Incidence Of Congenital Adrenal Hyperplasia Research Articles

The impact of neonatal 17-hydroxyprogesterone cutoff determination in a public newborn screening program for congenital adrenal hyperplasia in Southern Brazil: 3 years' experience.

Congenital adrenal hyperplasia (CAH) occurs due to enzyme defects in adrenal steroidogenesis. The 21-hydroxylase deficiency accounts for 90-95% of cases, triggering accumulation of 17-hydroxyprogesterone (17-OHP). Early diagnosis through neonatal screening allows adequate treatment and reduced mortality. The purpose of the study was to determine 17-OHP cutoffs for the diagnosis of CAH in a public newborn screening program in Southern Brazil. A retrospective, descriptive, cross-sectional study was conducted to analyze 17-OHP levels in dried blood samples collected on filter paper of 317,745 newborns screened at a public newborn screening center from May 2014 to April 2017. Neonatal 17-OHP was measured in DBS samples using a time-resolved fluoroimmunoassay (GSP® kit 3305-0010; PerkinElmer). Different cutoffs were determined and stratified by birth weight. The incidence of CAH was 1:15,887 live births in the state of Rio Grande do Sul, with 20 cases of classical CAH diagnosed during the study period. Most newborns (80.73%) were white, and the prematurity rate was 9.8% in the study population. The combination of different percentiles, 98.5th for birth weight 2001-2500 g and 99.8th for the other birth weight groups, decreased false-positive results and increased specificity compared with current reference values to identify classical CAH cases. The local 17-OHP cutoffs determined were higher than those currently used by this screening program for all birth weight groups. The calculation of reference values from local population data and the combination of percentiles proved to be a valuable tool for proper diagnosis of CAH and reduction in the number of false positives.

Abnormal Newborn Screen During a Pandemic.

Abnormal Newborn Screen During a Pandemic.

Epidemiology and Long-Term Adverse Outcomes in Korean Patients with Congenital Adrenal Hyperplasia: A Nationwide Study.

BackgroundPrevious studies on the epidemiology and complications of congenital adrenal hyperplasia (CAH) were conducted in Western countries and in children/adolescents. We aimed to explore the epidemiology of CAH, as well as the risk of comorbidities and mortality, in a Korean nationwide case-control study.MethodsCAH patients (n=2,840) were included between 2002 and 2017 from the National Health Insurance Service database and the Rare Intractable Disease program. CAH patients were compared, at a 1:10 ratio, with age-, sex-, and index year-matched controls (n=28,400).ResultsThe point prevalence of CAH patients in Korea was 1 in 18,745 persons in 2017. The annual incidence rate declined between 2003 and 2017 from 3.25 to 0.41 per 100,000 persons. CAH patients were at elevated risk for cardiovascular disease (odds ratio [OR], 1.6; 95% confidence interval [CI], 1.4 to 1.9), stroke (OR, 1.7; 95% CI, 1.3 to 2.0), diabetes mellitus (OR, 2.8; 95% CI, 2.6 to 3.1), dyslipidemia (OR, 2.4; 95% CI, 2.2 to 2.6), and psychiatric disorders (OR, 1.5; 95% CI, 1.3 to 1.6). Fracture risk increased in CAH patients aged over 40 years (OR, 1.4; 95% CI, 1.1 to 1.7). CAH patients were at higher risk of mortality than controls (hazard ratio, 1.6; 95% CI, 1.3 to 2.0).ConclusionOur nationwide study showed a recent decline in the incidence of CAH and an elevated risk for cardiovascular, metabolic, skeletal, and psychiatric disorders in CAH patients. Lifelong management for comorbidity risk is a crucial component of treating CAH patients.

