OBJECTIVE: Congenital adrenal hyperplasia is an autosomal recessive disorder caused by complete or partial defects in one of the several steroidogenic enzymes involved in synthesizing of cortisol from cholesterol in the adrenal gland. Prompt and proper treatment of the disease would reduce symptoms and the level of androgens in patients. The present study aimed to evaluate the demographic characteristics and clinical findings of these patients.
METHODS: This retrospective investigation was conducted in 146 patients with congenital adrenal hyperplasia participated. Their clinical and paraclinical findings were accurately recorded in the file and extracted from the records.
RESULTS: Among all 146 patients, 119(81.5 %) was 21-OH Deficiency type;11-OH Deficiency type was 13(8.9 %), 10(6.8 %) was 3β-HSD type, StAR was 2(1.4 %) and 17 alpha(α)-hydroxylase Deficiency was 2(1.4 %). The mean age of disease onset in these patients was 2.45 ± 1.16 years. Macropenis was the most frequent clinical finding in 39 cases of 64 boys (60.9 %), and Clitoromgaly was the most clinical presentation in 40 cases of 82 girls (48.7 %). The levels of testosterone, dehydroepiandrosterone sulfate, and 17-OHP significantly decreased in the last visit compared to the initial diagnosis.
CONCLUSIONS: Based on the clinical findings in every infant or child with ambiguous genitalia, macropenis, clitoromegaly, hirsutism, and premature pubarche, we should consider congenital adrenal hyperplasia. Prompt and proper treatment and disease control would reduce symptoms and the level of androgens in patients.

UNASSIGNED: Evaluation of the participant satisfaction with a newly developed interdisciplinary, modular education program for children, adolescents, and young adults with differences of sex development (DSD) and their parents.
UNASSIGNED: The two-day program including tailored medical information, peer consultation and psychological support aimed to improve diagnosis-specific knowledge and empowerment. Post-training satisfaction was measured using an adapted ZUF-8 questionnaire, scoring from 5 (worst) to a maximum of 26 (best) for persons aged 6-17 and from 10 to 40 points for adults, including 2 open-ended questions.
UNASSIGNED: The questionnaire, completed by 89 children (6-13 years), 92 adolescents (14-17 years), 47 young adults (18-24 years), and 345 parents, revealed consistent high satisfaction with the program regardless of age or diagnosis (children 24.4 ± 2.1, adolescents 23.5 ± 2.7; young adults 36.0 ± 4.0, parents 36.6 ± 3.4). Neither sociodemographic factors nor diagnosis burden, shame, or informedness showed relevant associations with satisfaction levels. Participants highlighted exchange and open atmosphere as key satisfaction elements.
UNASSIGNED: Satisfaction with the new education program was high in all examined groups. Implementing it in routine care requires further analysis to determine the program\'s long-term effects on well-being and knowledge.
UNASSIGNED: The first educational program for young people with DSD addressing their specific challenges through inclusive language, an open approach to sex and gender and the inclusion of self-help groups.

Over the last several decades, children with all forms of classic congenital adrenal hyperplasia (CAH) are identified early and treated appropriately throughout childhood. As adults, women with CAH may desire to become mothers and their usual chronic therapy and disease control is often inadequate for conception. Subsequently, little data exist on their management during pregnancy. Pregnancy in women with various forms of CAH is possible with appropriate treatment. Achieving pregnancy is more complex than disease management during pregnancy.

