Hiperplasia suprarrenal congénita y mielolipoma: a propósito de un caso / Congenital adrenal hyperplasia and myelolipoma: a case report

Objetivo: Presentar caso clínico de paciente con hiperplasia suprarrenal congénita (HSC) y mielolipoma bilateral, debido a su baja incidencia en la población. Caso Clínico: Paciente femenina de 32 años, con diagnóstico de HSC clásica perdedora de sal en tratamiento regular con glucocorticoides y mineralocorticoides hasta los 14 años. En febrero 2012 presenta aumento progresivo de circunferencia abdominal, a los 2 meses, dolor punzante en ambos flancos, de leve a moderada intensidad, no irradiado, por lo cual consulta. Laboratorio: ACTH: 102 pg/ml (hasta 37); 17 OH progesterona: 20,47 mg/ml (0,2-2,9); Testosterona libre: 7,6 pg/ml (0.01-7.01); Androstenediona: 26,1 ng/ml (0,94-3,2); DHEA-SO4: 53,7 μg/dl (65-368). Se realiza tomografía axial computarizada de abdomen evidenciando lesión ocupante de espacio en ambas glándulas suprarrenales. Derecha: 16,4x14,2x12,2 cm, izquierda: 20x13x11,2 cm, ambas de densidad heterogénea, sugestivas de mielolipomas. Se realiza laparotomía media xifopúbica en enero 2013 con adrenalectomía bilateral, tumor izquierdo de 1400 g y derecho de 1200 g. La biopsia reportó mielolipomas bilaterales. Conclusión: Tanto la HSC como los mielolipomas son patologías poco frecuentes, pueden estar asociadas en pacientes con HSC clásica que cumplen tratamiento irregular o lo omiten. Los mielolipomas representan aproximadamente el 11% de los tumores adrenales. La incidencia varía desde 0,08 a 0,4%, la edad media de presentación es 50 años. El sexo masculino predomina en una proporción 2:1. La mayoría son unilaterales, solitarios y pequeños. Debido a la baja incidencia de mielolipomas, la forma de presentación de la paciente y su asociación con HSC clásica, se trae a revisión.

Objective: To describe the case of patient with congenital adrenal hyperplasia (CAH) and bilateral myelolipoma at presentation, due to its low incidence in the population. Clinical case: Thirty-two year old female patient, with a diagnosis of classic congenital adrenal hyperplasia with salt-wasting adrenal, on regular treatment with glucocorticoids and mineralocorticoids until 14 years of age. On February 2012, she presents progressive increase of abdominal circumference, 2 months later stabbing pain in both flanks, from mild to moderate intensity, with no irradiation, reasons for medical consultation. Lab test: ACTH: 102 pg/ml (until 37); 17OH progesterone: 20.47 mg/ml (0.2-2.9); free testosterone: 7.6 pg/ml (0.01-7.01); androstenedione: 26.1 ng/ml (0.94-3.2); DHEA-SO4: 53.7 μg/dl (65-368). An abdominal CT-Scan is preformed and a space-occupying lesion on both adrenal glands is observed. Right: 16.4x14.2x12.2 cm, left:20x13x11.2 cm, both have heterogeneous density, suggestive of myelolipoma. A midline xyphopubic laparotomy is performed on the patient in January 2013, with bilateral adrenalectomy, with the left tumor of 1400g and the right one of 1200g. The biopsy reported bilateral myelolipomas. Conclusion: CAH and myelolipomas are both very infrequent pathologies that may appear together in patients with classic CAH diagnosis associated to irregular or complete abandonment of treatment. Myelolipomas represent approximately 11% of adrenal tumors. Their incidence varies between 0.08% and 0.4%, with median age presentation at 50 years. Male sex is predominant (2:1). Most are unilateral, solitary and small. Due to myelolipomas low incidence, its form of presentation in this patient and its association with CAH, this case is being reviewed.

