Background: CYP21A2 gene mutations are responsible for more than 95% of Congenital Adrenal Hyperplasia (CAH) disorders with autosomal recessive inheritance. Most of these pathogenic mutations originate from the CYP21A1P, a neighboring pseudogene with 98% homology, due to unequal crossing over or gene conversion events. Mutation identification of the gene could be beneficial for accurate diagnosis and outcome prediction. Methods: Twelve unrelated patients with CAH diagnosis were recruited for genetic counseling. To ensure distinct amplification of the CYP21A2 gene rather than its pseudogene, the complete sequence of the gene was amplified through two overlapping fragments by specific primers. The entire sequences were screened by direct Sanger sequencing using new sequencing primers. Results: Only two pathogenic point mutations were identified. The c. 293-13C>G, also known as In2G, and the c. 955C>T mutations were found in 37. 5 and 33. 3% of alleles, respectively. One patient showed homozygous gene deletion. We also reviewed recent reports on CYP21A2 gene mutations in Iran. Conclusion: Evaluating the ethnicity-specific gene mutation data is significant for populations with diverse ethnic groups including the Iranian population. Although several common mutations have been reported as causative mutations among CAH patients, identifying only two common point mutations in Fars province would help prioritize exon sequencing and reduce the cost and time of genotyping.

bration-rotation and pure rotational data in the C2å+ ground state and electronic data from the A2II-C2å+ and B2å+-C2å+ transitions of CAH and CaD were used in the quantum-mechanical direct-potential-fit (DPF) analysis to determine an analytic potential energy function for the C2å+ ground state of CAH, and a radial correction function for the CaD isotopologue. The potential energy function for the C2å+ state reproduces all the observed energy levels of CAH and CaD within their experimental uncertainties. In addition, it follows theab initio potential very closely outside the data region, and has the theoretical long-range behavior near the asymptote.

Introduction & Objective: CAH and Cloaca are challenging malformations with various surgical techniques in the treatment, including the old Passerine technique and the new TUM technique, which we need to improve our knowledge of the long-term outcomes of patients with rare malformations, and recording of post operative complications will improve the surgical development of the surgical procedure. The aim of this study was to investigate the functional and cosmetic effects and complications of both TUM and Passerine vaginoplasty methods. Materials & Methods: A cohort study in female patients with two malformation Cloaca and CAH in the last 15 years that was carried out at the Tehran Bahrami Pediatric Hospital with two techniques of Passerine and TUM and with referring to patient records, clinical examinations and patient records, clinical examinations and Preoperative cystoscopy examination a post-operative under anesthetic examination, patients' information and complications including urinary incontinence and vaginal stenosis and inappropriate position of vaginal insertion and urethro-vaginal fistula were recorded. Results: 41 patients with an average age of 10. 86 years at the time of the study were included in two groups of 20 patients with the old technique (flap) and 21 with a new technique (TUM) in the study. All patients were female. Of the 41 patients, 23 Patients (56. 1%) had CAH, and 18 patients (43. 9%) had cloaca. The length of the common channel was 2. 5 cm in both groups and the mean age of the flap group was 3. 7 years and the TUM group was 5. 54 years. The mean follow-up of the flap group was 10 years and the TUM was 2. 8 years, and the duration of the flap surgery was 3. 37 hours TUM is 2. 1 hours and the duration of hospitalization is 3. 4 days for flap and TUM for 2. 2 days. There is a 2. 1 significant difference between the three variables of the follow up and the time of operation and the duration of hospitalization between the two techniques with P = 0. 001. In two of the complications, vaginal stenosis and inappropriate vaginal position were significantly different between the two groups, with P = 0. 001 and P = 0. 007 respectively. Conclusions: The findings of the present study indicate that TUM surgery is better in the results and the beauty and proper position of the vagina compared to the passerin method. Less frequent and faster hospital discharge and shorter duration of surgery, with a better appearance and more beauty in the TUM surgery, is one of the characteristics that the findings of this study support.

