Newborn screening for congenital adrenal hyperplasia: beyond 17-hydroxyprogesterone concentrations

Witchel, Selma F.

doi:10.1016/j.jped.2018.06.003

Cited by 10 publications

(8 citation statements)

References 23 publications

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“…The androgen excess in NCAH does not cause prenatal virilisation of the external genitalia in 46,XX foetuses. The increase in 17OHP in the neonatal period is usually not large enough for the children to be identified by the neonatal screening programmes, which are designed to pick up patients at risk of adrenal crisis (9,34,35,36,37,38). Therefore, only a smaller number of individuals are identified in the neonatal period.…”

Section: Childhoodmentioning

confidence: 99%

“…Therefore, only a smaller number of individuals are identified in the neonatal period. Screening programmes with a second screen at 14 days of age are more likely to identify NCAH since the 17OHP level often increases over time in CAH (35,36,37,38,39).…”

Section: Childhoodmentioning

confidence: 99%

“…Neonatal screening in Sweden identifies all cases with SW CAH, but it may miss some patients with SV CAH and only 12 cases with NCAH were detected in 2.7 million screened babies (37). The majority of individuals with NCAH will not be detected by screening (35,37,38). Moreover, 24 of the 38 (63%) diagnosed patients with NCAH were not detected in the screening (36).…”

Section: Diagnosismentioning

confidence: 99%

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MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency

Nordenström

Falhammar

2019

European Journal of Endocrinology

112

129

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Non-classic congenital adrenal hyperplasia (NCAH) is a relatively common disorder regardless of ethnicity, but most cases are never diagnosed, especially in males. A baseline 17-hydroxyprogesterone measurement may be used for screening, but 17-hydroxyprogesterone measurement after ACTH stimulation is the gold standard. We advocate a CYP21A2 mutation analysis to verify the diagnosis, for genetic counselling and for better prognostic and treatment guidance. Most patients are diagnosed in adolescence and adult life with hirsutism, acne, a PCOS-like picture and fertility issues. Many men with NCAH never seek medical attention and escape diagnosis. Although treatment is somewhat controversial, an early diagnosis and start of treatment may have positive implications on growth and be relevant for preventing and ameliorating the symptoms and consequences of androgen excess that develop over time, including fertility issues. Long-term treatment with glucocorticoids will improve the androgen symptoms but may result in long-term complications, such as obesity, insulin resistance, hypertension, osteoporosis and fractures. The glucocorticoid doses should be kept low. However, complications seen in NCAH, assumed to be caused by the glucocorticoid treatment, may also be associated with long-term androgen exposure. Oral contraceptive pills are a common treatment option for young females with NCAH. Regular clinical monitoring to improve the clinical outcome is recommended. It is important to acknowledge that glucocorticoid treatment will lead to secondary cortisol insufficiency and the need for stress dosing. Studies focusing on the specific difficulties patients with NCAH face, both those with a late clinical diagnosis and those with a neonatal diagnosis obtained by screening, are warranted.

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Section: Childhoodmentioning

confidence: 99%

Section: Childhoodmentioning

confidence: 99%

Section: Diagnosismentioning

confidence: 99%

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MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency

Nordenström

Falhammar

2019

European Journal of Endocrinology

112

129

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“…При поздней диагностике и отсутствии соответствующего лечения к антенатальному воздействию андрогенов добавляется и постнатальное, что в совокупности с соответствующим воспитанием может приводить к формированию мужской половой идентичности у таких пациенток. Осуществление скрининга новорожденных на ВГН значительно снижает риск диагностических ошибок [31,32].…”

Section: выбор половой принадлежностиunclassified

Disorders of sex differentiation: state of the problem 15 years after the Chicago consensus

Shiryaev

Kagantsov

Сизонов

2020

Probl Endokrinol (Mosk)

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It is well known that the nomenclature and classification were changed in 2005 at the international consensus conference on intersex disorders, held in Chicago, where, among others, the following recommendations were proposed: (1) all children should be assigned a gender identity, and this should be done as quickly as possible, taking into account the time required for the examination. (2) all infants with congenital adrenal hyperplasia and 46,XX karyotype, including those with pronounced masculinization, must be raised as women. (3) Surgical treatment should be performed early and in cases of feminizing genitoplasty, clitoral reduction should be performed simultaneously with reconstruction of the urogenital sinus (separation of the vagina and urethra). An analysis of contemporary literature shows that all these theories, proposed 15 years ago at the Chicago meeting, failed to stand the test of time. New nomenclature and classification are constantly being revised. Currently, many groups of patients want to abolish the term sexual maturity disorders. Recommendations regarding gender reassignment and appropriate early surgical treatment have been completely ignored in some countries. All this was largely facilitated by the confrontational activities of a number of support groups.

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“…6 Since the initiation of the NBS in the Philippines, fluorescent immunoassay is the recommended laboratory method for NBS of CH, CAH, and CF. 1,[7][8][9] Automated methods for detecting TSH and 17-OHP use solid phase time-resolved fluorescent immunoassay. Solid-phase methods utilize a washing step to separate the bound analyte, which is immobilized by the antibody attached to a solid support, from the unbound, which is washed away.…”

Section: Introductionmentioning

confidence: 99%

Commercially Bottled Purified Water as an Alternative Instrument Feed Water in Automated Time-Resolved Fluorescent Immunoassay for TSH, 17-OHP and IRT in Neonatal Screening

VIllanueva¹,

Bumalay²,

Rivera³

2018

PJP

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Objective. The study was undertaken to determine if commercially bottled purified water can be used as substitute instrument feed water for three (3) newborn screening immunoassays. Methodology.A total of 294 control samples and 300 patient samples were included in this study. Accuracy and precision studies using control samples, and parallel testing using patient samples, were done to compare the use of clinical laboratory reagent water (CLRW) and commercially bottled purified water (CBPW) in the performance of automated time-resolved fluorescent immunoassay of thyroid stimulating hormone (TSH), 17α-OH-progesterone (17-OHP) and immunoreactive trypsinogen (IRT).Results. The use of CBPW as instrument feed water for measurements of TSH, 17-OHP and IRT levels by automated time-resolved fluorescent immunoassay using AutoDELFIA (Perkin-Elmer) in NBS has an acceptable accuracy and precision compared to using CLRW. The parallel testing using patient samples showed that, overall, the performance of using CBPW in automated time-resolved fluorescent immunoassay for TSH, 17-OHP, and IRT is acceptable, compared with using CLRW as instrument feed water. Conclusion.Commercially bottled purified water can be used as substitute when setting up a laboratory water purification system is too expensive for a laboratory, or as back up to clinical laboratory reagent water when there is breakdown of the installed water purification system to be used as instrument feed water in automated time-resolved fluorescent immunoassay of TSH, 17-OHP and IRT in NBS using AutoDELFIA (Perkin-Elmer).

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Newborn screening for congenital adrenal hyperplasia: beyond 17-hydroxyprogesterone concentrations

Cited by 10 publications

References 23 publications

MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency

MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency

Disorders of sex differentiation: state of the problem 15 years after the Chicago consensus

Commercially Bottled Purified Water as an Alternative Instrument Feed Water in Automated Time-Resolved Fluorescent Immunoassay for TSH, 17-OHP and IRT in Neonatal Screening

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