Introduction: CONGENITAL ADRENAL HYPERPLASIA ((CAH)) is an autosomal recessive disorder caused by any of the enzymatic steps required to synthesize ADRENAL hormones. Depending on the enzymatic step that is deficient, there may be clinical and laboratory finding. The aim was to evaluate. The epidemiology and clinical finding of (CAH).Material and Methods: The clinical and laboratory characteristics of 68 patients with (CAH) who were managed in the pediatric Endocrinology unit of Imam Reza Hospital during 7 years were recorded in this study the clinical and, epidemiological characteristics of CONGENITAL ADRENAL HYPERPLASIA were evaluated in 68 patients admitted Imam Reza Hospital in Mashed, also on patient has been followed in endocrine and metabolism pediatric clinic in this time, during 6 years retrospectively and 1 year prospectively.Results: Parental consanguinity rate among families of patients was higher than the general population in Mashad (73.8% vs 30%). In 44.6% of patients the history of disease was positive in sibling. 52.2% of patients were males and 47.8% females. 21- Hydroxylase deficiency was present in 60 patients (88.2%), salt -losing form in 40(66.7%) and simple virilizing form in 20 (33.3%) of them. 11- β hydroxylase deficiency was presents (10.3%). Also one case of 3- β OHSD was reported.The median chronological age at diagnsis in sall- losing form was 75 and 85 days in boys and girls; in simple - virilizing form were 46 and 43 months in boys and girls. 14 of girls were considered to be male before diagnosis was established.Conclusion: This study underscores the necessity for prospective neonatal screening, so that the benefits of early diagnosis and treatment can be realized.In addition the incidence of (CAH) is expected to be high due to a high rate of consanguinity in our population, here genetic counseling before marriage is beneficial in our population.

CONGENITAL ADRENAL HYPERPLASIA ((CAH)) is an of autosomal recessive disorder of ADRENAL steroidogenesis leading to a deficiency of cortisol.The deficiency of cortisol results in increased secretion of corticotropin which, in turn leads to adrenocortical HYPERPLASIA and overproduction of intermediary metabolites. In 90% of the cases, with this disease, there is a problem with the enzyme 21 hydroxylase (21 OHD). Severe and mild forms of these disorders, caused by variations in the severity of the genetic mutations have been reported. Depending on the enzymatic step that is deficient, there may be signs, symptoms and laboratory findings of mineralocorticoid deficiency or excess; incomplete virilization or premature androgenization of the affected male and virilization or sexual infantalism in the affected female. It appears that this disease is more prevalent in Iran because of the custom of family marriages, however its exact prevalence needs correct diagnosis and documentation of cases. In this article the process of the disorders, diagnosis and treatment will be discussed.

Background and Aim: CONGENITAL ADRENAL HYPERPLASIA ((CAH)) is an autosomal recessive disorder with an incidence of 1/15000, which is sometimes called the adrenogenital syndrome. This disorder which occurs during fetal development is a consequence of inborn errors in cortisol biosynthesis. Compensatory overproduction of ACTH by the fetus to overcome cortisol deficiency produces hyperplastic but inefficient ADRENAL cortices. More than 90% of cases result from mutations of CYP 21 gene, leading to 21- hydroxyllase deficiency, which is essential not only for cortisol biosynthesis but also for aldosterone formation.Deficient or excessive mineral corticoid production is the other major clinical problem associated with (CAH) syndrome. The distinctive clinical features of the (CAH) syndrome result from inappropriate production of both sex steroids and mineral corticoids.In its classical form, (CAH) is severe and consists of the virilizing (increase of androgens) and salt wasting (lack of aldosteron) phenotype. When a probond exists, early prenatal diagnosis for (CAH) can be performed by direct molecular analysis in the first trimester.Case Report: In recently reported case, the patient is a 10 year old young boy whose parent's chief complaint was unerupted maxillary right central incisor. After taking a complete history the patient was diagnosed with (CAH). His 18 year old sister was affected too. Up to now, there has been no report regarding the oral and dental status of these patients in the literature. It is probable that delayed eruption and root formation of some teeth can be related to either this CONGENITAL disorder or drug consumption.

BACKGROUND AND OBJECTIVE Lipoid CONGENITAL ADRENAL HYPERPLASIA (L(CAH)) is the most severe form of ADRENAL HYPERPLASIA and mutations in the StAR gene are the most common cause of the disease. ADRENAL insufficiency and cholestasis are reported in few patients. The aim of this study was to report the results of treatment of two sisters with lipoid (CAH) and cholestatic jaundice. CASE REPORTS: Here, we present two sisters at the age of 30 and 60 days with conjugated hyperbilirubinemia and elevated liver enzymes and ADRENAL insufficiency. They had a 46, XY karyotype with external female genitalia without uterus and ovaries. L(CAH) was detected through electrolyte abnormalities, increased ACTH, decreased levels of cortisol and sex hormones and was confirmed by determination of exome sequencing and Sanger sequencing. In these patients, a homozygous mutation (c. 653C>T) in exon 6 of STAR gene was identified. The patients were treated with 10 mg of hydrocortisone IV every 8 hours for 3 days,oral hydrocortisone was then administered at a dose of 2. 5 mg every 8 hours and 0. 2 mg fludrocortisone daily. One month after the therapy, levels of bilirubin and liver enzymes of these patients became normal. The first patient died 7 months after her mother stopped giving the drugs to the child. The other patient is now 9 years old. She is in good clinical condition as her treatment goes on. CONCLUSION Considering the reported cases, ADRENAL lipoid HYPERPLASIA should be considered as a rare cause of cholestasis with ADRENAL insufficiency in patients.

Males with CONGENITAL ADRENAL HYPERPLASIA ((CAH)) are often diagnosed later compared to females. Affected male infants without a sign of ambiguous genitalia are particularly prone to the occurrence of ADRENAL crisis. The misdiagnosis or delay in (CAH) treatment in males contributes significantly to morbidity and early death. This case report aims to report a case and increase the (CAH) awareness in male infants with ADRENAL crisis. A 40-day-old male infant was brought to the Emergency Department with vomiting, shortness of breath, poor feeding, drowsiness, and weight faltering. The physical examination revealed signs of dehydration, hypotension, and hyperpigmentation on the areola and genitalia. The laboratory results showed hyponatremia, hyperkalemia, and metabolic acidosis. The diagnosis was confirmed by clinical manifestations and elevated 17- OH Progesterone (17-OHP). The management was treating the dehydration and administering hydrocortisone in stress dose. Hydrocortisone, fludrocortisone, and sodium chloride supplementation were also given as maintenance therapy. Genetic counseling should be encouraged during the prenatal period. Well management and treatment in patients with (CAH) is important to attain normal growth and development.