Worldwide Experience in Newborn Screening for Classical Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Pang, Songya; Wallace, Michael A.; Hofman, L F; Thuline, Horace C.; Dorche, C.; Lyon, I.; Dobbins, R.H.; Kling, S.; Fujieda, K; Suwa, Seizo

doi:10.1016/s0022-5347(17)42164-1

Cited by 188 publications

(227 citation statements)

References 0 publications

Supporting

Mentioning

196

Contrasting

Unclassified

Order By: Relevance

“…45,46 The prevalence in specific populations varies, including 1:10,000 -1:23,000 in the United States and Europe, 47 1:21,000 in Japan, 48 1:27,000 in New Zealand, 49 and 1:6,000 in China 50 and India 51 . NCCAH is one of the most common autosomal recessive disorders in humans and affects approximately 1 in 1000 individuals.…”

Section: Population Genetics and Ethnic Diversity Of Cyp21a2 Genotypesmentioning

confidence: 99%

“…3,45,103 The chance that a patient with classic CAH will have a child with classic CAH is 1 in 120 (chance of partner being a carrier [1/60] × 1/2) if the carrier status of the partner is unknown. For NCCAH, about two thirds of patients are compound heterozygotes, carrying one allele that causes classic CAH and one that causes NCCAH.…”

Section: Genetic Counseling Of Patients With Congenital Adrenal Hypermentioning

confidence: 99%

See 1 more Smart Citation

Genetics of Congenital Adrenal Hyperplasia

Hannah‐Shmouni

Chen²,

Merke

2017

Endocrinology and Metabolism Clinics of North America

View full text Add to dashboard Cite

Section: Population Genetics and Ethnic Diversity Of Cyp21a2 Genotypesmentioning

confidence: 99%

Section: Genetic Counseling Of Patients With Congenital Adrenal Hypermentioning

confidence: 99%

Genetics of Congenital Adrenal Hyperplasia

Hannah‐Shmouni

Chen²,

Merke

2017

Endocrinology and Metabolism Clinics of North America

View full text Add to dashboard Cite

“…6,7 shows neither an increased nor a decreased incidence in Finland, but one (1 in 15 000 newborns) consistent with that reported worldwide. 8,9 In clear contrast to the diseases of the Finnish disease heritage, multiple independent founder mutations each associated with a particular haplotype are found in CAH in Finland. 10 Therefore, CAH could serve as a model for investigating the genetic features underlying a 'classic' inherited disease in Finland.…”

Section: Introductionmentioning

confidence: 99%

Tracing past population migrations: genealogy of steroid 21-hydroxylase (CYP21) gene mutations in Finland

et al. 1999

View full text Add to dashboard Cite

The genealogic origin of steroid 21-hydroxylase gene (CYP21) mutations and associated haplotypes was determined in 74 unrelated Finnish families with CYP21 deficiency (congenital adrenal hyperplasia, CAH). These families account for two thirds (85/119) of all diagnosed patients of Finnish descent found in this country. We recently demonstrated that multiple founder mutations each associated with a particular haplotype can be found in Finland. Interestingly, some of the haplotypes were identical to those observed in various European populations, whereas others have not been described elsewhere, indicating a local and perhaps a more recent origin. In the present report we show that each of the major founder haplotypes originates from a particular geographic region of Finland. Thus many local genetic isolates are to be expected in Finland. Our finding is in a clear contrast to the genetic diseases known as the 'Finnish disease heritage', in which only one mutation usually predominates. Some of the CYP21 haplotypes proved very informative for analysis of the history of the Finnish population. For example, the origin of one frequent haplotype was shown to cluster in a region assumed by archaeological data to be a major site of immigration by settlers of either Scandinavian or Baltic origin during the first centuries AD. As this haplotype is frequent in many European patient populations, we provide independent genetic evidence of this Iron Age immigration. On the other hand, another frequent haplotype found solely in Finland reflects a more recent (post 15th century) settlement expansion. Consequently, well characterised and sufficiently frequent autosomal gene markers can provide useful information on migrations both between and within populations.

show abstract

“…Newborn screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency is becoming feasible in some centers. 29 This obviously will increase early recognition and proper sex assignment. It is especially important in genetic males who, at birth, lack the clinical evidence of this condition.…”

Section: Discussionmentioning

confidence: 99%

Sex Reassignment: A Challenging Problem—Current Medical and Islamic Guidelines

et al. 1996

View full text Add to dashboard Cite

Sexual ambiguity is a complex and often confusing medical problem. In addition to the life-threatening adrenal crises which may accompany some forms, ambiguity of the genitalia may lead to incorrect sex assignment by parents and/or health personnel. Children who present to medical attention beyond the neonatal period constitute a challenging problem due to the grave consequences of this condition. Thirty cases in whom sex reassignment was indicated were seen at King Khalid University Hospital, Riyadh, over a 10-year period. Of these, 27 (90%) were genetic females (20 were 21-and seven were 11-hydroxylase deficient) and three (10%) were genetic males (two partial androgen insensitive and one 5α-reductase deficient). All genetic males who were incorrectly assigned as females accepted reassignment. But 9 out of 27 (33%) of the genetic females who were incorrectly assigned as males refused reassignment. Preference for male sex assignment, delayed diagnosis and sociocultural circumstances seem to be the contributing factors for refusal. A national consensus about this important issue strengthened by the existing religious recommendations is demanded. Ambiguous genitalia are a social and medical emergency.1,2 Sex assignment of the newborn is usually based on the external genitalia. If this is abnormal, it may be difficult to correctly assign the sex. An incorrect decision can lead to a major dilemma for the child, parents and other members of the family, friends and health personnel, who find themselves confused and in a difficult and unimaginable situation.3 In a community where this condition is. not uncommon, 1,4-7 health personnel will continue to face improperly sex-assigned children and young adults at different ages and circumstances. In this study, we retrospectively reviewed 30 cases in which sex reassignment was indicated. We also discuss the present Islamic guidelines regarding this matter and call for an urgent and unified national consensus, based on the basic scientific knowledge available and supported and approved by the existing Islamic recommendations. Material and MethodsThe medical records of 30 cases in whom sex reassignment was indicated, seen at King Khalid University Hospital (KKUH), Riyadh, over a 10-year period starting in September 1984, were analyzed. Genetic sex was based on chromosomal studies done on lymphocytes. Additional tests included genitogram and pelvic ultrasonography. Definitive etiological diagnosis was based on elevated 17 α-hydroxy, progesterone in 21-hydroxylase (P450C21) deficiency, elevated 11-deoxycortisone (compound S) in 11β-hydroxylase (P450C11) deficiency, elevated baseline and human chorionic gonadotropin (HCG) stimulated testosterone (T) to dihydrotestosterone (DHT) ratio in 5α-reductase deficiency and satisfactory penile length response to HCG and T in the presence of normal T/DHT ratio in partial androgen insensitivity (Figure 1). In view of the medical recommendation and the available Islamic guidelines, a final decision for the final diagnosis, outcome and recom...

show abstract

Worldwide Experience in Newborn Screening for Classical Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Cited by 188 publications

References 0 publications

Genetics of Congenital Adrenal Hyperplasia

Genetics of Congenital Adrenal Hyperplasia

Tracing past population migrations: genealogy of steroid 21-hydroxylase (CYP21) gene mutations in Finland

Sex Reassignment: A Challenging Problem—Current Medical and Islamic Guidelines

Contact Info

Product

Resources

About