congenital adrenal hyperplasia (cah) is a group of hereditary diseases, which are autosomal recessive. cah occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. in this article, we report a case of cah and schmid metaphyseal dysplasia. our literature review indicated that this report is the first attempt on cyp11b1 a...

a four day old female infant was admitted because of poor feeding, vomiting and jaundice. laboratory examination showed hyperkalemia, mild hyponatremia and renal tubular acidosis type 4. serum aldosterone and plasma renin activity were elevated but serum cortisol, 17 -hydroxyprogesterone, acth, 24 hour urinary 17- ketoste roid, pregnanetriol, renal function and sonogram were normal and hence ps...

In the 1960s Guthrie conceived idea of preventing congenital disease using dried blood spot samples on filter paper to detect them through biochemical tests and then be able treat environmental factors in time avoid devastating effect diseases. Uruguay started 1994 with detection hypothyroidism umbilical cord blood. 2007 it was extended Phenylketonuria Congenital Adrenal Hyperplasia, starting s...

Adrenal hypoplasia is an invariable finding in infants with anencephaly. Hypoplastic adrenal glands have been described in infancy associated with congenital hypoplasia of the pituitary gland (Mosier, 1956). S;kl (1948) was probably the first author to describe congenital adrenal hypoplasia unassociated with other congenital abnormalities, though he mentions some similar cases described by earl...

Congenital adrenal hyperplasia comprises a group of disorders resulting from defects in enzymes required for the synthesis of cortisol. The clinical presentation depends on the specific enzyme defect. We report a rare case of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. A 26-year-old female patient referred with hypertension and hypokalemia. She also had primary amenor...

The etiology and histogenesis of granular cell tumor are still debated. Granular cell tumor of the newborn is considered to be a different entity than the adult form of this lesion with different immunohistochemical features. We present a case of a rare gingival granular cell tumor in a newborn and review the literature. Gingival granular cell tumor must be clinically differentiated from terato...