We present a girl with achondroplasia and enchondromatosis. Coexistence of these two disorders has, to the best of our knowledge, not been reported previously.

A simplified urinary marker analysis for diagnosis of congenital adrenal hyperplasia (CAH) and 5α-reductase deficiency in infancy by GC/MS-SIM is introduced. The analysis was performed in 161 patients aged 3-90 days, 99 females and 62 males. CAH due to 21-hydroxylase deficiency was diagnosed in 61 patients (42 females and 19 males; in 10 cases simple virilizing form and in 51 patients salt-wasting form) and CAH induced by 3β-hydroxysteroid dehydrogenase deficiency without salt loss in 1 female patient. In 2 full-term newborns and 6 preterm infants, a false-positive diagnosis of CAH, which had been based on serum steroid evaluation, was made. In these cases, increased excretion of fetal adrenal zone steroids was confirmed as a possible source of false-positive serum 11-deoxycortisol and 17α-hydroxyprogesterone values. Lack of fetal adrenal zone steroid metabolites in 2 male newborns with salt loss symptoms led to the diagnosis of adrenal insufficiency due to X-linked adrenal hypoplasia and adrenal hemorrhage. A single analysis of urinary CAH markers by the very sensitive and selective GC/MS-SIM method can replace numerous assays of various steroids that must be carried out for positive diagnosis of abnormal steroidogenesis in infancy.

Triiodothyronine concentration in extracted human, cow's and formula milk was measured. The highest concentration (mean ± SD = 1.56 ± 1.34 nmoljl) was found in cow's milk and lowest (0.99 ± 0.38 nmol/1) in formula milk. Thyroxine was not detected in any sample of milk. The scatter of obtained values for T3 was highest also in cow's milk. It seems possible that milk from same cows may to certain extense mitigate neonatal hypothyreoidism.