OBJECTIVE: Congenital adrenal hyperplasia is an autosomal recessive disease caused by the deficiency of one of the enzymes of adrenal steroidogenesis, the most common of which is the deficiency of 21-hydroxylases. It represents a significant cause of morbidity and mortality in the pediatric population, especially in the absence of systematic neonatal screening in Morocco, which makes the management of these patients difficult for clinicians. This study aimed to describe the epidemiological, clinical, laboratory, evolutionary, and therapeutic profile of children followed for congenital adrenal hyperplasia at the pediatric endocrinology unit, Abderrahim Harrouchi Children\'s Hospital, Casablanca, Morocco. Materials and methods: A retrospective cross-sectional study including 184 children followed for congenital adrenal hyperplasia over a period of 11 years (from January 1, 2013, to December 31, 2023). The diagnosis was confirmed by molecular biology, and all clinical, laboratory, and radiological data were collected retrospectively from medical records.
RESULTS: The median age at diagnosis was 1.5 months (birth: 13 years). The consanguinity rate was 54.4% (n=100). A history of death in the family was found in 16.3% (n=30) of cases in a table of salt wasting and infections. The classic form was observed in 72% (n=132) of children compared to 28.3% (n=52) for the non-classical form. The virilizing form with salt wasting and the pure virilizing form represented 45.6% (n=84) and 26% (n=48) of cases, respectively. Deficiency in 21-hydroxylase was found in 91.8% (n=169) of children, while deficiency in 11-β-hydroxylase was identified in 4.9% (n=9) of cases, and in 3-β-hydroxysteroid dehydrogenase in 3.2% (n=6) of cases. A total of 40.7% (n=75) of children underwent corrective surgery of the external genitalia.
CONCLUSIONS: Congenital adrenal hyperplasia is a group of rare diseases. The best therapeutic alternative would be newborn screening and antenatal diagnosis.

Testicular adrenal rest tumor (TART) is a known complication of congenital adrenal hyperplasia (CAH) that simulates testicular germ cell tumors to the extent that they can pose a diagnostic challenge to treating physicians. In this case series, we have presented four patients with different clinical scenarios but all of them presented with a common symptom of bilateral testicular masses. Their clinical histories were strongly suggestive of CAH. Most of them were treated initially as cases of germ cell tumor (Leydig) as their clinical features were overlapping, posing a diagnostic challenge. The histopathological features of CAH and Leydig cell tumors overlap considerably. Diagnosis of CAH must always be kept in mind as a differential diagnosis in patients presenting with bilateral testicular swellings. Timely diagnosis of TARTs and CAH can help preserve testicular functions. Careful histopathological analysis can add to the clinical features of CAH and Leydig tumors to correctly diagnose these patients. Here, we discuss this diagnostic challenge in our four patients.

UNASSIGNED: In this literature review, we describe the progress of Indonesia\'s NBS program (which is heavily centered on CH screening), its current pilot projects, and what lies ahead for this program.
UNASSIGNED: Since its conception began with congenital hypothyroidism (CH) screening, Indonesia has experienced plodding progress in NBS. There is a shortage of literature discussing the history, or the lack of, and journey of NBS in Indonesia.
UNASSIGNED: We searched for literature in Pubmed and Google Scholar with keywords such as \"Newborn Screening, \"Neonatal Screening,\" \"Indonesia,\" \"Asia Pacific,\" \"Congenital Hypothyroidism,\" \"Congenital Adrenal Hyperplasia,\"\"Critical Congenital Heart Disease,\" \"Hearing Loss,\" and \"Inborn Error of Metabolism.\"
UNASSIGNED: The only mandatory and regulated NBS program in Indonesia is congenital hypothyroid (CH) screening, with some pilot projects being conducted on screening for congenital adrenal hyperplasia (CAH), critical congenital heart disease (CCHD), hearing loss, and to a lesser extent, inborn error of metabolisms (IEMs).
UNASSIGNED: Despite the evidence and benefits, the government does not mandate or regulate newborn diseases such as CHD, CAH, hearing loss, and IEMs. The lack of regulation exists despite multiple pilot projects and studies showing a benefit in at least trying to screen newborns for those conditions.

