scholarly journals Congenital Adrenal Hyperplasia with Salt Wasting Crisis: A Case Report

2020 ◽  
Vol 58 (221) ◽  
Author(s):  
Deependra Mandal ◽  
Deepa Khanal ◽  
Rajan Phuyal ◽  
Uttara Adhikari
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Elevated Level ◽  
Autosomal Recessive ◽  
Oral Prednisolone ◽  
Severe Form ◽  
Adrenal Hyperplasia ◽  
Autosomal Recessive Disorders ◽  
Salt Wasting ◽  
17 Hydroxyprogesterone ◽  
Recessive Disorders

Congenital Adrenal Hyperplasia is a group of autosomal recessive disorders due to deficienciesof enzymes involved in steroidogenesis. The most common form is a 21-hydroxylase deficiencywhich can be classical or non-classical. The severe form also called Classical Congenital AdrenalHyperplasia is usually detected after birth to infant period. If Congenital Adrenal Hyperplasia is notdiagnosed and treated early, neonates are susceptible to sudden death in the early weeks of life. Wereport a case of thirty-five days male with a salt-wasting variant of congenital adrenal hyperplasia.The diagnosis was based on an elevated level of 17-hydroxyprogesterone. He was managed and lifelong oral Prednisolone and Fludrocortisone were prescribed.

scholarly journals A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature

2020 ◽  
Author(s):  
Maria Laura Iezzi ◽  
Gaia Varriale ◽  
Luca Zagaroli ◽  
Stefania Lasorella ◽  
Marco Greco ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Autosomal Recessive ◽  
Homozygous Mutation ◽  
Adrenal Hyperplasia ◽  
Phenotype Correlation ◽  
Hydroxylase Deficiency ◽  
Autosomal Recessive Disorders ◽  
Salt Wasting ◽  
21 Hydroxylase Deficiency ◽  
Recessive Disorders

AbstractCongenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency represents a group of autosomal recessive disorders characterized by impaired cortisol production due to altered upstream steroid conversions, subclassified as classic and nonclassic forms. The genotype–phenotype correlation is possible in the most frequent case but not in all. Despite in literature many mutations are known, there is the possibility of finding a new genetic pattern in patients with CAH.

scholarly journals Congenital adrenal hyperplasia in pregnancy: approach depends on who is the ‘patient’

2012 ◽  
Vol 5 (4) ◽  
pp. 154-160 ◽  
Author(s):  
Erin Keely ◽  
Janine Malcolm
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Autosomal Recessive ◽  
First Trimester ◽  
Female Child ◽  
Fetal Exposure ◽  
Adrenal Hyperplasia ◽  
Autosomal Recessive Disorders ◽  
Adrenal Steroid ◽  
Recessive Disorders ◽  
In Pregnancy

Congenital adrenal hyperplasia (CAH) is a group of autosomal-recessive disorders caused by a reduced or absent enzymatic activity at one of the stages of adrenal steroid biosynthesis. Prenatal exposure to androgens leads to external genital masculinization of the affected female child. In pregnancy, the provider may be optimizing care for the woman with CAH or targeting treatment to reduce virilization in the affected unborn child. For the affected adult woman the goals of therapy in pregnancy are to prevent adrenal insufficiency, reduce fetal exposure to androgens and glucocorticoids and to avoid damage to reconstructed genitalia. For prenatal therapy for prevention of virilization of possibly affected female children, dexamethasone is used. However, questions remain about the efficacy and safety of exposing 7/8 unaffected children in the first trimester. Prenatal treatment should only be undertaken after careful discussion with the parents of the risks and benefits in an experienced centre or as part of a research protocol.

scholarly journals Molecular genetic verification of isolated mineralocorticoid deficiency due to aldosterone synthase deficiency

2009 ◽  
Vol 55 (1) ◽  
pp. 28-30
Author(s):  
N Yu Kalinchenko ◽  
N A Zubkova ◽  
A N Tyulpakov
Keyword(s):  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Autosomal Recessive Disorder ◽  
Adrenal Hyperplasia ◽  
Genetic Studies ◽  
Aldosterone Synthase ◽  
Salt Wasting ◽  
History Of ◽  
17 Hydroxyprogesterone ◽  
Aldosterone Synthase Deficiency

