scholarly journals Case Report: Late-Onset Congenital Adrenal Hyperplasia and Acute Covid-19 Infection in a Pregnant Woman: Multidisciplinary Management

2021 ◽  
Vol 11 ◽  
Author(s):  
Claudia Giavoli ◽  
Enrico Iurlaro ◽  
Valentina Morelli ◽  
Giulia Rodari ◽  
Andrea Ronchi ◽  
...  
Keyword(s):  
Pulmonary Embolism ◽  
Pregnant Woman ◽  
Congenital Adrenal Hyperplasia ◽  
Steroid Therapy ◽  
Acute Infection ◽  
Good Condition ◽  
Oral Steroid ◽  
Adrenal Hyperplasia ◽  
First Case ◽  
The Impact

BackgroundThe impact of the Covid-19 infection on patients with chronic endocrine disease is not fully known. We describe here the first case of a pregnant woman with Covid-19 acute infection and non-classical congenital adrenal hyperplasia (NCAH).Case descriptionA woman at 36 weeks of gestation was referred to our Maternity Hospital for premature rupture of membranes (PROM). Her medical history was positive for NCAH on chronic steroid replacement till the age of 17 years (cortisone acetate and dexamethasone, both in the morning). At admission, her naso-oro-pharyngeal swab resulted positive for SARS-CoV-2. Due to hyperpyrexia and late preterm PROM, cesarean section was planned, and she was started on a 100 mg-bolus of hydrocortisone, followed by continuous infusion of 200 mg/24 h. A female neonate in good clinical condition and with a negative nasopharyngeal Covid-19 swab was delivered. On second postpartum day, the mother was in good condition and was switched to oral steroid therapy. On third postpartum day she worsened, with radiological signs of acute pulmonary embolism. Oro-tracheal intubation and mechanical ventilation were started, and she was switched back to intravenous steroid therapy. On April 30, pulmonary embolism was resolved, and on May 13th she was discharged in good condition.ConclusionsWe report the first case of Covid-19 acute infection that occurred in late-pregnancy in a woman with NCAH on chronic steroid replacement. The management of the patient in a reference center with early involvement of a multidisciplinary team granted prompt care and adequate protection for all the involved sanitary operators.

scholarly journals Polymyositis-Dermatomyositis and Interstitial Lung Disease in Pregnant Woman Successfully Treated with Cyclosporine and Tapered Steroid Therapy

2019 ◽  
Vol 2019 ◽  
pp. 1-4 ◽  
Author(s):  
Saito Mayu ◽  
Sakiko Isojima ◽  
Yoko Miura ◽  
Shinichiro Nishimi ◽  
Mika Hatano ◽  
...  
Keyword(s):  
Pregnant Woman ◽  
Interstitial Lung Disease ◽  
Disease Activity ◽  
Lung Disease ◽  
Immunosuppressive Therapy ◽  
Steroid Therapy ◽  
Preterm Births ◽  
Successful Outcome ◽  
First Case ◽  
Immunosuppressant Regimen

Polymyositis-dermatomyositis is extremely rare during pregnancy, and immunosuppressive therapy should be administered after carefully considering the effects on both the mother and fetus. Several reports have associated the disease activity with fetal prognosis, higher rates of eclampsia, preterm births, and fetal deaths. We report our experience with a patient who was diagnosed with polymyositis-dermatomyositis complicated by interstitial lung disease during pregnancy and was treated with a combination-immunosuppressant regimen. To the best of our knowledge, this is the first case wherein cyclosporine was used concomitantly with a steroid for the treatment of polymyositis diagnosed during pregnancy, with successful outcome of childbirth without any complications.

scholarly journals Impact of transition on quality of life in patients with congenital adrenal hyperplasia diagnosed during childhood

2017 ◽  
Vol 6 (7) ◽  
pp. 422-429 ◽  
Author(s):  
Anne Bachelot ◽  
Magaly Vialon ◽  
Amandine Baptiste ◽  
Isabelle Tejedor ◽  
Caroline Elie ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Congenital Adrenal Hyperplasia ◽  
Psychological Health ◽  
Adult Patients ◽  
Adrenal Hyperplasia ◽  
Adult Care ◽  
Related Quality ◽  
The Impact

