Congenital Adrenal Hyperplasia Children Research Articles

Parental stress parameter difference after caring for congenital adrenal hyperplasia children with genital ambiguity

Abstract Introduction: Congenital adrenal hyperplasia (CAH) disrupts cortisol biosynthesis, which may cause genital ambiguity in females. Caring for children with genital ambiguity creates parental distress. Common stress parameters include biological (e.g., serotonin cortisol) and psychological (e.g., Depression, Anxiety, and Stress Scale [DASS] scores). This study elaborated parental stress parameter differences among parents of CAH children with and without genital ambiguity. Methods: This cross-sectional study included 34 fathers and 44 mothers of children with CAH. All participants agreed to fill in the DASS-42 and socioeconomic questionnaire. Morning serum serotonin and cortisol samples were examined using the enzyme-linked immune-absorbent assay technique. Results: The median (minimum–maximum) value of serotonin concentration was lower in fathers compared to mothers (281.18 [78.44–122.91] ng/ml vs. 399.78 [122.91–1050.0] ng/ml, P = 0.11); in parents of children with genital ambiguity (292.22 [78.44–1050.00] ng/ml vs. 426.71 [150.78–1050.00] ng/ml, P = 0.01); and in parents of children with a diagnosis time <1 year (225.00 [93.41–570.33] ng/ml vs. 371.815 [78.44–1050.00] ng/ml, P = 0.046). Higher cortisol concentration was observed in parents of children with diagnosis time <1 year (78.65 [50.89–126.89] ng/ml vs. 63.33 [6.14–283.67] ng/ml, P = 0.046). The proportion of depression was 24.4%, anxiety 45.1%, and stress 21.8%. Conclusion: Fathers, parents of children with genital ambiguity, and being recently diagnosed had lower serum serotonin levels. Parents of recently diagnosed children had higher cortisol levels. Anxiety was more common than depression and stress.

Internal and External Behavior Outcomes in Children with Congenital Adrenal Hyperplasia: A Systematic Review

Introduction: Congenital adrenal hyperplasia (CAH) is autosomal recessive disorders that disrupt adrenal steroidogenesis. Congenital adrenal hyperplasia (CAH) has been shown to potentially affect psychological adjustment. However, the behavior effect on glucocorticoid treatment in CAH patient remain unclear. The aim of this systematic review was to assess the internal and external behavior problems in CAH children due to glucocorticoid treatment. Methods: The systematic review was carried out using the PRISMA framework and the search strategy was based on the population, intervention, control, and outcome (PICO) model. The relevant article was search from Cochrane, Google Scholar, PubMed, Science Direct, Springer Link, Wiley Online Library Databases from February and March 2022. Results: Six studies were included in this review. The primary domain identified are internal and external behavior from the CBCL questionnaire. Three studies compared the external and internal behavior of CAH children with glucocorticoid treatment to healthy control, two studies post-natal, and one study during prenatal. Three other studies compared CAH with glucocorticoid treatment and the CAH control group. Conclusion: Children with CAH had better behavioral outcomes, especially in internal behavior in glucocorticoid-exposed children.

ODP394 Prevalence of Anxiety and Depressive Symptoms in Children and Adolescents with Congenital Adrenal Hyperplasia (CAH)

