High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia
Publication date: Available online 21 June 2019Source: The Journal of Molecular DiagnosticsAuthor(s): Qizong Lao, Brittany Brookner, Deborah P. MerkeMany patients with congenital adrenal hyperplasia (CAH) due to 21 hydroxylase deficiency have CAH-X syndrome, a connective tissue dysplasia consistent with hypermobility type Ehlers Danlos syndrome due to a contiguous gene deletion involving the adjacent CYP21A2 and TNXB genes. CAH-X syndrome is caused by carrying CYP21A1P-TNXA/TNXB chimeric genes (CAH-X CH-1 and CH-2) on one or more alleles. Genetic analysis is cumbersome due to pseudogene interference. We developed a PCR-bas...
Source: The Journal of Molecular Diagnostics - June 22, 2019 Category: Pathology Source Type: research

An unusual epididymal localization of Testicular Adrenal Rest Tumor in an adolescent with congenital adrenal hyperplasia
(Source: Endocrine)
Source: Endocrine - June 21, 2019 Category: Endocrinology Source Type: research

High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia
Many patients with congenital adrenal hyperplasia (CAH) due to 21 hydroxylase deficiency have CAH-X syndrome, a connective tissue dysplasia consistent with hypermobility type Ehlers Danlos syndrome due to a contiguous gene deletion involving the adjacent CYP21A2 and TNXB genes. CAH-X syndrome is caused by carrying CYP21A1P-TNXA/TNXB chimeric genes (CAH-X CH-1 and CH-2) on one or more alleles. Genetic analysis is cumbersome due to pseudogene interference. We developed a PCR-based CAH-X high-throughput screening method to assess the copy numbers of TNXB exons 35 and 40 that is amenable to either quantitative PCR or droplet d...
Source: Journal of Molecular Diagnostics - June 20, 2019 Category: Pathology Authors: Qizong Lao, Brittany Brookner, Deborah P. Merke Tags: Regular Article Source Type: research

Polycystic Ovary Syndrome and NC-CAH: Distinct Characteristics and Common Findings. A Systematic Review
CONCLUSIONS: The screening tool to distinguish non-classic adrenal hyperplasia from PCOS is the measurement of 17-hydroxyprogesterone levels. The basal levels of 17-hydroxyprogesterone may overlap, but ACTH stimulation testing can distinguish the two entities. In this review these two common endocrine disorders are discussed in an effort to unveil their commonalities and to illuminate their shadowed distinctive characteristics. (Source: Frontiers in Endocrinology)
Source: Frontiers in Endocrinology - June 19, 2019 Category: Endocrinology Source Type: research

The impact of CYP21A2 (P30L/I172N) genotype on female fertility in one family
ConclusionsDespite significant improvements over the last years in achieving fertility in female patients with SV CAH, it is highly dependent upon the severity of virilization and the metabolic control. The role of P30L mutation in infertility and unsuccessfully assisted reproduction remains to be elucidated. (Source: European Journal of Medical Research)
Source: European Journal of Medical Research - June 19, 2019 Category: Research Source Type: research

Assessment of retinal thickness as a marker of brain masculinization in children with congenital adrenal hyperplasia: a pilot study
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print (Source: Journal of Pediatric Endocrinology and Metabolism)
Source: Journal of Pediatric Endocrinology and Metabolism - June 14, 2019 Category: Endocrinology Source Type: research

Advancement in steroid hormone analysis by LC–MS/MS in clinical routine diagnostics – A three year recap from serum cortisol to dried blood 17α-hydroxyprogesterone
Publication date: September 2019Source: The Journal of Steroid Biochemistry and Molecular Biology, Volume 192Author(s): Alexander Gaudl, Jürgen Kratzsch, Uta CeglarekAbstractSteroid analysis by LC–MS/MS in daily clinical routine diagnostics requires high-throughput conditions including fast chromatographic separation. Hereby, signal interferences may occur due to limited specificity in complex biologic matrices. During the last three years of routine steroid analysis in our laboratory and roughly 50,000 measurements, about 1% was affected by interferences, mainly serum cortisol (>90%) and dried blood 17&alpha...
Source: The Journal of Steroid Biochemistry and Molecular Biology - June 12, 2019 Category: Biochemistry Source Type: research