Analysis of the screening results for congenital adrenal hyperplasia involving 7.85 million newborns in China: a systematic review and meta-analysis

Background Congenital adrenal hyperplasia (CAH) is a group of congenital genetic diseases caused by defective steroidogenesis. Our study aims to systematically analyze the screening results for CAH in Chinese newborns. Methods Studies were searched from PubMed, Web of Science, Cochrane library and some Chinese databases up to September, 2020. Meta-analysis was performed after quality assessment and data extraction. Results After a review of 2 694 articles, we included 41 studies enrolling 7 853 756 newborns. In our study, we found that the incidence of CAH in China was 0.43‱ [95% confidence intervals(CI), (0.39‱, 0.48‱)], or 1/23 024 [95%CI, (1/25 757,1/20 815)]. 27 studies were included for analysis of the screening positive rate, which gave a rate of 0.66% [95%CI, (0.54%, 0.78%)]. As for the recall rate of positive cases, 17 studies were included and showed that the recall rate reached 86.17% [95%CI, (82.70%, 89.64%)]. Among the CAH patients, the ratio of males to females was 1.92:1 (119:62), and the ratio of salt wasting (SW) to simple virilization (SV) type was 3.25:1 (104:32). The average 17-hydroxyprogesterone (17-OHP) value of CAH was 393.40 ± 291.85 nmol/L (Range 33-1 300 nmol/L); there was no significant difference between male and female patients (437.17 ± 297.27 nmol/L v.s. 322.25 ± 293.04 nmol/L, P=0.16), but a significant difference was found between SW and SV patients (483.29 ± 330.07 nmol/L v.s. 73.80 ± 7.83nmol/L, P=0.04). Conclusion We systematically analyzed the current situation of neonatal CAH screening in China, which will deepen our understanding for future CAH screening and early diagnosis.

The presentation of congenital adrenal hyperplasia in an unscreened population.

The aim of this study was to describe the incidence and spectrum of early clinical presentations of congenital adrenal hyperplasia (CAH) in an unscreened population. A national retrospective observational study was undertaken to identify all children diagnosed with CAH in the Republic of Ireland, between January 2005 and December 2019. Reporting clinicians completed anonymized clinical questionnaires. There were 103 cases of CAH reported and 69 cases met the study inclusion criteria. The estimated annualized incidence of CAH in the Republic of Ireland was 1:14,754 or 0.07 cases per 1,000 live births. Forty-seven children presented clinically in the first six months of life, but only 17 of these had a confirmed diagnosis by day 10. Of these early presentations, there were 28 infants with salt-wasting, 15 females presented with virilized genitalia and four infants were detected due to a family history of CAH. Female infants presented at a median age of 0days [IQR 0-1] and males at 14days [IQR 9-21]. Seventy-eight percent of salt-wasting presentations occurred after day 10. Delays in clinical presentation, biochemical diagnosis and treatment initiation were identified. The incidence of CAH is higher in Ireland than in other unscreened populations. In the absence of screening, clinicians should be aware of the possibility of CAH and appropriate investigations should be urgently requested. Life-threatening salt-wasting is the most frequent clinical presentation and many cases could be detected prior to decompensation if newborn screening were introduced.

A pilot study on newborn screening for congenital adrenal hyperplasia in Beijing

Background A provisionary screening programme for 21-hydroxylase deficiency (21-OHD) was initiated in Beijing in 2014. The aim of this study was to investigate the incidence and the associated clinical characteristics of neonatal congenital adrenal hyperplasia (CAH) in Beijing and to provide evidence-based guidance for its application in CAH screening. Methods Live birth newborns (n=44,360) were screened for CAH in Beijing from July 2014 to April 2018. The levels of 17-hydroxyprogesterone (17-OHP) in the blood were estimated using the time-resolved fluoroimmunoassay. Neonates with a positive result and a level >30 nmol/L of 17-OHP were called for a retest. CAH was diagnosed based on further laboratory findings combined with clinical signs, such as weight loss, feeding difficulties, skin pigmentation, and atypical genitalia. Through a review of medical records, the clinical findings including molecular data were reported. Results Of the 44,360 neonates screened, 280 cases were deemed positive. Of these, 203 neonates were recalled for further tests and six patients (three boys and three girls) were diagnosed with CAH. Five cases of classic salt-wasting and one case of simple virilising 21-OHD were identified. The incidence of CAH in Beijing was 1:7393. The most frequent 21-OHD mutation was c.293-13C/A>G. Conclusions The incidence of CAH in Beijing was higher than the national average. The results support the need for neonatal CAH screening in Beijing. This pilot study demonstrates the clinical characteristics of 21-OHD through newborn screening. Early detection and treatment through neonatal screening may reduce mortality rates and optimise developmental outcomes.