Background Health-related quality of life (QoL) in adult patients with congenital adrenal hyperplasia (CAH) has been variously reported. However, there is no study evaluating the impact of transition on quality of life. Methods Adult patients with classic or non-classic CAH diagnosed during childhood CAH, born between 1970 and 1990, were recruited from the registers of Pediatric departments belonging to the French reference center for endocrine rare disease. Primary end point was the QoL (WHOQOL-BREF). Results Seventy-three patients were included in the study, among them 59/73 were transferred to adult endocrinologist by their pediatricians for transition. WHOQOL-BREF scores were similar between patients with or without transition to specialist adult services, except for environment dimension score, which was slightly higher in CAH patients without transition. However, CAH patients with a regular follow-up had a better physical health, psychological health and environment score and item global QoL than the group without regular follow-up after transition. Conclusion Regular medical follow-up in adulthood is associated with the transition between pediatric and adult care and is associated with better QoL in adults with CAH.

First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy

2007 ◽  
Vol 40 (18) ◽  
pp. 1435-1436
Author(s):  
Paola Concolino ◽  
Salvatore Corsello ◽  
Cinzia Carrozza ◽  
Angelo Minucci ◽  
Concetta Santonocito ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
South Italy ◽  
First Case

scholarly journals The Burden of Illness of Congenital Adrenal Hyperplasia (CAH) in Adults: Results: of a Structured Literature Review

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A96-A97
Author(s):  
Matthew Stephen Woods ◽  
Helen Coope ◽  
Kamran Maskin ◽  
Lotta Elisabet Parviainen ◽  
John Porter ◽  
...  
Keyword(s):  
Literature Review ◽  
Congenital Adrenal Hyperplasia ◽  
Economic Burden ◽  
Burden Of Illness ◽  
Treatment Options ◽  
Adult Patients ◽  
Cochrane Library ◽  
Adrenal Crisis ◽  
Adrenal Hyperplasia ◽  
The Impact

Abstract Objectives: Congenital adrenal hyperplasia (CAH) is a group of rare autosomal-recessive disorders that arise from genetic deficiencies in key enzymes involved in cortisol synthesis. The burden of CAH has never been comprehensively reviewed; this literature review was conducted to summarise the existing burden of illness evidence available for these patients. Methods: A structured, comprehensive literature review was conducted to identify articles describing the burden and treatment landscape of CAH. Literature databases (MEDLINE, Embase, the Cochrane Library and EconLit), websites and conference proceedings were searched. Searches were performed in 2016 and updated in June 2020; eligible articles presented evidence for patients with CAH or paediatric patients with adrenal insufficiency (AI), for ≥1 topic of interest (epidemiology; natural history; clinical characteristics; humanistic, caregiver and economic burden; treatment options; or clinical guidelines). The evidence presented here focusses on the humanistic and economic burden of CAH in adults. Results: A total of 3,711 citations were identified and 336 were included; 84 references reported humanistic or economic burden data relevant to adult patients with CAH. 51 publications were identified reporting patient symptoms, comorbidities and cardiometabolic risk factors; 38 reporting on the impact of CAH on health-related quality of life (HRQL); 5 reporting patient views and 2 reporting economic burden associated with CAH. Compared to the general population, adult patients with CAH were found to be significantly shorter, have poorer bone health, increased levels of obesity, impaired male and female fertility, higher blood pressure and cholesterol levels, have more psychiatric and neurological disorders and have poorer cognitive performance. Adult patients with CAH were also found to have greater insulin resistance and higher levels of type 2 diabetes (T2D). CAH patients are also at risk of adrenal crisis, which contributes to excess mortality. The reported HRQL in adults with CAH varies, with increased impairment observed in more severe forms of CAH, and challenges due to living with a chronic disease impacting HRQL varying according to sex. “Sick day rules” where patients need to double or triple treatment doses, have a significant impact on patients’ HRQL and also have an impact on patients’ resource use, with a UK study reporting that CAH patients will implement these rules 171 times over their lifetime, and be hospitalised for adrenal crises on 11 occasions. CAH was also found to have a significant economic impact, with significantly higher annual healthcare costs compared to matched controls (p=0.007 for patients aged 18–40 years; p<0.001 for patients aged ≥40 years). Conclusions: This comprehensive review highlights that CAH in adults is associated with a significant humanistic and economic burden.

scholarly journals Meta analysis of variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2.