Isolated mineralocorticoid deficiency is a rare hereditary autosomal recessive disorder that is characterized by salt wasting and that has the severest manifestations in infants. This paper is the first in the Russian literature to describe cases of isolated aldosterone deficiency. In both cases, the patients were monitored and treated for misdiagnosed congenital adrenal hyperplasia; however, the permanently low level of 17-hydroxyprogesterone could put in doubt the diagnosis and suspect isolated mineralocorticoid deficiency, by keeping in mind a history of salt wasting. By using the presented cases as an example, the authors give an algorithm for the examination and differential diagnosis of this condition and other diseases that have the similar clinical picture. Aldosterone synthase deficiency in patients was verified by molecular genetic studies - there were mutations in the CYP112 gene.

scholarly journals Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia

2014 ◽  
Vol 3 (2) ◽  
pp. 67-74 ◽  
Author(s):  
Ingeborg Brønstad ◽  
Lars Breivik ◽  
Paal Methlie ◽  
Anette S B Wolff ◽  
Eirik Bratland ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Gene Encoding ◽  
Salt Wasting ◽  
Functional Studies ◽  
Norwegian Population ◽  
Liquid Chromatography Tandem Mass ◽  
17 Hydroxyprogesterone

In about 95% of cases, congenital adrenal hyperplasia (CAH) is caused by mutations in CYP21A2 gene encoding steroid 21-hydroxylase (21OH). Recently, we have reported four novel CYP21A2 variants in the Norwegian population of patients with CAH, of which p.L388R and p.E140K were associated with salt wasting (SW), p.P45L with simple virilising (SV) and p.V211M+p.V281L with SV to non-classical (NC) phenotypes. We aimed to characterise the novel variants functionally utilising a newly designed in vitro assay of 21OH enzyme activity and structural simulations and compare the results with clinical phenotypes. CYP21A2 mutations and variants were expressed in vitro. Enzyme activity was assayed by assessing the conversion of 17-hydroxyprogesterone to 11-deoxycortisol by liquid chromatography tandem mass spectroscopy. PyMOL 1.3 was used for structural simulations, and PolyPhen2 and PROVEAN for predicting the severity of the mutants. The CYP21A2 mutants, p.L388R and p.E140K, exhibited 1.1 and 11.3% of wt 21OH enzyme activity, respectively, in vitro. We could not detect any functional deficiency of the p.P45L variant in vitro; although prediction tools suggest p.P45L to be pathogenic. p.V211M displayed enzyme activity equivalent to the wt in vitro, which was supported by in silico analyses. We found good correlations between phenotype and the in vitro enzyme activities of the SW mutants, but not for the SV p.P45L variant. p.V211M might have a synergistic effect together with p.V281L, explaining a phenotype between SV and NC CAH.

Reverse circadian glucocorticoid treatment in prepubertal children with congenital adrenal hyperplasia

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Ilja Dubinski ◽  
Susanne Bechtold Dalla-Pozza ◽  
Martin Bidlingmaier ◽  
Nicole Reisch ◽  
Heinrich Schmidt
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Pubertal Development ◽  
Adrenal Crisis ◽  
Adrenal Hyperplasia ◽  
Glucocorticoid Treatment ◽  
Steroid Synthesis ◽  
Prepubertal Children ◽  
Salt Wasting ◽  
17 Hydroxyprogesterone

Abstract Objectives Children with salt-wasting congenital adrenal hyperplasia (CAH) have an impaired function of steroid synthesis pathways. They require therapy with glucocorticoid (GC) and mineralocorticoid hormones to avoid salt-wasting crisis and other complications. Most commonly, children receive hydrocortisone thrice daily with the highest dose in the morning, mimicking the regular physiology. However, reverse circadian treatment (RCT) had been suggested previously. In this study, we aimed to determine the efficacy of RCT in prepubertal children with CAH by comparing the salivary 17-hydroxyprogesterone (s17-OHP) levels individually. Methods In this retrospective study, we analyzed the records of children with classical CAH and RCT who were monitored by s17-OHP levels. The study included 23 patients. We identified nine prepubertal children with RCT schemes (three boys and six girls) and compared the s17-OHP levels in the morning, afternoon, and evening. The objective of this study was to demonstrate the non-effectiveness of RCT in terms of lowering the morning s17-OHP concentration. In addition, we compared s17-OHP day profiles in six patients on RCT and non-RCT therapy (intraindividually). Results Eight of nine children with RCT showed higher s17-OHP levels in the morning compared to the evening. In addition, none of the children showed a significant deviation of development. Three children were overweight. No adrenal crisis or pubertal development occurred. Comparison of RCT and non-RCT regimens showed no difference in 17-OHP profiles. Conclusions Our data do not support the use of RCT schemes for GC replacement in children with CAH due to lack of benefits and unknown long-term risks.

scholarly journals Case Report: Infant With Congenital Adrenal Hyperplasia and 47,XXY

