scholarly journals Simple Virilizing Congenital Adrenal Hyperplasia: A case Report of Sudanese 46, XY DSD male with G293D variant in CYP21A2

2019 ◽  
Vol 9 (1) ◽  
pp. 7-11 ◽  
Author(s):  
Mona Ellaithi ◽  
Idoia Martinez de LaPiscina ◽  
Ana Belen de La Hoz ◽  
Gustavo Perez de Nanclares ◽  
Marwah Abdelrahman Alasha ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Adrenal Hyperplasia ◽  
Sexual Development ◽  
Adrenal Hyperplasia ◽  
Disorders Of Sexual Development ◽  
Inherited Disorders ◽  
Salt Wasting ◽  
Simple Virilizing ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Congenital Adrenal Hyperplasia (CAH) is a family of inherited disorders that constitute the largest group of Disorders of Sexual Development (DSDs). The classical CAH has two types; the salt-wasting (SW-CAH) and the simple virilizing (SV-CAH). This study is a report of an SV-CAH regarding 46, XY DSD Sudanese male with early signs of puberty at the age of six years. We designed a customized panel that included 48 genes associated with Disorders of Sexual Development (DSDs) and using Next Generation Sequencing (NGS) technology, detected the pathogenic G293D alteration in the CYP21A2 gene. This variant has been reported in the salt-wasting (SW) form of 46, XX CAH.

scholarly journals High Prevalence of Reduced Fecundity in Men with Congenital Adrenal Hyperplasia

2009 ◽  
Vol 94 (5) ◽  
pp. 1665-1670 ◽  
Author(s):  
Nicole Reisch ◽  
Linda Flade ◽  
Michael Scherr ◽  
Marietta Rottenkolber ◽  
Francesco Pedrosa Gil ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Semen Quality ◽  
Semen Analysis ◽  
Hormonal Control ◽  
Inhibin B ◽  
The Other ◽  
Adrenal Hyperplasia ◽  
Salt Wasting ◽  
High Prevalence ◽  
Simple Virilizing

Abstract Context: Testicular adrenal rest tumors (TARTs) are regarded to contribute to the high prevalence of subfertility in males with congenital adrenal hyperplasia (CAH). Objectives: Our objectives were to evaluate reduced fecundity and its possible causes in well-controlled adult males with CAH, and to investigate diagnostic tools for improved treatment monitoring with respect to fertility outcomes. Design: In a cross-sectional study at the Department of Endocrinology at the University Hospital München, Germany, 22 adult male CAH patients (15 salt wasting and seven simple virilizing, age 19–48 yr) were clinically assessed according to their hormonal control. We performed testicular ultrasound (22 of 22), magnetic resonance imaging (18 of 22), and a semen analysis (19 of 22) in the participants. Results: All patients had a pathological semen analysis. TART prevalence was 10 of 22 (eight salt wasting, two simple virilizing). Poor therapy control was present in five patients, and all five had TARTs. Of the other 17 well-controlled patients with normal or suppressed adrenal androgens and 17-hydroxyprogesterone levels, five presented with TARTs. There was a significant correlation between sperm concentration and functional testicular volume (r = 0.70; P = 0.002), TART volume (r = −0.70; P = 0.036), as well as inhibin B levels (r = 0.75; P < 0.0001), respectively. In several men, hormonal control parameters suggested hypogonadism, with glucocorticoid overtreatment as a relevant factor for poor semen quality. Conclusions: Poor semen parameters are common in male CAH patients. TARTs, most likely reflecting undertreatment, as well as inhibin B are important indicators of fecundity. On the other hand, long-term glucocorticoid overtreatment also seems to contribute to low semen quality.

Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia

2019 ◽  
Vol 104 (7) ◽  
pp. 653-657 ◽  
Author(s):  
Annelieke A A van der Linde ◽  
Yvonne Schönbeck ◽  
Hetty J van der Kamp ◽  
Erica L T van den Akker ◽  
Mirjam E van Albada ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Neonatal Screening ◽  
High Specificity ◽  
Adrenal Hyperplasia ◽  
Salt Wasting ◽  
Period 2 ◽  
Classic Cah ◽  
Screening Sensitivity ◽  
Simple Virilizing ◽  
Screening Result

BackgroundIn 2002, a nationwide screening for congenital adrenal hyperplasia (CAH) was introduced in the Netherlands. The aim of our study is to evaluate the validity of the neonatal screening for CAH and to assess how many newborns with salt-wasting (SW) CAH have already been clinically diagnosed before the screening result was known.MethodsRetrospective, descriptive study. The following data of patients with positive screening results since implementation of the screening programme were collected (1 January 2002 up until 31 December 2013): gestational age, sex, diagnosis, clinical presentation and contribution of screening to the diagnosis.ResultsIn the evaluated period, 2 235 931 newborns were screened. 479 children had an abnormal screening result, 133 children were diagnosed with CAH (114 SW, 14 simple virilizing (SV)), five non-classic CAH. During this period, no patients with SW CAH were missed by neonatal screening (sensitivity was 100%). After exclusion of 17 cases with missing information on diagnosis, specificity was 99.98% and positive predictive value was 24.7%. Most false positives (30%) were attributable to prematurity. Of patients with SW CAH, 68% (71/104) patients were detected by neonatal screening and 33 (33/104) were clinically diagnosed. Of girls with SW CAH, 38% (14/37) were detected by neonatal screening and 62% (23/37) were clinically diagnosed.ConclusionThe Dutch neonatal screening has an excellent sensitivity and high specificity. Both boys and girls can benefit from neonatal screening.

CASE REPORT: A Girl with 45,X/46,XX Turner Syndrome and Salt Wasting Form of Congenital Adrenal Hyperplasia Due to Regulatory Changes

2013 ◽  
Vol 59 (01+02/2013) ◽  
Author(s):  
Bahareh Rabbani ◽  
Nejat Mahdieh ◽  
Fatemeh Sayarifar ◽  
Mohammad Taghi Haghi Ashtiani ◽  
Maria New ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Adrenal Hyperplasia ◽  
Turner Syndrome ◽  
Adrenal Hyperplasia ◽  
Salt Wasting ◽  
Regulatory Changes

The distribution of intrafamilial CYP21A2 mutant alleles and investigation of clinical features in Turkish children and their siblings in Southeastern Anatolia

2019 ◽  
Vol 32 (12) ◽  
pp. 1311-1320
Author(s):  
Murat Karaoglan
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Consanguineous Marriage ◽  
Adrenal Hyperplasia ◽  
Regional Variability ◽  
Hydroxylase Deficiency ◽  
Turkish Children ◽  
Salt Wasting ◽  
Allele Number ◽  
Simple Virilizing ◽  
21 Hydroxylase Deficiency

Abstract Background The genotype-phenotype relationship shows regional variability in 21-hydroxylase deficiency (21-OHD) caused by mutations in the CYP21A2 gene. This study focuses on the genotype-phenotype compatibility between patients and their siblings in a region where consanguineous marriage is common. Methods The most common mutations (I2G-P30L-I172N-V237E-M239K-V281L-Q318X-R356W-F306 + nt) were studied in 60 children with 21-OHD and 40 siblings (12 symptomatic and 28 asymptomatic; mean age 5.89 ± 4.63 and 8.34 ± 2.22 years, respectively). The allele number (patients; 93 siblings; 70 alleles) was counted for each case. Salt wasting (SW; n = 38), simple virilizing (SV; n = 11) and non-classical congenital adrenal hyperplasia (NCCAH; n = 11) types were compared with their genotypes classified into groups Null-AB-C-D-E based on enzyme impairment. Results Disease-causing mutations were identified in unrelated alleles: 80 out of 93 alleles (86%) in the patients: SW, 51/56 (91%); SV, 14/16 (87.4%) and NCCAH, 15/21 (71.4%). There were 43 out of 70 alleles (61.4%) in the siblings (asymptomatic, 25/50 [50%]; symptomatic, 18/20 [90%]). The most frequently detected mutations in the patients were: I2G (22%), Q318X-P30L-V281L (13% each). The distribution of the most common mutations by clinical types was: SW: I2G-Q318X (30.2%-19.6%), SV: I172NI2G (37.5%-18.7%), NCCAH: V281L-P30L (33.3%-28.5%). In patients and symptomatic siblings, the concordance percentages by genotype groups were: Null (100%-100%), A (85%-60%), B (100%-Not applicable), C (41.6%-50%). Eleven out of 28 asymptomatic siblings had disease-causing mutations (four, severe; one, moderate; six, mild). The distribution of genotypes by phenotypes were: SW: Null-A (88%), SV: B-A (50%-41.6%), NCCAH: C (100%). Conclusions This study showed that the most common alleles were IN2G-Q381X-R356W-P30L-V281L in the children with 21-OHD and asymptomatic siblings, and that the phenotype can be predicted from the genotype except for the P30L-V281L. This result suggests that the most common mutations in 21-OHD are similar to previous reports, but that the genotype-phenotype compatibility is good except for group C showing regional variability, and that genotyping of siblings discovered new patients.