Incidence of disorders of sexual development in neonates in Ghana: prospective study

Objective The incidence of disorders of sexual development (DSD) is unknown in sub-Saharan Africa. We describe the characteristics and incidence of DSD in a cohort of infants born in Ghana. Design Trained research assistants performed systematic genital examination at birth. All infants with suspected abnormal genitalia were further examined by a paediatric endocrinologist. Setting Komfo Anokye Teaching Hospital, Kumasi, Ghana. Patients Consecutive infants born in a single centre over a 1-year period (May 2014 to April 2015). Main outcome measures Incidence of DSD. Micropenis was defined as a stretched length 8.6 mm. Results We examined 9255 infants (93% of all live births) within 72 hours of birth. Twenty-six neonates had a DSD. Nineteen infants had DSD without genital ambiguity: isolated micropenis (n=2), hypospadias (n=7), cryptorchidism (n=4) and clitoromegaly (n=6). Seven infants had DSD with ambiguity: clitoromegaly with a uterus on ultrasound and elevated 17-hydoxyprogesterone, suggesting XX DSD due to congenital adrenal hyperplasia (CAH)(n=4) and micropenis, hypospadias and gonads in a bifid scrotum or in the inguinal region, consistent with XY DSD (n=3). Conclusion The incidence of atypical genitalia was 28/10,000 (95% CI 17/10 000 to 39/10 000) live births. The incidence of CAH was 4.3/10 000 (95% CI 1.2/10 000 to 11.1/10 000) and was strongly associated with consanguinity.

Incidence of disorders of sexual development in neonates in Ghana: prospective study

ObjectiveThe incidence of disorders of sexual development (DSD) is unknown in sub-Saharan Africa. We describe the characteristics and incidence of DSD in a cohort of infants born in Ghana.DesignTrained research...

Newborn screening for congenital adrenal hyperplasia in New York State

From 2007 to 2014 the New York State (NYS) Newborn Screening (NBS) program screened 2 million newborns for congenital adrenal hyperplasia (CAH). The data was analyzed to determine factors that affect 17α-hydroxyprogesterone levels and assist in developing algorithm changes that would improve the positive predictive value of the methodology being used. The concentration of 17-OHP in dried blood spots was measured using the AutoDELFIA Neonatal 17-OHP kit (Perkin Elmer, Turku, Finland). During the 8year period of this study 2476 babies were referred, 105 babies were diagnosed with CAH (90 with the salt-wasting (SW), 8 with simple virilizing (SV), 5 with non-classical CAH, and 2 with another enzyme deficiency) and, 14 with possible CAH. Three false negative cases with SV-CAH were reported to the program. Of the total 108 known cases, 74 (69%) infants were detected by newborn screening in the absence of clinical information, or, known family history. The incidence of CAH in NYS is 1 in 18,170 with a ratio of SW to SV of 8.2:1. The incidence of CAH is lower in Black infants than in White, Hispanic and Asian infants. Despite a lower mean birth weight, female infants have a lower mean 17-OHP value than male infants and are under-represented in the referred category. As per other NBS programs the false positive rate is exacerbated by prematurity/low birth weight and by over-early specimen collection.

Newborn screening for congenital adrenal hyperplasia in Tokyo, Japan from 1989 to 2013: a retrospective population-based study.

