An Update of Congenital Adrenal Hyperplasia

New, Maria I.; Dupont, Bo; Pang, Songja; Pollack, Marilyn S.; Levine, Lenore S.

doi:10.1016/b978-0-12-571137-1.50008-6

Cited by 74 publications

(75 citation statements)

References 269 publications

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“…Buildup of intermediate products leads to their conversion to T, and consequently highly elevated circulating T in affected XX CAH fetuses. This elevated level of T begins in the seventh week of gestation (Speiser and White 2003;Trakakis et al 2009) and "the developing fetus is exposed to the excessive adrenal androgens, equivalent to the male fetal level, secreted by the hyperplastic adrenal cortex" (New 2004), including the period of maximal average T excess in XY fetuses (Forest 1985). Despite a male-typical level of T throughout fetal development, the genitalia of XX newborns with CAH are usually only partially masculinizedabout halfway between a typical male and female genital (Hall et al 2004), as is childhood sexually dimorphic behavior (Hines 2011).…”

Section: Sex Hormone Differences Are Notmentioning

confidence: 99%

Homosexuality as a Consequence of Epigenetically Canalized Sexual Development

Rice

Friberg²,

Gavrilets³

2012

The Quarterly Review of Biology

116

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Section: Sex Hormone Differences Are Notmentioning

confidence: 99%

Homosexuality as a Consequence of Epigenetically Canalized Sexual Development

Rice

Friberg²,

Gavrilets³

2012

The Quarterly Review of Biology

116

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“…Inadequate therapy may cause short-term and long-term complications, such as electrolyte imbalances, Addisonian crises, accelerated bone maturation, short stature, hirsutism and virilization, and decreased fertility. 1,2 In this context, some studies reported higher rates of overweight and obesity among patients with CAH. In one of the first studies, Knorr and Hinrichsen-de-Lienau 3 found a significant relationship between overtreatment with hydrocortisone during the first 2 years of life and later development of obesity among young adults.…”

mentioning

confidence: 99%

Obesity Among Children and Adolescents With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

et al. 2006

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OBJECTIVES. Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most common inherited disorder of adrenal steroid biosynthesis. Patients with the classic form of CAH show androgen excess, with or without salt wasting. There are few studies reporting on higher rates of overweight and obesity among children with CAH. In addition to its role in the regulation of energy balance, leptin is involved in various endocrine and metabolic pathways. In this context, elevated serum leptin levels were reported recently for patients with CAH and were thought to be involved in the development of obesity among these patients. Therefore, the aim of this study was to analyze BMI values, compared with population-based references, for children and adolescents with CAH. Possible contributing factors, such as glucocorticoid therapy, skeletal maturation, birth weight and length, and parental BMI, were correlated with current BMI SD scores (SDS). In addition, the implications of serum leptin levels, corrected for BMI, gender, and Tanner stage, were investigated.METHODS. We performed a cross-sectional retrospective study of 89 children and adolescents with CAH (48 female and 41 male subjects; age: 0.2-17.9 years) who presented in our outpatient department during 1 year. All individuals had classic CAH, confirmed with molecular genetic analyses, and received substitution therapy (glucocorticoids and mineralocorticoids, if necessary). The quality of therapy was monitored in follow-up visits every 3 to 6 months, on the basis of clinical presentation and laboratory measurement findings according to current guidelines. We grouped the patients into salt wasting and simple virilizing groups, as well as according to current metabolic control. Leptin levels were measured with a commercial radioimmunoassay and calculated as SDS. For statistical analyses, standard parametric and nonparametric methods were used.RESULTS. The chronologic ages of the children with CAH were between 0.20 and 17.9 years (mean Ϯ SD: 8.9 Ϯ 4.6 years). The BMI SDS of the whole group ranged from Ϫ2.7 to 4.3 (mean Ϯ SD: 0.88 Ϯ 1.3) and was significantly elevated above 0.www.pediatrics.org/cgi

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“…Nosso estudo encontrou proporção igual entre os sexos, diferente do citado na maioria dos estudos feitos antes do estabelecimento da triagem neonatal para a HAC. Com a falta de diagnóstico precoce dos homens perdedores de sal, os mesmos morriam mais do que as mulheres, as quais são diagnosticadas pela ambigüidade genital, fazendo predominar as mulheres entre os perdedores de sal (16)(17)(18) .…”

Section: Discussionunclassified

Hiperplasia adrenal congênita por deficiência da 21-hidroxilase, forma clássica: estudo da freqüência em famílias de indivíduos afetados

Bento

Ramos

Gonçalves

et al. 2007

Rev. paul. pediatr.

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OBJETIVOS: Analisar a freqüência de indivíduos afetados e das formas clínicas da doença, de acordo com o gênero e a taxa de consangüinidade, em famílias com hiperplasia adrenal congênita (HAC) por deficiência da enzima 21-hidroxilase, forma clássica (HAC-D21-OHC). MÉTODOS: A casuística foi composta por 58 famílias com 79 indivíduos afetados (67 vivos e 12 mortos) com pais normais e pelo menos um filho afetado vivo com diagnóstico comprovado da doença. A freqüência de indivíduos afetados foi avaliada pelas técnicas de Haldane e Hogben, com análise por seleção truncada. Também foram avaliadas a história parental de consangüinidade e a freqüência de homozigose de mutações no gene CYP21A2, bem como a forma clínica da doença e a distribuição por gênero. RESULTADOS: Dez famílias apresentaram história de consangüinidade entre os pais e mais cinco com homozigose no estudo molecular. A freqüência de indivíduos afetados nas irmandades avaliadas foi de 23,5%, semelhante à esperada de 25%; no entanto, com distribuição heterogênea. Quanto às formas clínicas, 56 (70%) eram perdedores de sal (25M:31F) e 23 (30%) virilizantes simples (10M:13F), não sendo observada diferença na distribuição entre os gêneros. CONCLUSÕES: Estes dados confirmam que a HAC-D21-OHC apresenta padrão de herança monogênica autossômica recessiva, com freqüência de 23,5% na irmandade de indivíduos afetados, elevada taxa de consangüinidade e proporção semelhante entre os gêneros, porém com distribuição heterogênea no número de casos nas irmandades e predomínio da forma clínica perdedora de sal.

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An Update of Congenital Adrenal Hyperplasia

Cited by 74 publications

References 269 publications

Homosexuality as a Consequence of Epigenetically Canalized Sexual Development

Homosexuality as a Consequence of Epigenetically Canalized Sexual Development

Obesity Among Children and Adolescents With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Hiperplasia adrenal congênita por deficiência da 21-hidroxilase, forma clássica: estudo da freqüência em famílias de indivíduos afetados

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