Adrenomedullary Function in Cohort of Brazilian Pediatric Patients with Classic Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia is a group of autosomal recessive disorders resulting from deficiency of enzymes essential for the synthesis of cortisol. Disease of the adrenal cortex, but there may be involvement adrenomedullary. Cortisol and epinephrine are directly related to the individual’s stress response. Lower values of epinephrine in children with congenital adrenal yperplasia could be related to increased clinical complications and hospitalizations rate. We evaluated the serum values of metanephrines and normetanephrines in children and adolescents with classic congenital adrenal hyperplasia and primary hypothyroidism and possible correlations with disease and hospitalizations. Cross-sectional study involved 29 patients (10 simple virilizing and 19 salt-wasting), and control group of 28 patients with primary hypothyroidism (10 overt and 18 subclinical). There were no differences in age (p = 0.24) and metanephrine (p = 0.34) or normetanephrine values (p = 0.85) between groups.Hospitalization rate was higher in the cases than in the controls (51 x 12).We conclude the serum values of metanephrine and normetanephrine in patients with congenital adrenal hyperplasia were within the normal values of reference, with no significant difference of group with primary hypothiroidism. The number of hospitalizations in the case was high in relation to the control, mainly in salt-wasting

Bone Mineral Density in Children and Adolescents with Congenital Adrenal Hyperplasia

Chronic glucocorticoid therapy is associated with reduced bone mineral density. In paediatric patients with congenital adrenal hyperplasia, increased levels of androgens could not only counteract this effect, but could also advance bone age, with interference in the evaluation of densitometry. We evaluate bone mineral density in paediatric patients with classic congenital adrenal hyperplasia taking into account chronological and bone ages at the time of the measurement. Patients aged between 5 and 19 years underwent radiography of the hand and wrist followed by total body and lumbar spine densitometry. Chronological and bone ages were used in the scans interpretation. In fourteen patients, mean bone mineral density Z-score of total body to bone age was −0.76 and of lumbar spine to bone age was −0.26, lower than those related to chronological age (+0.03 and +0.62, resp.). Mean Z-score differences were statistically significant (P=0.004 for total body and P=0.003 for lumbar spine). One patient was classified as having low bone mineral density only when assessed by bone age. We conclude that there was a reduction in the bone mineral density Z-score in classic congenital adrenal hyperplasia paediatric patients when bone age was taken into account instead of chronological age

Septo-optic dysplasia Displasia septo-óptica

Septo-optic dysplasia (SOD), also referred to as de Morsier syndrome, is a rare congenital condition, characterized by two of the classic triad features: midline brain abnormalities, optic nerve hypoplasia (ONH) and pituitary endocrine dysfunction. We report 5 children with SOD, originally referred to be evaluated due to short stature, who also presented bilateral optic nerve hypoplasia, nystagmus and development delay. In 4 of the patients, we identified neuroimaging abnormalities of the hypothalamo-pituitary axis such as anterior pituitary hypoplasia (3/5), ectopic posterior pituitary (4/5), thin or absent stalk (3/5) and empty sella (1/5). We also encountered diverse pituitary deficiencies: growth hormone (3/5), adrenocorticotropic hormone (3/5), thyroid-stimulating hormone (2/5) and antidiuretic hormone (1/5). Only one child presented intact pituitary function and anatomy. Although rare, SOD is an important cause of congenital hypopituitarism and it should be considered in children with optic nerve hypoplasia or midline brain abnormalities for early diagnosis and treatment.A displasia septo-óptica (DSO, síndrome de Morsier) é uma condição congênita rara definida por dois critérios da tríade: defeitos de linha média, hipoplasia de nervo óptico e insuficiência hipotálamo-hipofisária. Descrevemos 5 casos de DSO, encaminhados por baixa estatura, com hipoplasia dos nervos ópticos, nistagmo e atraso global do desenvolvimento. Destes, 4 possuem alteração na ressonância magnética de sela túrcica e insuficiência hipotálamo-hipofisária, tendo sido observada adeno-hipófise hipoplásica (3/5), neuro-hipófise ectópica (4/5), haste afilada/ausente (3/5) e sela vazia (1/5), além de déficit dos eixos somatotrófico (3/5), adrenocorticotrófico (3/5), tireotrófico (2/5) e do hormônio antidiurético (1/5). Apenas um paciente não apresenta alteração anatômica ou funcional do eixo hipotálamo-hipofisário. Embora rara, a DSO é causa importante de hipopituitarismo congênito, devendo ser considerada em crianças com hipoplasia de nervo óptico ou defeito de linha média para seu diagnóstico e tratamento precoces, evitando seqüelas graves