BackgroundCongenital adrenal hyperplasia (CAH) cause life-threatening adrenal crisis. It also affects fetal sex development and can result in incorrect sex assignment at birth. In 1989, a newborn screening program for congenital adrenal hyperplasia (CAH) was introduced in Tokyo. Here we present the results of this screening program in order to clarify the efficiency of CAH screening and the incidence of CAH in Japan.MethodFrom 1989 to 2013, a total of 2,105,108 infants were screened for CAH. The cutoff level for diagnosis of CAH was adjusted for gestational age and birth weight.ResultsA total of 410 infants were judged positive, and of these, 106 patients were diagnosed with CAH, indicating a positive predictive value (PPV) of 25.8 %. Of the 106 patients, 94 (88.7 %) were diagnosed with 21-OHD. Of these 94 patients, 73 were diagnosed with the salt wasting form, 14 with the simple virilising form and 7 with the nonclassical form (NC21OHD). The mean birth weight and gestational age were 3192 ± 385 g and 38.9 ± 1.38 weeks. 11 out of 44 female patients were assigned as female according to their screening result.ConclusionsThese data suggest that the newborn screening in Tokyo was effective, especially for sex assignment and preventing fatal adrenal crisis. The incidence of CAH was similar to that measured in previous Japanese screening studies, and it was also similar to that of western countries. The incidence of NC21OHD in Japan in the present study was lower than that in western countries as previous studies reported. The screening program achieved higher PPV than previous CAH screening studies, which might be due to the use of variable cutoffs according to gestational age and birth weight. However, most of the neonates born at 37 weeks or less that were referred to hospital were false-positives. Further changes are needed to reduce the number of false positive preterm neonates.

Newborn Screening for Congenital Adrenal Hyperplasia in India: What Do We Need to Watch Out for?

Congenital Adrenal Hyperplasia (CAH) is a disorder-an ideal candidate to deserve newborn screening. CAH accounts for a significant mortality and morbidity in India, and its awareness among obstetricians should be treated as highly important to prevent the problem. It is very important for a country like India as the incidence of CAH is reasonably high justifying screening program. However, there are simple logistics that need to be followed, and the treating physicians need to be aware of, if one has to reduce the number of false positives and recalls. This article takes one through the steps involved in the analysis, interpretation, and reasons for false positives, why the false positives, so that unnecessary calls to parents for repeat sampling are minimized along with the emphasis and the need for the routine screening for CAH. The results of samples can vary depending on the gestational age of the baby, weight of the baby, sampling time, and the knowledge of these data to the treating Obstetrician and Pediatrician is of paramount importance in preventing repeat samples and frustration for the family and the people involved.

Evaluation of parental knowledge after establishing CAH clubs in Vietnam & Indonesia

The incidence of Congenital Adrenal Hyperplasia (CAH) in some Asian countries is far higher than in Australia, (eg 1:6000 as per the Filipino Newborn Screening Program). For many families in low and middle-income countries in Asia resources are limited, affordable and reliable access to essential medicines is problematic, and families living remotely are required to travel long distances for medical care [1]. CAH is associated with significant physical & psychosocial consequences for affected children & their families where treatment is suboptimal, so there are important equity implications for the global CAH and paediatric endocrinology communities to consider. Health education is an integral component of health care in any setting. “CAHPepTalk” is an educational resource that was developed initially for CAH families in Australia. This validated educational resource has been produced in DVD format and can be facilitated by one health professional. The program includes a translated validated CAH Knowledge Assessment Questionnaire (CAHKAQ) [2], to enable staff to assess patient knowledge in order to evaluate educational needs. In collaboration with CLAN (Caring & Living As Neighbours), an Australian NGO committed to optimal quality of life for all children living with chronic health conditions), translation of “CAHPepTalk” into Vietnamese & Indonesian was undertaken, & distributed to CAH Communities in the Asia-Pacific region, was supported by CLAN. Knowledge of parents of children with CAH in Vietnam and Indonesia was assessed prior to families attending education programs run at CAH Club meetings supported by CLAN, in 3 settings: Hanoi, Ho Chi Minh City & Jakarta. 260 questionnaires have been completed by parents. The results to be presented will include knowledge, management & demographics. Using the CAHKAQ is the first step in the education process in order to improve health outcomes for families in any setting, within Australia, Vietnam or Indonesia.