Background: Testicular adrenal rest tumors (TART) is there unspecified adrenocortical cells in the testis of patients with Congenital Adrenal Hyperplasia (CAH) and is similar to the hyperplastic adrenal glands and make testicular tumors that are known as Testicular adrenal rest tumor. These tumors are found frequently in adult man patients with CAH and are usually benign But due to tumor site in testicles, can lead to seminiferous tubule obstruction and gonadal dysfunction and infertility, therefore, early diagnosis and treatment of tumors is important. Due to the absence of exact statistics and studies to determine relative frequency Testicular adrenal rest tumor in patients with CAH and importance of early diagnosis of tumors in pediatric patients with CAH, This study was performed to determine relative frequency of testicular adrenal rest tumor in children with CAH.Methods: This study was a descriptive study that was performed in Al-azahra hospital in 1390. This study was performed on 44 patients with CAH under 20 years old. Height and weight and blood pressure was measured for each patient, also exact examination of testis and scrotum was done to diagnose of palpable mass. For all patients, ultrasound of testis was performed by an experienced radiologist. Assessment of patients was based on patient height and weight and serum level of 17 – hydroxyl progesterone. Finally, relative frequency of testicular adrenal rest tumor was evaluated in patient and its corelation with serum 17–hydroxy progesterone and dosage of medication and disease control rate and duration of disease was evaluated. The obtained data were analyzed by SPSS-18 software.Findings: The ultrasound exam results showed, TART was reported in 2 patients (4.5%) that in one of them, bilateral tumors was reported in the upper pole of both testis. and another tumor was visible in the Mediastinum of left testis. Both patients had type of salt loss. The average tumor size was 14 mm. None of the patients found palpable mass in the examination. Both patients with TART were in the age group 20-15 years old and patients with TART were under hormonal control and appropriate treatment. Serum levels of 17-hydroxy progesterone was less in patients with (TART) than patients without (TART). Any of 2 cases had impaired gonadal function.Conclusion: Testicular adrenal rest tumor (TART) occurs usually in severe forms of the disease (type of salt loss). Two cases with tumors (TART) in our study, were in the age group above 15 years old. It can be shown the correlation between duration of disease and prevalence of tumor. None of two cases found palpable mass in the examination. This can indicate that examination has not enough accuracy to detect tumor and is recommended for all patients, ultrasound be performed periodically.

Background & Objective: Congenital Adrenal Hyperplasia (CAH) includes a group of inherited diseases which are caused by enzyme defects in the synthesis of cortisol from cholesterol. It manifests itself in different forms like ambiguous genitalia, adrenal crisis in infants, precocious puberty in children, hirsutism, oligomenorrhea and infertility in adults. Although CAH is one of the most common endocrine congenital diseases, some patients are not identified, or may even die of adrenal crisis without being diagnosed. Considering the prevalence and diversity of clinical manifestations of CAH and numerous diagnostic problems, the objective of this study is to identify and determine the frequency of clinical manifestations and different types of CAH in order to introduce them to medical community and facilitate diagnosis of CAH and its early treatment. Method: In this observational-descriptive study, we observed the frequency of clinical manifestations and different types of enzyme defects in patients with CAH who had referred to the institute of endocrinology and metabolism during the period of 10 years from 1370-1380. Results: 19 patients including 11 girls (58%) and 8 boys (42%) were under examination. Patients were categorized into 3 groups; infants (5 boys and 5 girls), children (3 boys) and adults(6 girls). These patients had manifested ambiguous genitalia and/or adrenal crisis, premature puberty, acne and hirsutism respectively. The average age of girls and boys with salt loss type of CAH at the time of diagnosis was 17.3 and 43.5 days respectively. The most common clinical manifestations were ambiguous genitalia (42.1%), ambiguous genitalia and adrenal crisis (31.5%), acne and hirsutism(31.5%) and peripheral precocious puberty(15.7%). The incidence of different types of enzyme defects was 14 patients (73.7%) with 21-hydroxylase deficiency, 4 patients (21%) with 3-beta hydroxysteroid dehydrogenase deficiency and 1 patient(5.2%) with 11-hydroxylase deficiency. Conclusion: Congenital Adrenal Hyperplasia (CAH) should be taken into consideration in infants with ambiguous genitalia, hyponatremia and hyperkalemia and also in every boy with peripheral precocious puberty. The diagnosis of CAH is established in girls more and earlier than boys. The most common types of CAH in our patients were 21-hydroxylase deficiency, 3-beta hydroxysteroid dehydrogenase deficiency and 11-hydroxylase deficiency respectively. Therefore, for an early diagnosis and prevention of infants death (especially boys) due to adrenal crisis, incorrect gender assignment and inappropriate virilisation, neonatal screening and greater awareness of medical community about the disease seem to be necessary.