Abstract Background CAH is a life-long inherited condition in which individuals require multiple daily doses of medication and are at risk for life-threatening adrenal crises. Adult studies have demonstrated increased rates of psychiatric morbidity with CAH. Given the chronicity and severity of CAH, children are at risk for psychiatric morbidity as well. This study aimed to examine the prevalence of anxiety and depressive symptoms in children and adolescents with CAH. Method: This was a cross-sectional cohort study in which children and adolescents (ages 7-17 years) with CAH (classical or non-classical, on steroid treatment) and their parents were recruited from our institution's urban outpatient clinics from May to December 2021. Healthy, well-controlled children and adolescents with congenital or autoimmune hypothyroidism (HT) and their respective parents served as control participants. Children and adolescents completed questionnaires, based on age eligibility: Screen for Child Anxiety Related Disorders (SCARED), Children's Depression Inventory 2 Self Report – Short (CDI-2), and Patient Health Questionnaire modified for Adolescents (PHQ-A). Parents completed respective parent-proxy questionnaires. Higher scores indicated greater symptoms of anxiety and depression. "At risk" scores were specific to each questionnaire. Measures were completed at a clinic visit, and demographic and past medical history were collected via a separate survey and the electronic medical record. Results A total of 58 child-parent dyads completed questionnaires. Thirty-two children had CAH (66% female, age 11.4 ±2.6 years, CAH duration 8.9 ±3.9 years) and 26 had HT (73% female, age 12.7 ±2.9 years, HT duration 6. 0±4.2 years). Thirty-two, 30 and 13 CAH children and 25, 26 and 16 HT children completed the SCARED, CDI-2 and PHQ-A, respectively. There was no significant difference in level of anxiety and depressive symptoms in children with CAH as compared to the HT group (SCARED 19 ±12 vs. 26±17, P=0.200; CDI-2 53±11 vs. 55±11, P=0.400). The CAH group had fewer depressive symptoms than the HT group on the PHQ-A (4±6 vs 6±5, P=0. 038). There was no difference in rate of "at risk" scores between the CAH and HT groups (SCARED 33% vs. 44%, P=0.400; CDI-2 24% vs. 31%, P=0.500; PHQ-A 15% vs. 31%, P=0.400). No adolescent participants were found to have active suicidal ideation or intent. Children with CAH were more likely to score higher than parent-proxy responses for anxiety-related disorder (19 ±12 vs. 10±8, P=0. 003) and depressive symptoms (CDI-2 53±11 vs. 49±10, P=0. 046). Conclusions Prevalence of anxiety and depressive symptoms does not appear to be higher in children and adolescents with CAH as compared to controls. There is a lack of agreement between child and parent-proxy responses with parents endorsing fewer anxiety and depression symptoms than children. Findings suggest that children with CAH may benefit from routine mental health evaluations as part of CAH care and not only after voiced parental concern. Presentation: No date and time listed

Various Clinical Manifestations of Congenital Adrenal Hyperplasia in Children

The study's objectives was to determine the frequency of various clinical manifestations of congenital adrenal hyperplasia in children. Materials & Methods: The research methodology is descriptive and cross sectional. The event was held at the Department of Pediatric Medicine at DHQ Hospital in Faisalabad. The study will last from September 29th to March 28th, 2019. A total of 90 children with congenital adrenal hyperplasia of age 0-10 years of either gender were included. After taking informed written consent from all children’s parents, different clinical presentations (ambiguous genitalia, simple virilising and salt wasting) were noted in each patient. Results: Mean age of children was 4.84 ± 1.78 years. Out of the 90 patients, 62 (68.89%) were male and 28 (31.11%) were females with male to female ratio of 2.2:1. Mean duration of symptoms was 5.79 ± 2.59 days. In this study, I have found the ambiguous genitalia in 27 (30.0%), simple virilising in 17 (18.88%) and salt wasting in 59 (65.56%) children with congenital adrenal hyperplasia. Conclusion: This study has shown that the salt wasting is the most common clinical presentations of congenital adrenal hyperplasia in children followed by ambiguous genitalia and simple virilising. Keywords: Congenital adrenal hyperplasia, ambiguous genitalia, salt wasting.

Health status of children and young persons with congenital adrenal hyperplasia in the UK (CAH-UK): a cross-sectional multi-centre study.