Evolution of a website: CAHPepTalk.com & the development of the emergency hydrocortisone mobile app

A comprehensive, validated psychosocial education program (PEP) titled “The CAH Family Workshop” was developed a decade ago to meet the needs of families with Congenital Adrenal Hyperplasia (CAH). Engaging professionals experienced in the field of endocrinology, together with information from parent interviews, was key to development of the program’s content. Validation of the program was conducted with the families participating in the program, from one of the three tertiary Children’s Hospitals in NSW Australia. The PEP provides families with essential information to assist in understanding and managing the condition. An awareness of a lack of CAH resources for families living in rural and remote regions of NSW and Australia led to the development of the program into a DVD format. This enabled these families access to the program which covers all aspects of care. The DVD format was designed to be facilitated by one experienced health professional thus reducing the need for a team of specialists to travel to country areas, which was logistically difficult and costly. The need for CAH resources was further identified in the neighbouring South-East Asian countries of Vietnam and Indonesia where there is a higher incidence of CAH. Through the support of volunteer medical professionals and health services interpreters, the program was translated into these languages. The provision of this valuable resource for families and health professionals in these countries was supported by Caring Living As Neighbours (CLAN) and the CAH Support Group of Australia (CAHSGA). The most recent stage of this project is the development of the CAHPepTalk.com website, which provides easy access to the English, Vietnamese and Indonesian translations of the program and relevant resources. This presentation will discuss the process of developing this patient-focused education website together with a new Hydrocortisone Emergency Injection App for iphones & android devices.

Ten-year evaluation of a Neonatal Screening Program for congenital adrenal hyperplasia.

Evaluate the Neonatal Screening Program (NSP) for congenital adrenal hyperplasia (CAH) of the Department of Health of the State of Santa Catarina (Secretaria de Estado da Saúde de Santa Catarina, SES/SC), and provide information to improve the program. Descriptive, retrospective study of 748,395 children screened between January 2001 and December 2010. We analyzed the coverage of the NSP-SES/SC prevalence of CAH, child's age when the first sample for 17-hydroxyprogesterone (17OHP) measurement was collected, levels of 17OHP, mean age at treatment onset and main clinical manifestations. The NSP-SES/SC covered 89% of the live newborns in the State. It diagnosed 50 cases of CAH, yielding an incidence of 1:14,967. Mean age at collection of the first sample was 7.3 days and mean level of 17OHP was 152.9 ng/mL. The most frequent manifestations were virilized genitalia with nonpalpable gonads, clitoromegaly and genital hyperpigmentation. In three girls, the genre established at birth was incorrect. The salt-wasting form was present in 74% of the cases. There was no occurrence of shock or death. Mean age at treatment onset in the salt-wasting form was 17.4 days compared with 54.9 days in those without the salt-wasting form of the disease. All children were treated with hydrocortisone, and those with salt-wasting CAH were also treated with fludrocortisone. The incidence of CAH was 1 case to 14,967 live newborns. Collection of the first sample occurred outside the recommended time, resulting in delays in treatment onset.

Results from 28 years of newborn screening for congenital adrenal hyperplasia in Sapporo City

Newborn mass screening (MS) for congenital adrenal hyperplasia (CAH) was started in 1989 at nationwide of Japan. To date, the goals for prevention of life-threatening salt-wasting crises and prevention of incorrect sex assignment in virilized females are almost achieved. However in Sapporo city, which is located in the northern part of Japan, a pilot study was started in 1982 after the assessment of its feasibility and efficiency. Here we report the results of MS from 1982 to 2010 in Sapporo city. In 28 years, 17-hydroxyprogesterone (17-OHP) was determined in MS samples in 498,147 newborns and a total of 2,466 screened newborns had abnormal 17-OHP. Among them, 26 patients were diagnosed with 21-hydroxylase deficiency (21-OHD), which corresponds to a prevalence of 1:19,160 live birth in Sapporo city. It is almost identical to the worldwide incidence of CAH. Among 26 patients, 20 patients were classified into salt-wasting forms, 5 patients were classified into simple virilizing forms and one was classified into nonclassic forms. 19 patients were female and 7 patients were male. Two familial cases were detected. The mean examination day of 25 patients (data of one patient was not available) was 6.4 days after birth (from 0 to 18 days). Among 18 female patients, 11 patients were clinically suspected because of virilization prior to MS result becoming available and were referred to neonatal center. 4 female patients were referred after MS screening. One female patient was assigned to male after birth; however the patient was diagnosed as having 21-OHD by MS and the sex was changed after the diagnosis. One female patient was a familial case and during pregnancy prenatal treatment was done and her genitalia was normal female. Another one patient having normal female genitalia and no symptom, was diagnosed as nonclassic forms by MS. By contrast to female patients, all 7 male patients were detected by MS. Another type of CAH was not detected in our study. In conclusion, MS for CAH in Sapporo city can be considered reliable.