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders related to adrenal steroid biosynthesis, and mainly caused by mutations in the CYP21A2 gene encoding 21-hydroxylase. Adrenal tumors are common in CAH, but functional adrenal tumors are rare. Here, we report a 17-year-old female with virilized external genitalia and primary amenorrhea, accompanied by a right adrenal tumor. Her 17-OHP level was normal, cortisol and androgen levels were significantly elevated, and the tumor pathology showed adrenal cortical adenoma. Gene testing for CYP21A2 showed c.518T > A in exon 4 and c.29313C > G in intron 2. The possibility of untreated classic CAH with 21-OH deficiency causing functional adrenal cortical adenoma should be considered. When clinical diagnosis highly considers CAH and cannot rule out the influence of functional adrenal tumors\' secretion function on 17-OHP, gene mutation analysis should be performed.

OBJECTIVE: 17α Hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia, typically diagnosed in late adolescence with symptoms of pubertal delay and hypertension. This study aimed to determine the clinical and laboratory characteristics of 17OHD cases and gather data on disease management.
METHODS: Data from 97 nationwide cases were analyzed using the CEDD-NET web system. Diagnostic, follow-up findings, and final heights of patients were evaluated.
RESULTS: Mean age at admission was 13.54 ± 4.71 years, with delayed puberty as the most common complaint. Hypertension was detected in 65% at presentation; hypokalemia was present in 34%. Genetic analysis revealed Exon 1-6 homozygous deletion as the most frequent mutation, identified in 42 cases. Hydrocortisone replacement was universal; pubertal replacement was administered to 66 cases. Antihypertensive treatment was required in 57 (90%) patients. Thirty-seven cases reached final height, with an average SD of 0.015 in 46,XX and -1.43 in 46,XY. Thelarche and pubarche did not develop properly in some cases despite estradiol treatment.
CONCLUSIONS: This study represents the largest cohort of pediatric cases of 17-hydroxylase deficiency (17OHD) documented in the literature. Hypertension and hypokalemia can serve as guiding indicators for early diagnosis.The final height is typically considered to be normal. The relationship between genotype and phenotype remains elusive. The initial genetic test for exon 1-6 deletions may be MLPA in our region.

OBJECTIVE: The study aimed to evaluate adult endocrinologists\' perspectives on caring for patients with congenital adrenal hyperplasia (CAH) and views on their transition from pediatric to adult care.
METHODS: An online survey was conducted among adult clinical endocrinologists at Harvard Medical School-affiliated hospitals from March to October 2022.
RESULTS: Most participants (25/34, 73.5 %) treat patients with CAH and expressed moderate to high confidence (23/32, 71.9 %) in their care. Those that did not treat or accept referrals cited insufficient expertise, knowledge, and resources as reasons. Only half of respondents correctly answered at least 50 % of standard of care questions. The main transition of care barrier identified was the absence of standardized policies (12/34, 35.3 %).
CONCLUSIONS: Participants, though involved in care of patients with CAH, had varied responses to standard of care questions and transition of care barriers, emphasizing the need for standardized transition protocols and additional training to ensure up-to-date clinical knowledge.

UNASSIGNED: 17α-Hydroxylase deficiency, a rare form of congenital adrenal hyperplasia, presents diagnostic and treatment challenges because of the limited number of cases reported.
UNASSIGNED: This report discusses the case of a 17-year-old Chinese girl who suffered from unexplained dizziness, headaches, and high blood pressure. She had amenorrhoea during puberty and had been diagnosed with ovarian delay. Initially, she was diagnosed with hypertension and received three antihypertensive medications. However, her blood pressure remained poorly controlled. Gene sequencing revealed 17α-hydroxylase deficiency caused by compound heterozygous mutations in CYP17A1. One of the mutation sites, potentially novel, has not been reported previously. Subsequently, dexamethasone therapy was initiated, her blood pressure was controlled, and the symptoms disappeared. During the 1-year follow-up, her blood pressure remained normal, and the symptoms did not recur.
UNASSIGNED: 17α-Hydroxylase deficiency is a rare cause of secondary hypertension. Despite the low prevalence, it should not be overlooked in younger patients.