ObjectiveThere is limited knowledge on the onset of comorbidities in congenital adrenal hyperplasia (CAH) during childhood. We aimed to establish the health status of children with CAH in the UK.Design and methodsThis cross-sectional multicentre study involved 14 tertiary endocrine UK units, recruiting 101 patients aged 8–18 years with classic 21-hydroxylase deficiency and 83 controls. We analysed demographic, clinical and metabolic data, as well as psychological questionnaires (Strengths and Difficulties (SDQ), Paediatric Quality of Life (PedsQL)).ResultsPatient height SDS in relation to mid-parental height decreased with age, indicating the discrepancy between height achieved and genetic potential height. Bone age was advanced in 40.5% patients, with a mean difference from the chronological age of 1.8 (±2.3) years. Patients were more frequently overweight (27%) or obese (22%) compared to controls (10.8% and 10.8%, respectively, P < 0.001). No consistent relationship between glucocorticoid dose and anthropometric measurements or hormonal biomarkers was detected. A small number of patients had raised total cholesterol (3.0%), low HDL (3.0%), raised LDL (7.0%) and triglycerides (5.0%). SDQ scores were within the ‘high’ and ‘very high’ categories of concern for 16.3% of patients. ‘School functioning’ was the lowest PedsQL scoring dimension with a median (interquartile range) of 70 (55–80), followed by ‘emotional functioning’ with a median of 75 (65–85).ConclusionsOur results show an increased prevalence of problems with growth and weight gain in CAH children and suggest reduced quality of life. This highlights the urgent need to optimise management and monitoring strategies to improve long-term health outcomes.

Prevalence of nephrocalcinosis in children with congenital adrenal hyperplasia.

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.

Influencing Factors of Health-Related Quality of Life in Children and Adolescents with Congenital Adrenal Hyperplasia.

To investigate the influencing factors of health-related quality of life (HRQOL) in children and adolescents with congenital adrenal hyperplasia (CAH). Pediatric Quality of Life Inventory 4.0 (PedsQL4.0) and 8-item Morisky medication adherence scale (MMAS-8) were used to survey eighty-seven children and adolescents with CAH (5-18 years), as well as their parents. SPSS 26.0 software was utilized for statistical analysis. The scores of social functions, school performance, social psychological function and total scores of CAH girls aged 13-18 years were lower than those of boys (p < 0.05). CAH children with older age, longer course of disease, older than 3 years old at first diagnosis, living in rural areas, lower education level of caregivers and lower family monthly income had lower scores. CAH patients with poor compliance and complications had significantly lower scores in each single domain, social psychological function, and total scores than those with good compliance and no complications (p < 0.05). Age, age at initial diagnosis, course of disease, complications, compliance, residence, education level of caregivers and family income were important factors affecting HRQOL of CAH children and adolescents, among which complications and compliance were independent key influencing factors.

The results of therapy of congenital adrenal hyperplasia in children in perm region

Background. Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders. About 90% of all children with CAH have 21-hydroxylase deficiency which is required for the synthesis of glucocorticoids and mineralocorticodes. The salt-wasting form of CAH develops with a deficiency of both types of hormones. This form of CAH results in infant death if not treated, therefore early disease detection and start of treatment are very important.&#x0D; Aim of research is to study the clinical features of the course of the disease and evaluate the treatment efficacy of children with salt-wasting form of CAH in the Perm region.&#x0D; Materials and methods. We conducted an analysis of the clinical features of the salt-wasting form of CAH in 40 children of the Perm region. To evaluate the treatment efficacy following symptoms were analyzed: salty food craving, hyperpigmentation of skin, hirsutism, delayed or accelerated growth, etc. and parameters of water-electrolytic balance, the level of 17-hydroxyprogesterone, adrenocorticotropic hormone, renin.&#x0D; Results and discussion. Despite the modern possibilities of diagnosing and treating CAH, the complete control of the disease cant be achieved in all children. Almost all the children examined had either symptoms of replacement therapy failure or overdose symptoms. Hormonal imbalance disorders were performed by a few children without any symptoms of the disease.&#x0D; Conclusion. During our research we concluded that young children often have issues with an overdose of hormonal drugs and frequent occurrence of salt-wasting crises against the background of associated diseases, while for teenagers, problems associated with an insufficient dose of glucocorticoid drugs are relevant. Also, significant difficulties in the treatment of children with CAH are associated with the short action of hydrocortisone. One way to solve these problems is to organize a school for parents of children with CAH. Creating motivation, explaining the principles of treatment and importance of regular taking of drugs, as well as algorithm in medical emergency is an important step in achieving control for the disease.

