The Adrenal Cortex and its Disorders

Miller, Walter L.

doi:10.1002/9780470987117.ch15

Cited by 17 publications

(31 citation statements)

References 431 publications

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“…Lifelong glucocorticoid replacement should be performed in cases of congenital adrenal hyperplasia (CAH), both to suppress excessive production of adrenal androgens and to meet the daily cortisol requirements (1,2). Adjustment of steroid dose is very important to provide optimal growth and bone health in children.…”

Section: Introductionmentioning

confidence: 99%

Bone mineral density and vitamin D status in children and adolescents with congenital adrenal hyperplasia

Demirel¹,

Kara²,

Tepe³

et al. 2014

Turk J Med Sci

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To determine the prevalence of and risk factors for decreased bone mineral density (BMD) and vitamin D deficiency in children and adolescents with congenital adrenal hyperplasia (CAH). Materials and methods:This study was conducted on 30 girls and 22 boys with CAH (age range = 5-20 years) with median age of 12.0 years. BMD values of lumbar vertebras (L1-L4), which were determined by dual-energy X-ray absorptiometry, were used to calculate z-scores according to chronological age. A serum 25-hydroxyvitamin D level of <15 ng/mL was considered as indicative of vitamin D deficiency.Results: Mean vitamin D level was 14.8 ng/mL in the whole group. Twenty-seven (51.9%) children had vitamin D deficiency and it was more prevalent during pubertal ages. Vitamin D levels were found to be significantly lower in pubertal females. BMD z-score was below -1 standard deviation in 40.1% of cases with significantly higher mean age and lower vitamin D levels. Conclusion:Decreased BMD z-score and vitamin D deficiency were common in these children with CAH. Vitamin D levels were significantly lower in girls and pubertal children. Decreased BMD z-score was related to older age and lower levels of vitamin D. Periodical controls of vitamin D status and vitamin D supplementation were recommended in these cases, whenever required.

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Section: Introductionmentioning

confidence: 99%

Bone mineral density and vitamin D status in children and adolescents with congenital adrenal hyperplasia

Demirel¹,

Kara²,

Tepe³

et al. 2014

Turk J Med Sci

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“…The backdoor pathway for androgen biosynthesis is relatively novel and its exact role unclear (1). In previous work, we have shown through studies of human mutations in genes involved in the backdoor pathway that it is needed for normal fetal male sexual development, and that the gene expression profile of backdoor pathway genes changes from fetal to adult life in the human testis (16,17).…”

Section: Discussionmentioning

confidence: 99%

“…During the first year of life the steroid metabolome changes remarkably, mainly due to three developmental events (1). First, the fetal-placental-maternal unit, which is a steroid forming and metabolizing unit during pregnancy, is disrupted at birth.…”

Section: Introductionmentioning

confidence: 99%

“…Steroid measurements are first line investigations for diagnosing specific disorders before performing genetic analysis (1,18). For many steroid biosynthetic defects caused by monogenic disorders, the steroid profile reveals characteristic changes, which may be recognized as a diagnostic pattern or as alterations of substrate to product conversion ratios correlating to specific enzyme activities and thus genes.…”

Section: Introductionmentioning

confidence: 99%

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Androgen biosynthesis during minipuberty favors the backdoor pathway over the classic pathway: Insights into enzyme activities and steroid fluxes in healthy infants during the first year of life from the urinary steroid metabolome