Newborn screening for congenital adrenal hyperplasia in Cuba: Six years of experience

BackgroundSince 2005, a newborn screening program for congenital adrenal hyperplasia (CAH) by measuring 17-alpha-hydroxyprogesterone (17OHP) in dried blood spots was introduced in Cuba. MethodsThe hormone was measured by the 17OHP Neonatal UMELISA method, in samples collected on the 5th day as average. Confirmatory test was performed to those neonates with 17OHP values above 55nmol/l. Some perinatal factors that can influence on 17OHP levels were studied. ResultsFrom January 2005 to December 2010, 621,303 newborns were screened and 39 CAH cases were detected. Coverage of the program reached 98%. The incidence of CAH in Cuba was 1:15,931, similar to that reported by other programs. A recall for suspected CAH was performed in 10,799 cases (1.74%). Therapy in classical CAH patients was started at the mean age of 22days. 17OHP levels were significantly higher in newborns with lower birth-weight (BW) and/or gestational age (GA). In addition, 17OHP values were affected by the gender, twin status or mode of delivery. ConclusionsIn Cuba, the nationwide newborn screening program has allowed the early detection of CAH. The use of an optimized cut-off level for BW or GA could lead to a reduction in the percentage of recalled babies.

<span class="caption">CASE REPORT:</span> A Girl with 45,X/46,XX Turner Syndrome and Salt Wasting Form of Congenital Adrenal Hyperplasia Due to Regulatory Changes

The incidence of Congenital Adrenal Hyperplasia (CAH) is 1:10,000 - 16,000 worldwide, of which 90% occurs in the CYP21A2 gene coding for steroid 21-hydroxylase. On the other hand, Turner's syndrome, with an incidence of 1:2500, is a form of gonadal dysgenesis which leads to early ovarian failure and other phenotypic changes such as webbed neck, widely-spaced nipples and short stature. Here, we present a girl suffering from both 45,X/46,XX Turner's syndrome and salt wasting (SW) form of CAH. Clinical and biochemical examinations were performed for the patient. Cytogentic studies and molecular testing such as allele specific PCR for eight mutations in the CYP21A2 gene, multiplex ligation probe amplification (MLPA) and direct sequencing confirmed the clinical diagnosis. Heterozygous mutations in the regulatory region at positions -316 to -264 verified SW form of 21-hydroxylase deficiency. 45,X/46,XX mosaicism proved Turner's syndrome. The SW presentation of the patient may be due to the CYP21A1P microconversion. The study of regulatory changes of the CYP21A2 and gender differentiation pathways would be possible using such patients.

Neonatal screening for congenital adrenal hyperplasia

The effectiveness of neonatal screening for reducing morbimortality in children with congenital adrenal hyperplasia (CAH) is the main justification for its implementation. One of the challenges for its implementation is to determine the cutoff value for laboratory measurement of 17-hydroxyprogesterone (17OHP) with appropriate cost-effectiveness. This study identified factors affecting the results of the pilot project of newborn screening for CAH, performed in the state of Minas Gerais, Brazil. Neonatal screening performed between September, 2007 and May, 2008, with 17OHP measurements performed in blood samples taken from the heel (filter paper), on the 5(th) day of life, processed by the UMELISA 17-OH Progesterona NEONATAL(®) method. The cutoff value was 80 and 160 nmol/L for healthy children or not, respectively. The incidence of CAH was 1:19,939 in 159,415 children screened. The 99(th) percentile (p99) of 17OHP in the first sample was 108 nmol/L. In 13,298 newborns whose weight had been reported, the p99 of 17OHP were, respectively: 344 nmol/L for weight < 1,500 g; 260 nmol/L for weight between 1,500 and 1,999 g; 221 nmol/L for weight between 2,000 and 2,499 g; 109 nmol/L for weight ≥ 2,500g. The rate of recall for medical consultation was 0.31%. The test sensitivity was 100%, specificity was 99.6%, and the positive predictive value was 2.2%. By adjusting the cutoff values of 17OHP to 110 nmol/L and 220 nmol/L, a 76% decrease in consultation referrals was projected. The use of 17OHP cutoff values, considering birth weight, was a cost-effective measure to reduce false positives. The results of this pilot study suggest that screening for CAH might benefit the pediatric population.