Cardiac Arrest in a Child with Non-classic Lipoid Congenital Adrenal Hyperplasia Associated with a New STAR Gene Mutation

Abstract Introduction: Steroidogenic acute regulatory (STAR) protein regulates steroid hormone synthesis by transporting cholesterol into mitochondria. STAR gene mutations lead to lipoid congenital adrenal hyperplasia (LCAH), the rare but most severe form of congenital adrenal hyperplasia in children. We present an unusual case with an episode of cardiac arrest in a young girl during an acute febrile illness and later she was diagnosed with adrenal insufficiency secondary to a non-classic LCAH. Case: 2-year 11-month-old previously healthy white female was brought to an urgent care clinic due to severe lethargy and a seizure-like activity during a fever illness. She was found to have an undetectable blood glucose level and went into cardiac arrest shortly after arrival. CPR was performed for approximately 11 minutes. She then developed sever respiratory distress and was intubated. She was transferred to the PICU with IV sodium bicarbonate given en route. On admission, her body weight was 13.26 kg (36.80th percentile), height 90 cm (17.56th percentile), and BMI 16.17 (62.88th percentile). Her physical exam revealed normal external female genitalia and normal skin pigmentation. Lab evaluation revealed normal sodium and potassium but elevated anion gap, hyperuricemia, elevated creatinine kinase, abnormal liver function tests and abnormal coagulation profile. Brain MRI revealed findings consistent with hypoxic-ischemic encephalopathy. Renal function improved within 24 hours and hepatic function returned to normal after 20 days. Due to her severe hypoglycemic event, a high-dose ACTH stimulation test was performed. The results were consistent with adrenal insufficiency: baseline cortisol level, 7.3 μg/dL; 30 minutes cortisol, 7.8 μg/dL; 60 minutes cortisol, 9 μg/dL (normal response, ≥18 mcg/mL at 30 or 60 minutes). The baseline ACTH level was significantly elevated, 1688 pg/mL (0–46) as well as the renin activity, 24.3 ng/hour (1.7–11.2). Genetic testing revealed a 46 XX karyotype. STAR gene analysis identified compound heterozygosity; a novel deletion (c.811delC, p.Leu271Cysfs*50) and a previously reported missense mutation (c.661G&amp;gt;A, p.Gly221Ser). The girl is now 11 years old and exhibits normal growth, normal cognitive development, and she has developed early signs of puberty (Tanner stage 2 for breast). She takes daily hydrocortisone, fludrocortisone and stress dose hydrocortisone as needed. Conclusion: In non-classic LACH, the onset is generally late or not acute. Initial clinical features are variable and nonspecific. For this reason, non-classic LCAH may be overlooked. Adrenal crisis is a life-threatening complication, and it is important that clinicians are aware of the clinical features of non-classic LCAH and consider it in the differential diagnoses. Genetic testing for STAR should be considered in individuals with non-autoimmune primary adrenocortical insufficiency.

The Spectrum of CYP21A2 Gene Mutations from 16 Families of Congenital Adrenal Hyperplasia: Genotype-Phenotype Correlation.

Aim:Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder of the adrenal steroidogenic pathway. The most common form of CAH is due to 21-hydroxylase deficiency resulting from mutations in CYP21A2 gene. The present study aimed to identify CYP21A2 common gene mutations, phenotype correlation, and to analyze the segregation pattern in CAH patients, parents, and siblings.Materials and Methods:Sixteen families having at least one classic CAH child in each family, a total of 58 subjects were recruited. The presence of six most common gene mutations, namely, Intron 2 (c.293-13A/C>G), c.844G>T (p.Val282Leu), c.1019G>A (p.Arg340His), c.92C>T (p.Pro31Leu), c.955C>T (p.Gln319*), and c.518T>A (p.Ile173Asn) in CYP21A2 gene were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) using specific primers.Results:Out of 16 classic CAH females analyzed, salt-wasting (SW) form was present in 12 (75%) and simple virilizing form in four (25%) children. Isolated clitoromegaly was the most common clinical presentation followed by ambiguous genitalia. The most common mutation observed in CAH patient population was Intron 2 (c.293-13A/C>G) (100%) followed by p.Pro31Leu (98%), p.Gln319* (93%), p.Val282Leu (91.4%), and p.Ile173Asn (19%). Although p.Arg340His mutation was not observed in this study. Interestingly, Intron 2 (c.293-13A/C>G) homozygous was observed in 31.3% of the entire study cohort and p.Ile173Asn mutation was found to be associated with SW form.Conclusions:Our results suggested a high prevalence of CYP21A2 gene mutations among CAH patients and heterogeneous mutation spectrum in their families of south Indian cohort. The outcomes afford valuable evidence for premarital and prenatal screening as well as planning suitable programs to prevent the development of CAH in Indian population.

