Autopsy Diagnosis of 21-Hydroxylase Deficiency CAH in a Case of Apparent SIDS

Gozzi, T.; Harris, Naomi P.; McGown, Ivan; Cowley, David; Cotterill, Andrew; Campbell, P. E.; Anderson, Peter K; Warne, Garry L.

doi:10.1007/s10024-005-0004-0

Cited by 16 publications

(14 citation statements)

References 13 publications

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“…3,12,17 Three cases of C-CAH were identified in a retrospective analysis of 242 neonatal blood samples from cases of unexplained sudden infant death in the Czech Republic and Austria. 18 Mortality from SW CAH in populations that do not undergo neonatal screening was recently estimated to be 4% in contemporary, developed economies. 18 Mortality from SW CAH in populations that do not undergo neonatal screening was recently estimated to be 4% in contemporary, developed economies.…”

Section: Discussionmentioning

confidence: 99%

Ethnic and gender differences in rates of congenital adrenal hyperplasia in Western Australia over a 21 year period

Shetty¹,

Bower²,

Jones³

et al. 2012

J Paediatrics Child Health

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The estimated incidence of classical CAH is similar to composite worldwide data. The increased female-to-male ratio is not in keeping with the expected sex distribution seen in a recessively inherited disease. The delayed diagnosis in males, with a significant proportion presenting with adrenal crisis, could be avoided with newborn screening. The higher rate of CAH in patients with Aboriginal ethnicity is a novel observation.

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Section: Discussionmentioning

confidence: 99%

Ethnic and gender differences in rates of congenital adrenal hyperplasia in Western Australia over a 21 year period

Shetty¹,

Bower²,

Jones³

et al. 2012

J Paediatrics Child Health

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“…The index case PI5 and an affected sibling have been previously described in a case report 36 . Additional genotyping data on family members is reported herein.…”

Section: Proband / Family 15mentioning

confidence: 99%

21-Hydroxylase Genotyping in Australasian Patients with Congenital Adrenal Hyperplasia

Jeske¹,

McGown²,

Harris³

et al. 2009

Journal of Pediatric Endocrinology and Metabolism

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Mutations in CYP21 (21-hydroxylase) lead to congenital adrenal hyperplasia (CAH). We genotyped 26 probands with CAH by PCRsequencing the entire CYP21 gene. 25/26 had homozygous or compound heterozygous mutations. The frequencies of mutations were similar to other populations with deletion/hybrid, 12 G splice and I172N the most common. Five patients with a 1172N allele predicting simplevirilising CAH had a salt-wasting phenotype. Two other probands also had a more severe phenotype than predicted by genotype. Two families had both non-classic and salt-wasting phenofypes arising from combinations of three deleterious alleles. Two novel CYP21 alleles were detected: D106N and a large deletion encompassing CYP21 and adjacent pseudogene. Two rare CYP21 alleles were also found. Three of these four novel/rare alleles were only detected as a result of sequencing the entire CYP21 gene. Entire CYP21 sequencing will increase the number of mutations detected in CAH, and in combination with functional studies should contribute a greater understanding of phenotype-gcnotype correlations. KEY WORDScongenital adrenal hyperplasia, 21-hydroxylase deficiency, genotyping

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“…These typically include risks of malignancy, osteoporosis, adrenal crisis and urinary passage obstruction [22,23,24,25]. …”

Section: Basis and Application Of The Principlesmentioning

confidence: 99%

Ethical Principles for the Management of Infants with Disorders of Sex Development

Gillam

Hewitt²,

Warne³

2010

Horm Res Paediatr

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The Fifth World Congress on Family Law and Children’s Rights (Halifax, August 2009) adopted a resolution endorsing a new set of ethical guidelines for the management of infants and children with disorders of sex development (DSD) [www.lawrights.asn.au/index.php?option=com_content&view=article&id=76&Itemid=109]. The ethical principles developed by our group were the basis for the Halifax Resolution. In this paper, we outline these principles and explain their basis. The principles are intended as the ethical foundation for treatment decisions for DSD, especially decisions about type and timing of genital surgery for infants and young children. These principles were formulated by an analytic review of clinician reasoning in particular cases, in relation to established principles of bioethics, in a process consistent with the Rawlsian concept of reflective equilibrium as the method for building ethical theory. The principles we propose are: (1) minimising physical risk to child; (2) minimising psychosocial risk to child; (3) preserving potential for fertility; (4) preserving or promoting capacity to have satisfying sexual relations; (5) leaving options open for the future, and (6) respecting the parents’ wishes and beliefs.

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Autopsy Diagnosis of 21-Hydroxylase Deficiency CAH in a Case of Apparent SIDS

Cited by 16 publications

References 13 publications

Ethnic and gender differences in rates of congenital adrenal hyperplasia in Western Australia over a 21 year period

Ethnic and gender differences in rates of congenital adrenal hyperplasia in Western Australia over a 21 year period

21-Hydroxylase Genotyping in Australasian Patients with Congenital Adrenal Hyperplasia

Ethical Principles for the Management of Infants with Disorders of Sex Development

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