The xy female and swyer syndrome
We present the case of a patient with Swyer syndrome, and compare them with other cases of patients with a 46 XY karyotype, phenotypically female, such as in Congenital Adrenal Hyperplasia from deficiency of the 17 α hydroxylase/ 17 – 20 Lyase enzyme and in the Congenital Androgenic Insensitivity Syndrome. (Source: Urology Case Reports)
Source: Urology Case Reports - June 7, 2019 Category: Urology & Nephrology Source Type: research

53 - Reduction clitoroplasty by clitoral disassembly as an approach for the treatment of congenital adrenal hyperplasia
Publication date: May 2019Source: European Urology Supplements, Volume 18, Issue 2Author(s): B. Stoianovic, M. Bizic, M. Bencic, V. Vukadinovic, G. Korac, M. Djordjevic (Source: European Urology Supplements)
Source: European Urology Supplements - June 7, 2019 Category: Urology & Nephrology Source Type: research

Management of the Female With Non-classical Congenital Adrenal Hyperplasia (NCCAH): A Patient-Oriented Approach
Νon-classical congenital adrenal hyperplasia (NCCAH) is considered to be a common monogenic inherited disease, with an incidence range from 1:500 to 1:100 births worldwide. However, despite the high incidence, there is a low genotype-phenotype correlation, which explains why NCCAH diagnosis is usually delayed or even never carried out, since many patients remain asymptomatic or are misdiagnosed as suffering from other hyperandrogenic disorders. For affected adolescent and adult women, it is crucial to investigate any suspicion of NCCAH and determine a firm and accurate diagnosis. The Synacthen test is a prerequisite in ...
Source: Frontiers in Endocrinology - June 6, 2019 Category: Endocrinology Source Type: research

The High Prevalence of Testicular Adrenal Rest Tumors in Adult Men With Congenital Adrenal Hyperplasia Is Correlated With ACTH Levels
Introduction: The aim of this study was to determine the prevalence of testicular-adrenal rest tumors (T-ARTs) in patients with congenital adrenal hyperplasia (CAH), and to evaluate the related ultrasound (US) features, hormonal profiles, and semen parameters. Therefore, we attempted to understand the potential impact of adrenocorticotropic hormone (ACTH) on the persistence or disappearance of T-ART. Methods: We conducted a longitudinal cohort study including patients with CAH who were undergoing treatment with cortisone and, when indicated fludrocortisone replacement therapy. We performed andrological examinations, US of...
Source: Frontiers in Endocrinology - June 4, 2019 Category: Endocrinology Source Type: research

Advancement in steroid hormone analysis by LC-MS/MS in clinical routine diagnostics – a three year recap from serum cortisol to dried blood 17α-hydroxyprogesterone
Publication date: Available online 31 May 2019Source: The Journal of Steroid Biochemistry and Molecular BiologyAuthor(s): Alexander Gaudl, Jürgen Kratzsch, Uta CeglarekAbstractSteroid analysis by LC-MS/MS in daily clinical routine diagnostics requires high-throughput conditions including fast chromatographic separation. Hereby, signal interferences may occur due to limited specificity in complex biologic matrices. During the last three years of routine steroid analysis in our laboratory and roughly 50,000 measurements, about 1% was affected by interferences, mainly serum cortisol (>90%) and dried blood 17α-hy...
Source: The Journal of Steroid Biochemistry and Molecular Biology - May 31, 2019 Category: Biochemistry Source Type: research

Utilization of a shared decision-making tool in a female infant with congenital adrenal hyperplasia and genital ambiguity
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print (Source: Journal of Pediatric Endocrinology and Metabolism)
Source: Journal of Pediatric Endocrinology and Metabolism - May 31, 2019 Category: Endocrinology Source Type: research

Utilization of a shared decision-making tool in a female infant with congenital adrenal hyperplasia and genital ambiguity
Journal Name: Journal of Pediatric Endocrinology and Metabolism Volume: 32 Issue: 6 Pages: 643-646 (Source: Journal of Pediatric Endocrinology and Metabolism)
Source: Journal of Pediatric Endocrinology and Metabolism - May 30, 2019 Category: Endocrinology Source Type: research