Recommendations of patients and families of girls with 46XX congenital adrenal hyperplasia in the United Kingdom regarding the timing of surgery.

The timing of surgery for congenital adrenal hyperplasia (CAH) is contentious. We aimed to survey expert families and patients for their recommendations regarding timing of surgery for a family with a newly diagnosed CAH child. A Survey Monkey questionnaire was performed at the 2017 meeting of the CAH support group, "Living with CAH", and also sent to the members of the CAH support group. The surgical-timing responses were a Likert score from 1 (strongly disagree) to 5 (strongly agree). Data were analysed by Kruskal-Wallis test. p < 0.05 taken as significant. Of the 61 respondents, 12 were CAH patients, 43 were CAH parents, 3 were physicians, 1 surgeon and 2 others. For all respondents, the Likert score was 3 for infant, toddler and adult timing of surgery (neutral), not statistically significant (ns). For parents and/or children who had surgery (n = 26), the score was 4 (3-5) for infant vs. 4 (3-4) for toddler-years vs. 2 (1-3) for adulthood. This was statistically significant (p = 0.0002). When only patients who had CAH surgery were included, there were only 8 respondents and their scores were: infancy 3 (2-4) vs. toddler-years 4 (2-4) vs. adulthood 1 (1-4), ns. Expert families and patients in the United Kingdom who have had CAH surgery, recommend surgery in the first few years of life vs. adulthood. There is a selection bias, however this may support MDTs in continuing to discuss surgery as an option in childhood.

Congenital Adrenal Hyperplasia in Children: A Pilot Study of Steroid Hormones Expressed as Sex- and Age-Related Standard Deviation Scores

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease predominantly caused by 21-hydroxylase deficiency. Clinical management in children includes glucocorticoid and often mineralocorticoid treatment alongside monitoring outcomes such as an­thro­po­metry, pubertal status, blood pressure, and biochemistry. Objective: The objective of this pilot study was to present the use of 17-hydroxyprogesterone (17-OHP) and androgen metabolites expressed as standard deviation (SD) scores rather than actual concentrations as a tool in the management of children with CAH as well as in research settings. Methods: The study was a retrospective, longitudinal study that took place in a single, tertiary center and included 38 children and adolescents aged 3–18 years with CAH due to 21-hydroxylase deficiency. Biochemical measurements of 17-OHP, androstenedione, dehydroepiandrosterone-sulphate (DHEAS), and testosterone using liquid chromatography-tandem mass spectrometry were expressed as SD scores, and outcomes such as genotype, height, bone maturation, blood pressure, and treatment doses were extracted from patient files. Results: The majority (86%) of CAH patients had 17-OHP measurements above +2 SD during standard hydrocortisone therapy, receiving an average daily hydrocortisone dose of 12.6 mg/m². Androstenedione concentrations were mostly within ±2 SD, whereas DHEAS values were below –2 SD in 47% of patients. Conclusions: Applying sex- and age-related SD scores to 17-OHP and androgen metabolite concentrations allows for monitoring of hydrocortisone treatment independent of age, sex, assay, and center. We propose that 17-OHP and androgen metabolites expressed as SD scores be implemented as a unifying tool that simplifies research and, in the future, also optimal management of treatment.

