienzo tardío. El resto de las pacientes se diagnosticó como pubarquia precoz idiopática. Las concentraciones de T, A y SDHEA en las pacientes con pubarquia precoz idiopática estuvieron en los límites puberales normales, mientras que las concentraciones de SHBG se encontraron en el límite prepuberal. Conclusiones: en nuestra población estudiada se encontró un 5 por ciento de déficit no clásico de 21-hidroxilasa. Esto indicaría la necesidad de solicitar la prueba de estimulación con ACTH en niñas con pubarquia precoz para la detección de ésta deficiencia enzimática