2021 ◽  
Author(s):  
Mayara Jorgens Prado ◽  
Rodrigo Ligabue-Braun ◽  
Arnaldo Zaha ◽  
Maria Lucia Rosa Rossetti ◽  
Amit V Pandey
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
In Silico ◽  
Meta Analysis ◽  
Genetic Disorders ◽  
In Silico Prediction ◽  
Adrenal Hyperplasia ◽  
Single Nucleotide Variants ◽  
Mild Phenotype ◽  
The Impact

Context: CYP21A2 deficiency represents 95% of congenital adrenal hyperplasia cases (CAH), a group of genetic disorders that affect steroid biosynthesis. The genetic and functional analysis provides critical tools to elucidate complex CAH cases. One of the most accessible tools to infer the pathogenicity of new variants is in silico prediction. Objective: Analyze the performance of in silico prediction tools to categorize missense single nucleotide variants (SNVs) of the CYP21A2. Methods: SNVs of the CYP21A2 characterized in vitro by functional assays were selected to assess the performance of online single and meta predictors. SNVs were tested separately or in combination with the related phenotype (severe or mild CAH form). In total, 103 SNVs of the CYP21A2 (90 pathogenic and 13 neutral) were used to test the performance of 13 single-predictors and four meta-predictors. Results: SNVs associated with the severe phenotypes were well categorized by all tools, with an accuracy between 0.69 (PredictSNP2) and 0.97 (CADD), and Matthews' correlation coefficient (MCC) between 0.49 (PoredicSNP2) and 0.90 (CADD). However, SNVs related to the mild phenotype had more variation, with the accuracy between 0.47 (S3Ds&GO and MAPP) and 0.88 (CADD), and MCC between 0.18 (MAPP) and 0.71 (CADD). Conclusion: From our analysis, we identified four predictors of CYP21A2 pathogenicity with good performance. These results can be used for future analysis to infer the impact of uncharacterized SNVs' in CYP21A2.

scholarly journals The Impact of Adherence and Therapy Regimens on Quality of Life in Patients with Congenital Adrenal Hyperplasia

2022 ◽  
Author(s):  
Kerstin Ekbom ◽  
Anna Strandqvist ◽  
Svetlana Lajic ◽  
Angelica Hirschberg ◽  
Henrik Falhammar ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
The Impact

WOMEN WITH NONCLASSIC CONGENITAL ADRENAL HYPERPLASIA HAVE GENDER, SEXUALITY, AND QUALITY-OF-LIFE FEATURES SIMILAR TO THOSE OF NONAFFECTED WOMEN

2020 ◽  
Vol 26 (5) ◽  
pp. 535-542 ◽  
Author(s):  
Anat Segev-Becker ◽  
Roi Jacobson ◽  
Ronnie Stein ◽  
Ori Eyal ◽  
Asaf Oren ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Sexual Orientation ◽  
Gender Identity ◽  
Congenital Adrenal Hyperplasia ◽  
World Health ◽  
Study Group ◽  
Adrenal Hyperplasia ◽  
Quality Of Life Questionnaires ◽  
The Impact