Clinical and hormonal features of the manifestation of various forms of congenital adrenal hyperplasia in children

Clinical and hormonal features of the manifestation of various forms of congenital adrenal hyperplasia in children

Glucocorticoid replacement regimens for treating congenital adrenal hyperplasia.

Glucocorticoid replacement regimens for treating congenital adrenal hyperplasia.

Variations in 17[alpha]-hydroxyprogesterone response to hydrocortisone treatment for congenital adrenal hyperplasia in children

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Pain and Stress Response during Intravenous Access in Children with Congenital Adrenal Hyperplasia: Effects of EMLA and Nitrous Oxide Treatment.

Background Congenital adrenal hyperplasia (CAH) is an endocrine condition that requires regularly blood samples for optimal treatment. The management of CAH in children is complex when intravenous access is one of the most stressful procedures for children. The purpose of this pilot study was to investigate the effects of nitrous oxide inhalation (N2O) in combination with cutaneous application of local anesthetics (EMLA) for improving intravenous access in children with CAH. Method Ten children (7–14 years) were studied. The children received two intravenous procedures: one with EMLA and one with EMLA + N2O. The order of priority was randomized. The outcomes were the children's pain experience (0–10) and an evaluation of satisfaction (1–5) after the procedure. Heart rate, blood pressure, saturation, and analyses of 17-hydroxyprogesterone (17-OHP), norepinephrine, and glucose were analyzed. Results Higher pain scores, heart rate, and glucose levels were reported after EMLA, compared to EMLA + N2O, but 17-OHP levels remained unchanged. The children's satisfaction with the intravenous procedure was more positive for EMLA + N2O. Conclusions EMLA + N2O offers the possibility of improving the intravenous procedure for anxious children with CAH. Although the quality of care was better with N2O treatment, it was not possible to demonstrate that this is a prerequisite for valid 17-OHP measurements.

Knowledge, stress and adopted coping strategies of parents of children having congenital adrenal hyperplasia: An exploratory survey

Background: Congenital adrenal hyperplasia (CAH) is an inherited disorder of adrenal glands, the most common type being due to a deficiency of the enzyme 21-?-hydroxylase. Girls affected with it are virilized to a variable extent. The taboo associated with ambiguous genitalia in female babies poses an immense societal pressure on parents for keeping the disease a secret. Objective: The aim of the study was to generate the evidence on the knowledge, stress, and coping strategies used by the parents of CAH children. Methodology: In a cross-sectional descriptive survey using mixed methods approach, 30 parents of children with CAH attending the outdoor department of pediatric medicine and surgery in a tertiary care hospital were enrolled. The CAH knowledge questionnaire, parental stress scale (PSS), and COPE inventory were the standardized tools used along with demographic profile sheet to assess the knowledge of parents related to CAH, stress, and coping strategies used by them. Results: Majority of the parents (67%) had poor knowledge (&lt;7) and moderate stress (42-65) scores. Knowledge and stress were negatively correlated (r=?0.39, p=0.035). Coping strategies used by the parents in dealing with stress in moderate amount were mainly problem-focused (active coping [60%] and planning [60%], instrumental social support [53%], suppression of competing activities [50%]), and emotion-focused (positive reinterpretation [60%], emotional social support [67%], acceptance [53%], and religious coping [50%]). Less useful coping strategies such as focus on and venting of emotions, behavioral disengagement, mental disengagement, humor, and substance abuse were not used by the majority parents. Conclusion: Parents of children with CAH had poor knowledge and moderate stress related to the disease condition of their children and were using problem focused and emotion focused coping strategies to reduce their stress.