Introduction: Hirsutism is a common disorder of excess growth of terminal hair in an androgen-dependent male distribution in women, including the chin, upper lip, breasts, back, and abdomen. It is very important to identify the etiology of hirsutism and adequate treat is prior to any cosmetic therapy.Case Presentation: The case was a 17-year-old female with severe hirsutism, oligomenorrhea, and obesity. She was evaluated to identify the etiology and diagnosed as a case of polycystic ovarian syndrome (PCOS), nonclassic congenital adrenal hyperplasia (NC-CAH), and hyper androgenic insulin-resistant acanthosis nigricans (HAIR-AN) syndrome, which is a rare combination of hirsutism etiology. She was successfully treated according to the underlying pathology, and laser photo epilation was used as the preferred hair removal method.Discussion: Establishing the etiology, using the evidence–based strategies to improve hirsutism, and treating the underlying disorder, are essential for proper management of women with hirsutism.

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: Congenital Adrenal Hyperplasia (CAH) is an inherited hereditary autosomal recessive heredity, which is often induced by mutation in the CYP21A2 gene. The aim of the present study was to determine the prevalence of cluster exon 6 mutation among patients with CAH deficient in 21-OHD enzyme in Iranian population.Materials and Methods: In the current descriptive study, blood samples were collected from 25 patients with CAH who referred to Ali Asghar Hospital in Tehran. After extraction of genomic DNA, the region containing the cluster gene exon 6 gene was amplified using PCR and then sequenced. Finally, by analyzing sequences, the frequency of cluster mutation exon 6 was determined in the population studied.Results: A total of 15 patients (60%) had a cluster mutation of exon 6, so that in all of them, three mutations V236E, I236N, and M238K were observed as heterozygote. This mutation in the healthy parents of these patients was also identified as heterozygote.Conclusion: It seems that cluster E6 mutation in the heterozygote form alone does not lead to disease, and it is necessary to examine the presence of other mutations in the gene. This mutation may be present as compound heterozygote along with other mutations in the rest of the exons in patients.

Background: We aimed to investigate the prevalence of nephrocalcinosis (NC) among children with diagnosed congenital adrenal hyperplasia (CAH). Our findings would be helpful for earlier diagnosis, management, and prevention of NC‑ related complications. Materials and Methods: In this cross‑ sectional study, children with CAH, aged <18 years old who were regularly referred for follow‑ up, were included. The information of the patients was extracted from their medical files, and they underwent renal ultrasonography for evaluation of the presence of NC. Results: From 120 studied patients with CAH, four patients (3. 3%) had NC. The prevalence of NC was higher in males than females (P = 0. 05). Mean age and age of CAH diagnosis had a trend to be lower in CAH patients with NC than those without. Regression analysis indicated significant association between NC and sex (P = 0. 027, r = 2. 24). Conclusion: The results of this study indicated a 3. 3% prevalence rate of NC for children with CAH. NC had a trend to be more prevalent in male children with CAH. Though it was not significantly different but given that the mean age and age at diagnosis of CAH in children with CAH and NC was lower that CAH patients without NC, it is suggested that in patients with CAH and NC other factors such as genetic background or unknown disease related factors are associated with hypercalcemia and NC.

Background: Children with Congenital Adrenal Hyperplasia (CAH) have a higher chance of hypertension. The likelihood of hypertension is higher in CAH children who get fludrocortisone medication and have an over-suppression. Plasma renin activity (PRA) is a sensitive indicator when the fludrocortisone dose is insufficient. The objective of this study is to assess the relationship between plasma renin activity with hypertension in 21-hydroxylase-deficient (21-OHD) CAH children. Methods: This cross-sectional observational analytical study was conducted in 2019 at the Pediatric Endocrinology Outpatient Clinic in Dr. Cipto Mangunkusumo Hospital (RSCM), Jakarta, Indonesia. The subjects were 21-OHD CAH children, aged >6 months to 18 years who had already taken hydrocortisone with or without fludrocortisone for at least 6 months, and were divided into hypertension and non-hypertension groups. The subjects were selected by a consecutive sampling method. Data was analyzed using SPSS software (version 23.0) with unpaired t test analysis and multiple logistic regression test. Statistical significance was achieved if P<0.05.Results: Forty 21-OHD CAH patients were included, and 20 subjects (50%) had hypertension. A higher incidence of hypertension was found in salt-wasting CAH than in simple virilizing types (59.3% vs 30.8%). There was a significant mean difference in PRA levels between hypertension and non-hypertension groups in salt-wasting patients (P=0.016). A significant difference between the last dose of hydrocortisone with the number of hypertension patients in salt-wasting patients (P=0.032) was found, and low PRA levels showed a 1.09 times higher risk of hypertension. Conclusion: Children with salt-wasting CAH with low PRA levels had a higher risk of getting hypertension.