CEDIE   05498
CENTRO DE INVESTIGACIONES ENDOCRINOLOGICAS "DR. CESAR BERGADA"
Unidad Ejecutora - UE
congresos y reuniones científicas
Título:
Transient abnormalities in brain MRI in a newborn with X-linked congenital adrenal hipoplasia.
Autor/es:
ANA TANGARI; SANDRA VERÓNICA TILITZKY; KARINA KESLER; GRACIELA DEL REY; ROXANA STRATICO; VIVIANA SANCHEZ; FABIAN VERA; ANDREA GROSSE; FELIX RIEPE
Lugar:
Milán
Reunión:
Congreso; 9th Joint Meeting of Paedriatic Endochrinology; 2013
Institución organizadora:
ESPE-PES-APEG-APPES-ASPAE-JSPE-SLEP.
Resumen:
The patient came from the south of the country, to be study because of hypoglycemia, He is   5 yrs old,   he had mental retardation, which was evident since first year of life. He stopped walking since 3 yrs old.  He was born from healthy unrelated parents. No controls were performed during gestation, no reports of exposition to toxics or viral infections during it.  The delivery was normal. Because of lower levels of cortisol, doctors in the south treated him with hydrocortisone: 60 mg/m2 and after that the patient was referred to Buenos Aires. In the physical examination, pigmentation was noted, normal genitalia  with intrascrotal testes and normal penis, low stature. We lower the dose to physiologic range an after a few days,  during 12 hours withdrawal of the hydrocortisone, the cortisol was 0.1 ug/dl  (7-25) very low with ACTH > 2000 pg/ml (7-63)   we saw hyponatremia (lowest value: Na 118 mEq/l), and high levels of K: 8 mEq/l. Renine > 500 uUI/ml (NV 2.8-39.9). Aldosterone  <25  pg/ml (<160). 17oh-progesterone still in process. Triglycerides 678 mg/dl (<150)  creatine kinase 2990 U/l (< 190). Delay bone age (4- 6/12) for chronologic age  (5 -10/12).  Brain MRI was normal, we rule out HIV and tuberculosis. Adrenal US was failed to detect the glands, no pathology in the area had been found. Still in process are the determination of  Very long chain fatty acid. High resolution karyotype, anti adrenal antibodies are in process too. We are thinking in a X linked adrenal hypoplasia  with contiguous gene deletion.