Genetic Differences between the Salt-Wasting, Simple Virilizing, and Nonclassical Types of Congenital Adrenal Hyperplasia*

1985 ◽  
Vol 60 (4) ◽  
pp. 757-763 ◽  
Author(s):  
WULF HÖLLER ◽  
SIEGFRIED SCHOLZ ◽  
DIETRICH KNORR ◽  
FRANK BIDLINGMAIER ◽  
ELISABETH KELLER ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Genetic Differences ◽  
Adrenal Hyperplasia ◽  
Salt Wasting ◽  
Simple Virilizing

scholarly journals Nonvirilized Genitalia in 3 Female Newborns With the Salt-Wasting Congenital Adrenal Hyperplasia Phenotype

2020 ◽  
Vol 5 (1) ◽  
Author(s):  
Lauren Yauch ◽  
Allison Mayhew ◽  
Veronica Gomez-Lobo ◽  
Kim Shimy ◽  
Kyriakie Sarafoglou
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Cortisol Secretion ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Primary Adrenal Insufficiency ◽  
Salt Wasting ◽  
Newborn Screen ◽  
Classic Cah ◽  
Simple Virilizing ◽  
21 Hydroxylase Deficiency

Abstract Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, a form of primary adrenal insufficiency characterized by impaired cortisol secretion and elevated androgen production, is the leading cause of atypical genitalia in the female newborn. Females with classic CAH, either salt-wasting or simple-virilizing form, usually present at birth with atypical genitalia ranging from clitoromegaly to male-appearing genitalia, due to in utero to elevated androgens (androstenedione and testosterone). Females with mild nonclassic CAH usually present with typical genitalia. Proving the importance of always keeping an open mind for exceptions to the rule, we report on 3 female newborns who presented with the nonvirilized genitalia, salt-wasting CAH phenotype and genotype most consistent with simple-virilizing CAH. It is only through a positive newborn screen identifying the females with CAH that they were diagnosed before developing adrenal and/or salt-wasting crisis.

Prevention of ambiguous genitalia by prenatal treatment with dexamethasone in pregnancies at risk for congenital adrenal hyperplasia

2003 ◽  
Vol 75 (11-12) ◽  
pp. 2013-2022 ◽  
Author(s):  
M. I. New
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Chorionic Villus ◽  
Chorionic Villus Sampling ◽  
Prenatal Treatment ◽  
Adrenal Hyperplasia ◽  
Inherited Disorders ◽  
Hydroxylase Deficiency ◽  
Salt Wasting ◽  
Genital Ambiguity ◽  
21 Hydroxylase Deficiency

Congenital adrenal hyperplasia (CAH) refers to a family of monogenic inherited disorders of adrenal steroidogenesis most often caused by a deficiency of the 21-hydroxylase enzyme. In the classic forms of CAH (simple virilizing and salt-wasting), androgen excess causes external genital ambiguity in newborn females and progressive postnatal virilization in males and females. Prenatal treatment of CAH with dexamethasone has been successfully utilized for over a decade. This article reports on 595 pregnancies prenatally diagnosed using amniocentesis or chorionic villus sampling between 1978 and 2002 at the New York Presbyterian Hospital-Weill Medical College of Cornell University. No significant or enduring side effects were noted in the fetuses, indicating that dexamethasone treatment is safe. Prenatally treated newborns did not differ in weight from untreated, unaffected newborns. Based on our experience, prenatal diagnosis and treatment of 21-hydroxylase deficiency is effective in significantly reducing or eliminating virilization in the newborn female. Prevention of genital virilization in female newborns with classic CAH avoids the risk of sex misassignment and diminishes the need for corrective surgery and the resulting psychological impact that may extend into adulthood.

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