2022 ◽  
Vol 12 ◽  
Author(s):  
Sophia Q. Song ◽  
Andrea Gropman ◽  
Robert W. Benjamin ◽  
Francie Mitchell ◽  
Michaela R. Brooks ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Genetic Disorders ◽  
Gene Mutations ◽  
Tall Stature ◽  
Clinical Report ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Autosomal Recessive Disorders ◽  
21 Hydroxylase Deficiency ◽  
Recessive Disorders

Congenital adrenal hyperplasia is a group of autosomal recessive disorders in which enzymes in the cortisol biosynthesis pathways are disrupted by gene mutations. The most common form of congenital adrenal hyperplasia, caused by 21-hydroxylase deficiency, is characterized by decreased cortisol and aldosterone synthesis and excessive androgen production. Adult height is often compromised in affected patients. Intellectual capability remains intact in patients with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency, based on previous studies. 47,XXY (KS) is a sex chromosomal aneuploidy that manifests with hypergonadotropic hypogonadism, tall stature, and variable intellectual and behavioral dysfunction. This clinical report describes an infant with 21-hydroxylase deficiency congenital adrenal hyperplasia and 47,XXY. The results of his neurodevelopmental, endocrine, neurological, and physical therapy evaluations during his first 22 months are included and were normal. This is the first published case investigating the neurodevelopmental profile of a patient with the combination of these two genetic disorders.

Congenital adrenal hyperplasia

2011 ◽  
pp. 865-878
Author(s):  
Nils Krone
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Regulatory Protein ◽  
Signs And Symptoms ◽  
Adrenal Hyperplasia ◽  
Steroidogenic Enzymes ◽  
Autosomal Recessive Disorders ◽  
Chain Cleavage ◽  
Adrenal Steroidogenesis ◽  
Steroidogenic Acute Regulatory ◽  
Recessive Disorders

Congenital adrenal hyperplasia (CAH) represents a group of autosomal recessive disorders of steroidogenesis caused by defects in steroidogenic enzymes involved in glucocorticoid synthesis or in enzymes providing cofactors to steroidogenic enzymes (1, 2). Congenital lipoid adrenal hyperplasia (CLAH) caused by steroidogenic acute regulatory protein (StAR) deficiency is distinct in origin and presentation from the conventional variants of CAH, with the unique feature of lipid accumulation subsequently leading to destruction of adrenal function. This chapter will also mention aldosterone synthase deficiency, which is the only defect in adrenal steroidogenesis causing deficient mineralocorticoid biosynthesis without affecting glucocorticoid biosynthesis. The disorder cannot strictly be considered a CAH variant as it does not result in increased ACTH drive and thus not in adrenal hyperplasia. Novel forms of CAH have emerged during recent years. These include P450 oxidoreductase deficiency (ORD), P450 side-chain cleavage (CYP11A1) deficiency, the nonclassic form of CLAH (StAR deficiency), and apparent cortisone reductase deficiency. All forms of congenital adrenal hyperplasia resemble a disease continuum spanning from mild nonclassic presentations to classic onset with severe signs and symptoms.

High aldosterone and cortisol levels in salt wasting congenital adrenal hyperplasia: a clinical conundrum

2017 ◽  
Vol 30 (12) ◽  
Author(s):  
Sirisha Kusuma Boddu ◽  
Sheeja Madhavan
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Cross Reactivity ◽  
Adrenal Hyperplasia ◽  
Salt Wasting ◽  
Adrenal Steroid ◽  
Wasting Syndrome ◽  
Serum Aldosterone ◽  
Diagnostic Confusion ◽  
Cortisol Levels ◽  
17 Hydroxyprogesterone

AbstractBackground:Salt wasting syndrome (hyponatremia, hyperkalemia, dehydration, metabolic acidosis) in early infancy could be caused by either mineralocorticoid deficiency as in congenital adrenal hyperplasia (CAH) and adrenal insufficiency or mineralocorticoid resistance as in pseudohypoaldosteronism (PHA). In salt wasting CAH, serum aldosterone and cortisol levels are expected to be low. Cross reactivity between high levels of adrenal steroid precursors and aldosterone has recently been reported resulting in elevated aldosterone levels in CAH, leading to difficulty in differentiating between CAH and PHA.Case presentation:We report four such cases of salt wasting CAH, where high aldosterone levels and high normal cortisol levels led to initial diagnostic confusion with PHA. Diagnosis of CAH was later established on the basis of significantly elevated adrenocorticotropic hormone (ACTH) stimulated 17-hydroxyprogesterone (17-OHP) values.Conclusions:By reporting these cases we draw attention to the possibility that high levels of adrenal steroid precursors can cross react with aldosterone and cortisol, and underscore the significance of ACTH stimulated 17-OHP values in differentiating CAH and PHA.