Adrenocortical hyperplasia: a review of clinical presentation and imaging
AbstractAdrenal hyperplasia is non-malignant enlargement of the adrenal glands, which is often bilateral. It can be incidental or related to indolent disease process and may be related to benign or malignant etiologies causing biochemical alterations in the hypothalamic –pituitary–adrenal axis which controls steroidogenesis and in particular cortisol production. Clinical significance of the adrenal hyperplasia is variable ranging from asymptomatic finding to serious manifestations of Cushing syndrome. This is often associated with anatomical changes in the adre nal glands, which typically manifests as diffuse a...
Source: Abdominal Imaging - May 15, 2019 Category: Radiology Source Type: research

Glucocorticoid activity of adrenal steroid precursors in untreated patients with congenital adrenal hyperplasia.
We describe clinical features and biochemical characteristics of a unique population of severely affected untreated patients with congenital adrenal hyperplasia (CAH) from an Indonesian population, with proven cortisol deficiency but without clinical signs of cortisol deficiency. We evaluated the in vitro glucocorticoid activity of all relevant adrenal steroid precursors occurring in CAH patients. DESIGN: Cross sectional cohort study and translational research. INTERVENTION/MAIN OUTCOME MEASURES: Adrenal steroid precursor concentrations before and 60 minutes after ACTH administration of 24 untreated CAH patients ...
Source: The Journal of Clinical Endocrinology and Metabolism - May 15, 2019 Category: Endocrinology Authors: Engels M, Pijnenburg-Kleizen KJ, Utari A, Faradz SMH, Oude-Alink S, van Herwaarden AE, Span PN, Sweep FC, Claahsen-van der Grinten HL Tags: J Clin Endocrinol Metab Source Type: research

Testicular adrenal rest tumors in patients with congenital adrenal hyperplasia: 6 years of follow-up
Journal Name: Journal of Pediatric Endocrinology and Metabolism Volume: 32 Issue: 5 Pages: 519-526 (Source: Journal of Pediatric Endocrinology and Metabolism)
Source: Journal of Pediatric Endocrinology and Metabolism - May 10, 2019 Category: Endocrinology Source Type: research

Validation and preliminary results of the Parental Assessment of Children's External genitalia scale for Females (PACE-F) for girls with CAH
To validate a Parental Assessment of Children's External genitalia scale for Females (PACE-F) for girls with Congenital Adrenal Hyperplasia (CAH) by adapting the validated adult Female Genital Self-Image Scale. (Source: Urology)
Source: Urology - May 6, 2019 Category: Urology & Nephrology Authors: Konrad M. Szymanski, Benjamin Whittam, Patrick O. Monahan, Martin Kaefer, Heather Frady, Mark P. Cain, Richard C. Rink Source Type: research

High frequency of non-classical congenital adrenal hyperplasia form among children with persistently elevated levels of 17-hydroxyprogesterone after newborn screening
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print (Source: Journal of Pediatric Endocrinology and Metabolism)
Source: Journal of Pediatric Endocrinology and Metabolism - April 27, 2019 Category: Endocrinology Source Type: research

Optimizing Stature in Congenital Adrenal Hyperplasia: Challenges and Solutions
(Source: Indian Journal of Pediatrics)
Source: Indian Journal of Pediatrics - April 27, 2019 Category: Pediatrics Source Type: research

High frequency of non-classical congenital adrenal hyperplasia form among children with persistently elevated levels of 17-hydroxyprogesterone after newborn screening
Journal Name: Journal of Pediatric Endocrinology and Metabolism Volume: 32 Issue: 5 Pages: 499-504 (Source: Journal of Pediatric Endocrinology and Metabolism)
Source: Journal of Pediatric Endocrinology and Metabolism - April 27, 2019 Category: Endocrinology Source Type: research

Therapeutic challenges in a patient with the simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) due to the P30L/I172N genotype
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print (Source: Journal of Pediatric Endocrinology and Metabolism)
Source: Journal of Pediatric Endocrinology and Metabolism - April 26, 2019 Category: Endocrinology Source Type: research