Síndrome metabólico en niñas púberes con hiperplasia suprarrenal congénita clásica / Metabolic syndrome among puberal girls with classic congenital adrenal hyperplasia

Background: Adult women with adrenal congenital hyperplasia (AH) have a higher risk for insulin resistance, dyslipidemia, hypertension, high body mass index (BMI) and increased body fat. All these factors are associated with cardiovascular risk and metabolic syndrome (MS). Aim: To evaluate the presence of MS in pubertal classic AH girls (CAH) and a control group (C). Material and Methods: We studied 15 pubertal AH patients (12.0 +/- 1.9 years) and 26 controls (11.7+/- 0.3 years) matched by age and tanner stage. Weight, height, BMI, waist/hip ratio, blood pressure and serum lipids were measured. An oral glucose tolerance test (OGTT) and insulin curve was performed in CAH girls whereas in controls basal insulin and glucose were determined. The homeostasis model assessment for insulin resistance (HOMAIR) was calculated. Cook, Ferranti and international diabetes federation (IDF) criteria were used to determine the presence of MS. Results: CAH and C girls had similar BMI (22.0 +/- 5.1 and 20.1 +/- 3.6 kg/m2 respectively; p = 0,11). CAH girls had higher basal blood glucose (80.8 +/- 7.7 and 60.6 +/- 10.6 mg/dl respectively, p < 0.01) and controls had higher triglyceride levels (147.0 +/- 69.3 and 79.7 +/-16.3 mg/dl respectively, p < 0.01) and lower HDL cholesterol levels (45.8 +/- 12.8 and 56.9 +/- 17.5 mg/dl respectively, p = 0.02). According to cook criteria 4 percent of CAH girls and 23 percent of controls has MS. These figures were 14 and 32 percent respectively according to Ferranti criteria and 0 and 5 percent respectively according to IDF criteria. Conclusions: CAH puberal patients do not have a higher prevalence of metabolic syndrome, compared with controls with similar Tanner stage and BMI.

Hirsutismo: diagnóstico diferencial / Hirsutism: differential diagnosis

O hirsutismo é um dos sinais das síndromes hiperandrogênicas. Uma abordagem prática consiste em dividir as síndromes hiperandrogênicas em virilizantes e não virilizantes, de acordo com a presença ou ausência de sinais de virilização. Um caso de uma paciente com hirsutismo e com uma concentração basal e após estímulo com ACTH(1-24) elevada de 17-OHP é discutido. A ausência de sinais de virilização e a história clínica tornavam pouco prováveis etiologias como neoplasias virilizantes e a hipertecose de ovário. Dentre as causas das síndromes não virilizantes, a presença de distúrbio menstrual e hiperandrogenemia descartou o hirsutismo idiopático. De acordo com o Consenso de Rotterdam, considerou-se o diagnóstico de síndrome dos ovários policísticos, procedendo-se à exclusão da forma não clássica da hiperplasia adrenal congênita por deficiência da 21-hidroxilase. A concentração de 17-OHP após estímulo foi de 14 ng/dL, sendo que, na dependência do limite de corte considerado, seria compatível com esta doença. Embora a região promotora do gene não tenha sido estudada, do ponto de vistas prático pode-se considerar que este diagnóstico tenha sido excluído, uma vez que mutações nessa região são raras.

Hirsutism is one of the manifestations of the hyperandrogenic syndromes. A practical approach consists of dividing the hyperandrogenic syndromes into virilizing and non-virilizing, in accordance to the presence or absence of virilization symptoms. A case of a patient with hirsutism and a high basal and post-ACTH stimulation concentration of 17-OHP is presented. The absence of virilization and of clinical history discarded as etiology the virilizing neoplasias and hiperthecose of the ovary. Among the causes of non-virilizing syndromes, the presence of the menstrual disturbance and hiperandrogenemia discarded idiopathic hirsutism. In accordance to the Consensus of Rotterdam, the diagnosis of polycystic ovary syndrome was considered. For to exclude the non classic form of congenital adrenal hyperplasia due to 21-hidroxilase deficiency, the patient was submitted to a short ACTH-(1-24) stimulation test. The 17-OHP concentrations after stimuli were 14 ng/dL, being that, in the dependence of the limit of considered cut-off, it would be compatible with this illness. Although the promoter region had not been studied, we can consider that this diagnosis was excluded through the sequencing of CYP21A2 gene, since mutation on the promoter region is a rare event.