Dhayat

Dick

Frey

et al. 2017

The Journal of Steroid Biochemistry and Molecular Biology

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during minipuberty favors the backdoor pathway over the classic pathway: insights into enzyme activities and steroid fluxes in healthy infants during the first year of life from the urinary steroid metabolome, Journal of Steroid Biochemistry and Molecular Biology http://dx.doi.org/10. 1016/j.jsbmb.2016.07.009 This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. Highlights-Male androgen biosynthesis shows a significant peak at week 7 during minipuberty -Androgens in minipuberty are (at least in part) produced through the backdoor pathway -Steroid enzyme activities in the first year of life are all age-, some sex-specific -Steroid enzyme ratios obtained from urine GC-MS are comparable between laboratories AbstractThe steroid profile changes dramatically from prenatal to postnatal life. Recently, a novel backdoor pathway for androgen biosynthesis has been discovered. However, its role remains elusive. Therefore, we investigated androgen production from birth to one year of life with a focus on minipuberty and on production of androgens through the backdoor pathway. Additionally, we assessed the development of the specific steroid enzyme activities in early life. To do so, we collected urine specimens from diapers in 43 healthy newborns (22 females) at 13 time points from birth to one year of age in an ambulatory setting, and performed in house GC/MS steroid profiling for 67 steroid metabolites. Data were analyzed for androgen production through the classic and backdoor pathway and calculations of diagnostic ratios for steroid enzyme activities were performed. Analysis revealed that during minipuberty androgen production is much higher in boys than in girls (e.g. androsterone (An)), originates largely from the testis (An boysAn girls ), and uses predominantly the alternative backdoor pathway (An/Et; Δ5<Δ4 lyase activity).Modelling of steroid enzyme activities showed age-related effects for 21-, 11-, 17-hydroxylase and P450 oxidoreductase activities as well as 3β-hydroxysteroid dehydrogenase, 11β-hydroxylase type 1/2 and 5α-reductase activities. Sex-related characteristics were found for 21-hydroxylase and 5α-reductase activities.Overall, our study shows that androgen biosynthesis during minipuberty favors the backdoor pathway over the classic pathway. Calculations of specific diagnostic ratios for enzyme activities seem to allow the diagnosis of specific steroid disorders from the urinary steroid metabolome.

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“…10 Differantial diagnosis of adrenal insufficiency includes, congenital adrenal hyperplasia, adrenoleukodystrophy, adrenal hypoplasia, autoimmune disorders, metabolic disorders, syndromic causes and acquired conditions such as adrenal hemorrage, trauma and infections. 1,2 We excluded these diseases by history, physical examination and appropriate laboratory findings. Congenital adrenal hyperplasia was excluded by hormone analysis, normal female genitalia and chromosome analysis.…”

Section: Discussionmentioning

confidence: 99%

Familial Glucocorticoid Defificiency in a Newborn Caused by a Mutation in Melanocortin 2 Receptor: Case Report

Kavurt¹,

Özbek²,

Güran³

2017

Turkiye Klinikleri J Case Rep

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A AB BS ST TR RA AC CT T Familial glucocorticoid deficiency (FGD) is one of the genetic causes of primary adrenal insufficiency (PAI) in children. It is characterized by glucocorticoid deficiency in the absence of mineralocorticoid deficiency. Most of cases are attributable to mutations in one of three genes: MC2R, MRAP, and STAR. NNT and MCM4 genes are recently discovered FGD causal genes. Patients typically present with hyperpigmentation, hypoglycemic seizures in the neonatal period. Herein we report a newborn diagnosed as PAI with generalized hyperpigmentation and hypoglycemia. Genetic analysis revealed c.560.delT homozygous mutation in MC2R gene. FGD should be kept in mind in hyperpigmented newborns with hypoglycemia in whom congenital adrenal hyperplasia is excluded.K Ke ey yw wo or rd ds s: : Hypoglycemia; hyperpigmentation; adrenal insufficiency Ö ÖZ ZE ET T Familyal glukokortikoid eksikliği (FGE) çocuklarda görülen primer adrenal yetmezliğin genetik nedenlerindendir. Hastalarda aldestron düzeyleri normal iken izole glukokortikoid eksikliği görülür. Familyal glukokortikoid eksikliği, çoğu olguda MC2R, MRAP ve STAR genlerindeki mutasyonlardan kaynaklanır. Hastalık yenidoğan döneminde hiperpigmentasyon ve hipoglisemi şek-linde bulgu verir. Bu makalede hipoglisemi ve hiperpigmentasyon ile primer adrenal yetmezlik bulgusu olan yenidoğan olgu sunulmuştır. Genetik çalışmada MC2R geninde c.560.delT mutasyonu saptanmıştır. Konjenital adrenal hiperplazinin dışlandığı olgularda, hipoglisemi ve hiperpigmentasyon varlığında ayırıcı tanıda FGE düşünülmelidir.A An na ah ht ta ar r K Ke el li im me el le er r: : Hipoglisemi; hiperpigmentasyon; adrenal yetmezlik

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The Adrenal Cortex and its Disorders

Cited by 17 publications

References 431 publications

Bone mineral density and vitamin D status in children and adolescents with congenital adrenal hyperplasia

Bone mineral density and vitamin D status in children and adolescents with congenital adrenal hyperplasia

Androgen biosynthesis during minipuberty favors the backdoor pathway over the classic pathway: Insights into enzyme activities and steroid fluxes in healthy infants during the first year of life from the urinary steroid metabolome

Familial Glucocorticoid Defificiency in a Newborn Caused by a Mutation in Melanocortin 2 Receptor: Case Report

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