Therapeutic challenges in a patient with the simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) due to the P30L/I172N genotype
Journal Name: Journal of Pediatric Endocrinology and Metabolism Volume: 32 Issue: 5 Pages: 543-547 (Source: Journal of Pediatric Endocrinology and Metabolism)
Source: Journal of Pediatric Endocrinology and Metabolism - April 26, 2019 Category: Endocrinology Source Type: research

Health-related quality of life in children and adolescents with non-classic congenital adrenal hyperplasia
Endocrine Practice, Ahead of Print. (Source: Endocrine Practice)
Source: Endocrine Practice - April 23, 2019 Category: Endocrinology Authors: Avivit Brener Anat Segev-Becker Naomi Weintrob Ronnie Stein Hagar Interator Anita Schachter-Davidov Galit Israeli Erella Elkon-Tamir Yael Lebenthal Ori Eyal Asaf Oren Source Type: research

The molecular basis and genotype-phenotype correlations of congenital adrenal hyperplasia (CAH) in Anatolian population.
In this study, we aimed to investigate CYP21A2, CYP11B1, HSD3B2 genes which are associated with 21-hydroxylase, 11-beta-hydroxylase and 3-beta-hydroxysteroid dehydrogenase enzyme deficiencies, respectively, in 365 individuals by using Sanger sequencing method. We emphasized the classification of variants according their disease causing potential, and evaluated variants' frequencies including newly discovered novel variants. As a result, 32 variants of CYP21A2 including 10 novel variants, 9 variants of CYP11B1 including 3 novel variants and 6 variants of HSD3B2 including 4 novel variants were identified. The conclusions of ...
Source: Molecular Biology Reports - April 20, 2019 Category: Molecular Biology Authors: Dundar A, Bayramov R, Onal MG, Akkus M, Dogan ME, Kenanoglu S, Cerrah Gunes M, Kazimli U, Ozbek MN, Ercan O, Yildirim R, Celmeli G, Parlak M, Dundar I, Hatipoglu N, Unluhizarci K, Akalin H, Ozkul Y, Saatci C, Dundar M Tags: Mol Biol Rep Source Type: research

Peripheral Precocious Puberty including congenital adrenal hyperplasia: causes, consequences, management and outcomes
Publication date: Available online 13 April 2019Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Nadine G. Haddad, Erica A. EugsterAbstractPeripheral precocious puberty results from peripheral production of sex steroids independent of activation of the hypothalamic-pituitary gonadal axis. It is much less common than central precocious puberty. Causes are variable and can be congenital or acquired. In this review, we will discuss the diagnosis and management of the most common etiologies including congenital adrenal hyperplasia, McCune Albright syndrome, familial male-limited precocious...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - April 14, 2019 Category: Endocrinology Source Type: research

Identification of novel and rare CYP21A2 variants in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
CONCLUSIONS: One novel and four rare variants of CYP21A2 gene corresponding to severe phenotypes were identified in our cohort. Two variants including p.R409C and p.R427H have wider ethnic distributions. Therefore, the sequence of CYP21A2 gene must be analyzed carefully in case rare or novel deleterious variants exist. Our findings improve the understanding of CYP21A2 mutational spectrum in 21-OHD patients and contribute to the precise diagnosis and prenatal counseling. PMID: 30995443 [PubMed - as supplied by publisher] (Source: Clinical Biochemistry)
Source: Clinical Biochemistry - April 14, 2019 Category: Biochemistry Authors: Xu J, Li P Tags: Clin Biochem Source Type: research