Triagem neonatal para hiperplasia adrenal congênita

OBJETIVO: A eficacia da triagem neonatal para reducao de morbimortalidade das criancas com hiperplasia adrenal congenita (HAC) e a principal justificativa para sua implantacao. Um dos desafios para sua realizacao e a determinacao do ponto de corte para a medida laboratorial da 17-hidroxiprogesterona (17OHP) que apresente adequado custo/beneficio. Neste estudo foram identificados fatores intervenientes nos resultados do projeto-piloto de triagem neonatal para HAC, realizado em Minas Gerais. METODOS: Rastreamento neonatal entre 09/2007 e 05/2008, com dosagens da 17OHP de amostras de sangue colhidas no calcanhar, no 5o dia de vida (papel-filtro), processadas pelo metodo UMELISA 17-OH Progesterona NEONATAL®. Os pontos de corte foram 80 e 160 nmol/L, para criancas saudaveis ou nao, respectivamente. RESULTADOS: A incidencia de HAC foi 1:19.939 em 159.415 criancas triadas. O percentil 99 (p99) da 17OHP, na primeira amostra, foi 108 nmol/L. Em 13.298 recem-nascidos com peso informado, os p99 da 17OHP foram, respectivamente, 344 nmol/L para 2500 g. A taxa de reconvocacao para consulta medica foi 0,31%. A sensibilidade do teste foi 100%, a especificidade, 99,6% e o valor preditivo positivo, 2,2%. Ajustando-se o ponto de corte da 17OHP para 110 nmol/L e 220 nmol/L, projetou-se reducao em 76% dos encaminhamentos para consulta. CONCLUSAO: Adocao dos pontos de corte para 17OHP, considerando peso de nascimento, apresentou-se como medida custo-efetiva para reducao de falso-positivos. Os resultados desse estudo piloto sugerem que a triagem para HAC possa beneficiar a populacao infantil.

A 30 year review of congenital adrenal hyperplasia in Northern Ireland

Background Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition with significant consequences if not correctly diagnosed and treated. We have reviewed the patients with CAH presenting in Northern Ireland between 1976 and 2010. Aims To determine the age, sex and clinical features at presentation; treatment modalities including perineal surgery in childhood; and long-term outcomes including final height and surgery in adulthood. Methods The medical notes of patients diagnosed with CAH in this time period were reviewed. A literature review was performed and our data compared with that previously published. Results 37 patients (22 female, 15 male) from 30 families presented with CAH over this time period giving an incidence of 1:23,092 live births. 18 (49%) were diagnosed shortly after birth (83% virilised females); 13 (35%) presented in the first few weeks of life with adrenal crises (85% male); and 6 (16%) presented with virilisation in later childhood. 6 (16%) children had diagnosis confirmed on genetic testing. All children required glucocorticoid replacement. 35 (95%) required mineralocorticoid replacement; 3 children were treated with growth hormone and 2 children required suppression of early puberty. Mean final height was −1.5 SD below mean adult height in boys and girls. In the first 16 years reviewed, 8 (80%) girls had perineal surgery in childhood, compared with 2 (16%) in the second 18 years. 2 (9%) women had adrenalectomy. 11 (58%) of those transferred to adult services have been lost to follow-up. Conclusions The incidence of CAH is less here than in the rest of the United Kingdom with more females affected than males. The majority present in the first few weeks of life. Mean final height is often impaired. There is a trend towards later surgery in these patients. A large number of adult patients have been lost to follow-up suggesting a need for improved transitional services.