congenital adrenal hyperplasia ( cah ) refers to a group of autosomal recessive disorders caused by an enzyme deficiency which leads to defects in biosynthesis of steroid precursors .
depending on the severity and degree of 21 hydroxylase deficiency , the clinical spectrum may vary from mild form of non classical cah to classic cah .
however , the non classical cah variant is more common with a prevalence rate of 1 in 1000 .
it also helps in maintaining normal levels of precursors by suppressing adreno cortico trophic hormone ( acth ) . during childhood
, the management is largely focused on achieving normal growth and attaining appropriate final adult height .
johns medical college hospital , bangalore by the department of endocrinology on patients diagnosed to have cah and seen in the outpatient clinic between january 2012 and october 2012 . during this period
data regarding demography , clinical presentation at time of diagnosis , treatment details , height sds and bmi were collected .
all patients underwent biochemical testing for 17 hydroxy progesterone ( 17 ohp ) levels for assessment of adequacy of therapy . bone age assessment with left hand and wrist
bmi was calculated for all patients and obesity was defined using who charts as values above 95th percentile .
17 ohp levels between 1 ng / ml and 12 ng / ml were considered appropriate ; values below 1 ng / ml suggested suppression and over treatment and values above 12 ng / ml suggested under treatment .
29 patients were included in the study of which 22 were females ( 76% ) and 7 were males ( 24% ) . based on the cross sectional data collected , 11 patients were adults ( age > 18 ) and 18 patients were children ( 62% ) . among the males ,
one child was identified at birth via a neonatal screening program , one child presented with early pubarche , the other 5 infants presented between their 3rd and 6th week of life with features suggestive of adrenal crisis - poor feeding , vomiting and failure to gain weight .
one of the male patients incidentally also had a penoscrotal hypospadias which was surgically corrected . among the females ,
9 infants were identified at birth due to presence of genital ambiguity ( 40% ) , 1 presented with symptoms of adrenal crisis at 4 weeks of life , 4 patients presented in the pre pubertal period due to early onset adrenarche ( 18% ) , 5 patients presented in the late adolescent period with marked virilization ( 23% ) and 3 patients presented with features of poly cystic ovarian disease ( pcos ) .
all the five patients who presented in the late adolescent period had obvious genital ambiguity from birth , however , they sought medical attention only much later due to marked virilization and failure to attain menarche .
one among them had actually been evaluated and even underwent a clitoroplasty at a young age , but unfortunately , the diagnosis of cah was missed as she was mistakenly categorized as probable ovo testicular dsd due to presence of mullerian structures with a phallic length of around 6 cm .
all these 5 women had a masculine built at presentation with poor breast development , severe hirsutism , muscular body habitus , temporal balding and varying degrees of deepening of voice .
the non classical cah ( nccah ) patients presented in adulthood with complaints of irregular cycles and hirsutism ; they had no features of virilisation .
simple virilizing was the most common sub class seen among the women ( 81% ) whereas the salt wasting type was predominant among boys ( 85% ) .
around 35% of patients had short stature as defined by height sds < -2.0 ; 2 patients who presented with adrenarche had increase in height sds , however , their bone age was also correspondingly advanced .
all the children were treated with hydrocortisone ; almost all adult patients were on dexamethasone .
none of the nccah patients were treated with glucocorticoids ; they were on anti - androgen therapy along with oral contraceptive pills .
most adult classic cah patients with complaints of hirsutism were treated with either spironolactone or finasteride .
pubertal induction with ethinyl estradiol was initiated for three of the adult patients who sought medical care late .
analysis of 17 ohp levels revealed that 32% were suppressed with levels less than 1ng / ml ; appropriate in 47% and inadequate in 21% of patients .
we report the phenotypic features of a cohort of patients with cah being evaluated and managed in a tertiary centre in southern india . in this series ,
the typical presentation of male babies were with adrenal crisis between the 3 and 6 week of life . around 20% of female patients with classic cah
were identified and appropriately treated only after late adolescence even when genital ambiguity was present since birth .
short stature was seen in one third of patients on therapy and the average final adult height among patients with classic cah was 142.37 , which was significantly lower than the mean adult height for females in our population .
the mean final adult height of 157.5 cm for those with nccah was better than their classic cah counterpart .
obesity and hypertension were not found to be significantly higher in this cohort of cah patients .
one third of patients had suppressed 17 ohp levels suggestive of over replacement therapy which may also contribute to the reduction in the final adult stature .
 congenital adrenal hyperplasia is a group of autosomal recessive disorders caused by enzyme deficiency which leads to defects in biosynthesis of steroid precursors . 
 most common is 21 hydroxylase deficiency . 
 clinical spectrum varies from non - classical cah to classic cah , and it may be simple virilising form or salt - wastinfg type . 
 29 patients were included in our study from january 2012 to october 2012 . 
 76% were females . 
 male babies typically presented with adrenal crisis between 3rd to 6th week of life . around 20% of females 
 were identified and appropriately treated only after late adolescence . 
 short stature was seen in 1/3rd of patients . 
 1/3rd of patients had suppressed 17 ohp levels suggestive of over - replacement therapy which may contribute to final reduction in adult height . 
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