congenital maternal hyperplasia ( cah ) is a group of autosomal recessive disease in which dysfunction of one of the five cortisol coding genes occurs and causes enzymatic defects in cortisol synthesis cycle from cholesterol . the most common form of the disease is 21-hydroxilase deficiency , which accounts for 90 - 95% of the cah cases . in the 1950 s , it was found that there were a small group of patients that developed hypertension and responded to glucocorticoid . clinical manifestations of 11- - hydroxilase deficiency include , hypertension ( roughly occurs in 75% of patients and generally diagnosed during childhood ) and other signs related to overproduction of mineralocorticoids such as hypokalemia or muscle weakness , salt loss , and virilization . signs of androgen excessive secretion include early closure of the epiphysis ( short stature ) . the hypothalamic - pituitary - gonadal axis might cause amenorrhea or spermatogenesis disorders or hirsutism and acne . schmid type is an autosomal dominant skeletal dysplasia in which the commonest form is metaphyseal chondrodysplasia . the schmid metaphyseal chondrodysplasia is characterized by short stature , but bone maturation process is normal . however , bowed legs , coxa vara , and specific metaphyseal changes are seen on radiographs . in this article , we report a case of a 4-year - old boy with cah and schmid metaphyseal chondrodysplasia . our literature survey confirmed that it is the first reported case of coexistence of these two rare diseases . a 4-year - old boy with increased amount of pubic hair was referred to the children s endocrinology clinic . he was the first child of a family with normal growth and development until one year after birth . his parents were not related and there was no positive familial history . an increase in pubic and axillary hair developed four months later , he was treated for cah with 5 mg hydrocortisone , three times a day . another problem with this child was gait disorder and bowed knee ( figure 1 ) . there was a similar history with his cousin , considering that the cousin was affected by skeletal dysplasia . bowed knee in the patient with congenital adrenal hyperplasia . on clinical examination , doc level was 543 ( ng / ml ) and acth , dhea , 17-ohd , testosterone and androstenedione levels were higher than the normal limits . biochemistry tests such as bun , cr , na , p , k , and alkp were normal . laboratory test results radiological examination ( plain plantar view and knee radiography ) estimated the bone age to be about 10 years and 3 months . finally , the patient was treated for precocious puberty due to 11- - hydroxilase deficiency and schmid metaphyseal chondrodysplasia . after 5 months , testosterone level decreased to lower than 10 ng / dl and dhea reached 27 mcg / dl . schmid type metaphyseal chondrodysplasia is an autosomal dominant disorder and can be caused by various mutations in the col10a1 gene . its diagnosis is hard due to the rarity of the disease and its similarity to rickets , particularly vitamin d resistant type . however , rickets and schmid can be differentiated with normal bone density and irregular dense zone in schmid chondrodysplasia . in our case , schmid metaphyseal chondrodysplasia was considered by clinical manifestation and was confirmed with radiology and laboratory tests . bowed knee was the dominant characteristic sign and bone related biochemical tests such as ca , p and alkp were normal . the most important point in schmid disease is that over - treating by vitamin d , which can lead to toxicity , must be avoided . in some cases , congenital adrenal hyperplasias are a group of metabolic disorder diseases that lead to enzymatic defects in the biosynthesis of cortisol from cholesterol . clinical features of 11--hydroxylase deficiency in childhood might be premature pubarche and accelerated bone age , all of which occurred in our patient . the exact diagnosis of 11--hydroxylase deficiency can be performed by the high basal levels of deoxycorticosterone and or 11-deoxycortisol serums or tetra - hydrometabolites , which might be found during a 24-hour urine test . this disorder should be considered in patients with elevated serum levels of acth , about three times higher than the 95 percentile predicted for patient s age . its prevalence is 1 in 100,000 population and can be presented during childhood or adolescence . because of familial marriage in iran , cah incidence is high . according to a study by qaemi et al , rohani showed that precocious puberty could be a manifestation of non - classical form of cah and its early diagnosis and treatment is important . in some cases , . long - term complications of adrenal hyperplasia are short stature , infertility , gender identity disorders , and death . female neonates with ambiguous genitalia and male with precocious puberty are in the highest risk category to develop htn because of the high secretion of deoxycorticosterone ( doc ) . in our patient , mild htn was present . although cah can be associated with other genetic disorders , but this is the first report on the association between cah and schmid metaphyseal chondrodysplasia . 11--hydroxylase deficiency is a rare disorder and must be considered in patients with precocious puberty and secondly presented with hypertension .
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 and schmid dysplasia in a child . 
 the specific diagnosis of 11--hydroxylase deficiency can be determined using high basal levels of deoxycorticosterone and/or 11-deoxycortisol serums .