Endocrinology andauxology ofsibships with non-classical congenital adrenal hyperplasia

The symptoms,auxological characteristics, andstimulated 17-hydroxyprogesterone(17-OHP)concentrations in a group of patients withnon-classical 21-hydroxylase deficiency (NCCAH)were compared withthoseoftheir siblings. Ten indexcasesconsisting ofninefemales and onemalepatient aged3-33yearsand16 siblings werestudied. Inthesibling group fivesubjects wereslightly virilised andof these, twofemaleswerefoundtohave NCCAH according to theirstimulated 17-OHPconcentrations. The remaining ninesiblings, whowerenotvirilised, all hadnormalstimulated 17-OHPconcentrations. Amongthetotal NCCAH group (index casesandaffected siblings) eight patients hadthediagnosis madewithin twoyearsoftheonsetofsymptoms.In fourpatients diagnosis wasdel:yed until adulthood. Insevenpatients investigated, bone age was significantly increased beforetreatment. Themean height and bodymassindexZ scoresoftheaffected patients asatotal grouporwhendivided according toskeletal maturity werenot significantly different from eitherthe normalmean or fromtheirunaffected siblings. Virilised siblings ofpatients with NCCAH shouldhavestimulated 17-OHP levels measuredtoexclude thedisease. Patients withNCCAH donotappeartobe at riskofshortadultstaturedespite increased boneageinchildhood. (Arch DisChild 1996; 74:406-41 1)