ESPE Abstracts (2016) 86 P-P1-43

ESPE2016 Poster Presentations Adrenal P1 (48 abstracts)

Severe Hypertension in a Girl: Cushing Syndrome or Apparent Mineralocorticoid Excess Syndrome? Utility of Molecular Study

Claudia Godoy a, , Cristian Seiltgens a , Carlos Fardella a , Patricia Lacourt b , Constanza Pinochet a & Cristian Carvajal a


aUniversidad Catolica de Chile, Santiago, Region Metropolitana, Chile; bComplejo Asistencial Dr. Sótero del Río, Santiago, Region Metropolitana, Chile


Background: Apparent mineralocorticoids excess syndrome (AME) is an unusual cause of hypertension, caused by genetic mutation of type 2 11β-hidroxysteroid desydrogenase (11BHSD2) enzime, which metabolizes cortisol(F) to cortisone(E). Patients with AME born from consanguineous parents, are small for gestagional age (SGA) and could have nephrocalcinosis, hypokalemia and high plasma cortisol/cortisone relation (F/E).

Objective: To tell the clinical and laboratory presentation of a girl with hypertension because of AME.

Clinical case: 2-year-old girl with severe hypertension (197/133), requiring four drugs to control partially her blood pressure. Fullterm SGA newborn. Second daughter of normotensive parents who are first degree cousins; she has a normotensive sister. She had recurrent pneumonia and hypertrophic myocardiopathy. Physical exam: normal; no Cushing signs. Hypertension study: Renal US: bilateral nephrocalcinosis, no arterial stenosis; normal renal function. High urine calcium/creatinine index. Aldosterone: <1 (reference value (RV): 5-80) and plasmatic renin activity:<0.2 ng/ml/hr (RV1.1-3.8). Urinary free cortisol in 24-hour (two samples) resulted elevated: 1413 years 262 ug/g creatinine (RV:7-26); midnight plasmatic cortisol: 3.8 ug/dl (RV <0.1); morning cortisol was not supressed post 23-h dexhametasone administration; nocturnal salival cortisol was 0.132 and 0.146 ug/dl (RV: <0.1 ug/dl) in two different samples. ACTH: 33 pg/ml (RV:10-60); F/E relation: 175.5 (RV: 1.7-5.6). Urinary catecholamines, urinary metanephrines; androstenedione; 17OH progesterone, prolactine and thyroid hormones were normal. Head and abdominal MRI: normal. 11BHSD2 genetic study was performed and showed the mutation R213C on exon 3, confirming AME.

Conclusion: Although AME is a really unusual disease it must be considered in the differencial diagnosis of severe hypertension in childhood when the clinical record is compatible. AME has normal levels of cortisol, therefore the biochemical hypercortisolism difficulted the diagnosis in this patient, but molecular study helped to do the correct diagnosis.

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