scholarly journals Late-diagnosed salt-wasting congenital adrenal hyperplasia in adult patient

2018 ◽  
Vol 64 (2) ◽  
pp. 105-110
Author(s):  
Liudmila Ya. Rozhinskaya ◽  
Natalia Yu. Kalinchenko ◽  
Zhanna E. Belaya ◽  
Tatiana S. Zenkova ◽  
Alexander S. Lutsenko ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Molecular Genetic ◽  
Gas Chromatography Mass Spectrometry ◽  
Adrenal Hyperplasia ◽  
Molecular Genetic Study ◽  
Hydroxylase Deficiency ◽  
Salt Wasting ◽  
Adrenal Cortical Adenoma ◽  
17 Hydroxyprogesterone ◽  
21 Hydroxylase Deficiency

We describe a unique case of diagnosing salt-wasting congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency in a 32-year-old male patient. Before establishing the diagnosis, the main patient complaint was infertility. In childhood, the patient suffered from developmental delay, often illness, overconsumption of salt, and often vomiting; he stopped growing at the age of 12 years. In the adolescent period, his physical condition improved. Later, the patient got married, but was infertile. Plasma steroid profiling by gas chromatography-mass spectrometry (GC-MS) revealed markedly increased levels of 17-hydroxyprogesterone and 21-deoxycortisol and a decreased cortisol level, which enabled the diagnosis of CAH and 21-hydroxylase deficiency. The diagnosis was confirmed by a molecular genetic study that detected a CYP21 gene mutation — l2 splice in the homo(hemi)zygotic state, which was characteristic of the salt-wasting form of CAH. Also, the patient had secondary adrenal cortical adenoma caused by prolonged ACTH hyperstimulation and secondary hypogonadism associated with excessive production of adrenal androgens, which led to elevated levels of estrogens inhibiting production of LH and FSH. Treatment of the patient with glucocorticoids and mineralocorticoids and then with androgens improved his clinical condition and hormonal parameters.

scholarly journals Analysis of the Screening Results for Congenital Adrenal Hyperplasia Involving 7.85 Million Newborns in China: A Systematic Review and Meta-Analysis

2021 ◽  
Vol 12 ◽  
Author(s):  
Zhuoguang Li ◽  
Lianjing Huang ◽  
Caiqi Du ◽  
Cai Zhang ◽  
Mini Zhang ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Data Extraction ◽  
Meta Analysis ◽  
Genetic Diseases ◽  
Recall Rate ◽  
Cochrane Library ◽  
Adrenal Hyperplasia ◽  
Salt Wasting ◽  
Significant Difference ◽  
17 Hydroxyprogesterone

BackgroundCongenital adrenal hyperplasia (CAH) is a group of congenital genetic diseases caused by defective steroidogenesis. Our study aims to systematically analyze the screening results for CAH in Chinese newborns.MethodsStudies were searched from PubMed, Web of Science, Cochrane library and some Chinese databases up to September, 2020. Meta-analysis was performed after quality assessment and data extraction.ResultsAfter a review of 2 694 articles, we included 41 studies enrolling 7 853 756 newborns. In our study, we found that the incidence of CAH in China was 0.43‱ [95% confidence intervals(CI), (0.39‱, 0.48‱)], or 1/23 024 [95%CI, (1/25 757,1/20 815)]. 27 studies were included for analysis of the screening positive rate, which gave a rate of 0.66% [95%CI, (0.54%, 0.78%)]. As for the recall rate of positive cases, 17 studies were included and showed that the recall rate reached 86.17% [95%CI, (82.70%, 89.64%)]. Among the CAH patients, the ratio of males to females was 1.92:1 (119:62), and the ratio of salt wasting (SW) to simple virilization (SV) type was 3.25:1 (104:32). The average 17-hydroxyprogesterone (17-OHP) value of CAH was 393.40 ± 291.85 nmol/L (Range 33-1 300 nmol/L); there was no significant difference between male and female patients (437.17 ± 297.27 nmol/L v.s. 322.25 ± 293.04 nmol/L, P=0.16), but a significant difference was found between SW and SV patients (483.29 ± 330.07 nmol/L v.s. 73.80 ± 7.83nmol/L, P=0.04).ConclusionWe systematically analyzed the current situation of neonatal CAH screening in China, which will deepen our understanding for future CAH screening and early diagnosis.

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