Obesity in children with congenital adrenal hyperplasia in the Minnesota cohort: importance of adjusting body mass index for height‐age

To evaluate obesity and overweight in children with congenital adrenal hyperplasia (CAH) and associations with glucocorticoids, fludrocortisone and disease control. Adjusting body mass index-for-height-age (BMIHA ) percentile is proposed to correct misclassification of obese/overweight status in CAH children with advanced bone age and tall-for-age stature. Longitudinal. One hundred and ninety-four children with CAH seen from 1970 to 2013: 124 salt wasting (SW); 70 simple virilizing (SV); 102 females. Body mass index (BMI) end-points were overweight (85-94 percentile) and obese (≥95 percentile). Approximately 50% of the children had at least one BMI measurement ≥95 percentile and about 70% had at least one ≥85 percentile. Using BMIHA percentiles, obesity incidence decreased slightly in SW children (47-43%) and markedly in SV children (50-33%); however, overweight status was not reduced. Only 6% of SW and 1% of SV children were persistently obese (≥3 clinic visits) when BMIHA was applied, whereas overweight status persisted in 35% of SW and 33% of SV children. Most obesity or overweight when using BMIHA occurred before age 10 and there was no association with hydrocortisone (HC) or fludrocortisone dosing. Adiposity rebound for SW children occurred by 3·3 years and in SV females by age 3·8 years, over a year earlier than the adiposity rebound for healthy children. Children with CAH are at higher risk for early onset obesity and overweight with or without using BMIHA but rates of persistent obesity were lower than previously reported. Careful HC dosing during early childhood is needed to prevent increased weight gain and an early adiposity rebound.

Basal 17-hydroxyprogesterone cannot accurately predict nonclassical congenital adrenal hyperplasia in children and adolescents.

This study explored whether using the suggested diagnostic serum basal level of 17-hydroxyprogesterone (6.0 nmol/L) would lead to underdiagnosis of nonclassical congenital adrenal hyperplasia. We retrospectively studied 123 patients with nonclassical congenital adrenal hyperplasia, defined as an adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone level of more than 45 nmol/L. Of these 13 had basal 17-hydroxyprogesterone levels of less than 6.0 nmol/L and 110 exceeded that level. The 42 controls had idiopathic premature pubarche. Clinical and laboratory data were reviewed and compared. There were no differences between patients with 17-hydroxyprogesterone levels of <6.0 nmol/L or ≥6.0 nmol/L based on age at presentation, gender, anthropometric measurements, bone age advancement, age at glucocorticoid initiation and hydrocortisone dosage. Patients with basal 17-hydroxyprogesterone <6.0 nmol/L had significantly lower stimulated 17-hydroxyprogesterone levels (p = 0.02) and higher stimulated serum cortisol levels (p < 0.008). Children with nonclassical congenital adrenal hyperplasia and premature pubarche were clinically indistinguishable from controls with idiopathic premature pubarche. Androgen levels were significantly higher in the nonclassical congenital adrenal hyperplasia group. A basal 17-hydroxyprogesterone threshold of 6.0 nmol/L was not a sensitive predictive marker for diagnosing nonclassical congenital adrenal hyperplasia. Children whose clinical presentation suggests nonclassical congenital adrenal hyperplasia should undergo diagnostic adrenocorticotropic hormone stimulation testing.

Hospital Admission Patterns in Children with CAH: Admission Rates and Adrenal Crises Decline with Age.

Objective. To examine patterns of hospitalisation for acute medical conditions in children with congenital adrenal hyperplasia (CAH). Design. A retrospective study of hospitalisation using administrative data. Setting. All hospitals in NSW, Australia. Patients. All patients admitted with CAH and a random sample of admissions in patients aged 0 to 18 years without adrenal insufficiency (AI). Main Outcome Measures. Admissions and comorbidities by age and sex. Results. Of 573 admissions for medical problems in CAH children, 286 (49.9%) were in males, and 236 (41.2%) had a principal diagnosis of CAH or had an adrenal crisis (AC). 37 (6.5%) ACs were recorded. An infection was found in 43.5% (n = 249) of the CAH patient admissions and 51.7% (n = 1613) of the non-AI group, p < 0.001. Children aged up to one year had the highest number of admissions (n = 149) and six ACs (four in males). There were 21 ACs recorded for children aged 1–5 years. Older CAH children had fewer admissions and fewer ACs. No in-hospital deaths were recorded. Conclusions. Admission for medical problems in CAH children declines with age. An AC was recorded in 6.5% of the admissions, with the majority of ACs occurring in the 1 to 5 years age group and there were no deaths.