Objective: Females with the severe classic forms of congenital adrenal hyperplasia reportedly have a higher frequency of atypical gender identity, nonheterosexual sexual relationships, and cross-gender role behavior. Comparable data and quality-of-life measures among those with the milder, more prevalent form, nonclassic congenital adrenal hyperplasia, are scarce. We aimed to assess health-related quality of life, gender identity, role, and sexual orientation in women with nonclassic congenital adrenal hyperplasia via a prospective, questionnaire-based, case-control study. Methods: Thirty-eight women with nonclassic congenital adrenal hyperplasia (median age 34 years; range, 18 to 44 years) and 62 age-matched female controls were recruited. Outcome measures included the Multi-Gender Identity, Sexuality, and World Health Organization (WHO) quality-of-life questionnaires. Results: Sociodemographic parameters (marital status, number of children, and educational level) were similar for both groups, as were most measures of the Multi-Gender Identity, Sexuality, and WHO quality-of-life questionnaires. However, “sometimes-feeling-as-a-man and sometimes-feeling-as-a-woman” were more frequently reported in the study group compared to the controls (7/38 [18.4%] vs. 3/62 [4.8%], respectively; P = .02). Furthermore, more nonclassic congenital adrenal hyperplasia women reported first falling in love with a woman (4/37 [10.8%] vs. 0/58 [0%]; P = .02). Conclusion: Our findings suggest possible subtle differences in gender identity and sexual orientation between adult nonclassic congenital adrenal hyperplasia females and controls. Quality of life was not impaired in individuals within the study group. The impact of exposure to mildly elevated androgen levels during childhood and adolescence on the female brain warrants more in-depth assessment in further studies. Abbreviations: CAH = congenital adrenal hyperplasia; Multi-GIQ = Multi-Gender Identity Questionnaire; NCCAH = nonclassic congenital adrenal hyperplasia; QoL = quality of life

Semen quality and testicular adrenal rest tumor development in 46,XY congenital adrenal hyperplasia - the importance of optimal hormonal replacement

2021 ◽  
Author(s):  
Julia Rohayem ◽  
Lena Maria Bäumer ◽  
Michael Zitzmann ◽  
Susanne Fricke-Otto ◽  
Klaus Mohnike ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Semen Quality ◽  
Hormonal Control ◽  
Adrenal Hyperplasia ◽  
Therapeutic Control ◽  
Hydroxy Progesterone ◽  
Adrenal Rest ◽  
The Impact ◽  
Testicular Adrenal Rest

Objective: To study the impact of the quality of therapeutic control on fertility and on the prevalence of testicular adrenal rest tumors (TARTs) in young males with congenital adrenal hyperplasia (CAH). Design: Combined cross-sectional and retrospective clinical study. Methods: Twenty-nine patients and age-matched controls underwent clinical investigation, including semen analysis, testicular and adrenal ultrasound imaging, and serum and hair steroid analysis. The quality of therapeutic control was categorized as “poor”, “moderate” or “medium”. Evaluation of current control was based on concentrations of 17-hydroxy-progesterone and androstenedione in serum and 3 cm hair; previous control was categorized based on serum 17-hydroxy-progesterone concentrations during childhood and puberty, anthropometric and puberty data, bone age data and adrenal sizes. Results: Semen quality was similar in males with CAH and controls (p = 0.066), however patients with “poor” past control and large TARTs, or with “poor” current CAH control, had low sperm counts. Follicle-stimulating hormone was decreased, if current CAH control was “poor” (1.8 ± 0.9 U/L; “good”: 3.9 ± 2.2 U/L); p = 0.015); luteinizing hormone was decreased if it was “poor” (1.8 ± 0.9 U/L; p = 0.041) or “moderate” (1.9 ± 0.6 U/L; “good”: 3.0 ± 1.3 U/L; p = 0.025). None of the males with “good” past CAH control, 50% of those with “moderate” past control and 80% with “poor” past control had bilateral TARTs. The prevalence of TARTs in males with severe (class null or A) CYP21A2 mutations was 53%, and 25% and 0% in those with milder class B and C mutations, respectively. Conclusions: TART development is favoured by inadequate long-term hormonal control in CAH. Reduced semen quality may be associated with large TARTs. Gonadotropin suppression by adrenal androgen excess during the latest spermatogenic cycle may contribute to impairment of spermatogenesis.

Sign in / Sign up

Export Citation Format

Share Document