Aromatase Deficiency in Two Siblings with 46, XX KaryotypeRraised as Different Genders: A Novel Mutation (p.R115X) in CYP19A1 Gene
In conclusion, 46, XX virilised females should be examined in terms of aromatase deficiency once congenital adrenal hyperplasia has been excluded, even if no history of maternal virilisation during pregnancy is present. PMID: 30968679 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 11, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Cardiovascular Health in Children and Adolescents With Congenital Adrenal Hyperplasia Due to 21-Hydroxilase Deficiency
Nicola Improda1, Flavia Barbieri1, Gian Paolo Ciccarelli1, Donatella Capalbo2 and Mariacarolina Salerno1* 1Pediatric Section, Department of Translational Medical Sciences, Federico II University of Naples, Naples, Italy 2Department of Pediatrics, Federico II University of Naples, Naples, Italy Increasing evidence indicates that adults with Congenital Adrenal Hyperplasia (CAH) may have a cluster of cardiovascular (CV) risk factors. In addition, ongoing research has highlighted that children and adolescents with CAH are also prone to developing unfavorable metabolic changes, such as obesity, hypertension, insulin ...
Source: Frontiers in Endocrinology - April 11, 2019 Category: Endocrinology Source Type: research

Congenital adrenal hyperplasia in adults.
Authors: Lin-Su K, Nimkarn S, New MI Abstract Hyperandrogenism in congenital adrenal hyperplasia (CAH) results from overstimulation of adrenocorticotropic-driven androgen production in the adrenal cortex due to lack of cortisol feedback. The classical form is characterized by more-severe symptoms of hyperandrogenism, including virilization of the female genitalia. The milder nonclassical form presents with postnatal symptoms of hyperandrogenism. Presenting symptoms in adulthood may include acne, male-pattern alopecia, hirsutism, irregular menses/amenorrhea or infertility. The goal of therapy in CAH is to both corre...
Source: Expert Review of Endocrinology and Metabolism - April 4, 2019 Category: Endocrinology Tags: Expert Rev Endocrinol Metab Source Type: research

Nonclassical congenital adrenal hyperplasia carriers have a higher prevalence of polycystic ovarian syndrome than the general population
The prevalence of polycystic ovarian syndrome (PCOS) in the general population as diagnosed by the Rotterdam criteria ranges from 8-13%1. Patients with nonclassical congenital adrenal hyperplasia (NCCAH) often meet clinical criteria for polycystic ovarian syndrome (PCOS); however, it is not known if the same is true of women who are heterozygous for CYP21A2 gene mutations. (Source: Fertility and Sterility)
Source: Fertility and Sterility - April 1, 2019 Category: Reproduction Medicine Authors: K.S. Merriam, S.A. Neal, S.J. Morin, A.W. Tiegs, J. Landis, R.T. Scott, M.D. Werner Tags: Poster Presentation Source Type: research

Gender Identity Fluctuation in a Genetic Female with Late-Onset, Non-Classical Congenital Adrenal Hyperplasia.
PMID: 30911871 [PubMed - as supplied by publisher] (Source: Archives of Sexual Behavior)
Source: Archives of Sexual Behavior - March 25, 2019 Category: Psychiatry & Psychology Authors: Grassi S, Morelli V, Arosio M, Buoli M Tags: Arch Sex Behav Source Type: research

Gender dysphoria and XX congenital adrenal hyperplasia: how frequent is it? Is male-sex rearing a good idea?
The frequency of gender dysphoria (GD) among 46,XX congenital adrenal hyperplasia (CAH) patients is unknown. These data are needed to put into perspective the debate about the timing of reconstructive surgery and possible male-raising of the most severely virilized children. (Source: Journal of Pediatric Surgery)
Source: Journal of Pediatric Surgery - March 22, 2019 Category: Surgery Authors: Lisieux Eyer de Jesus, Eduardo Corr êa Costa, Samuel Dekermacher Tags: Review Article Source Type: research

< b > < i > CYP21A2 < /i > < /b > Gene Pathogenic Variants: A Multicenter Study on Genotype –Phenotype Correlation from a Portuguese Pediatric Cohort
Conclusion: Our cohort has one of the largest NC CAH pediatric populations described. We emphasize the high frequency of the p.(Val282Leu) variant and the very high genotype –phenotype correlation observed.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - March 20, 2019 Category: Endocrinology Source Type: research

Three cases of testicular adrenal rest tumors in congenital adrenal hyperplasia - a diagnostic and therapeutic challenge
A 23-year old man presented with massive enlargement of his testes. He had a known history of salt-wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) and was on glucocorticoid and mineralocorticoid replacement since initial diagnosis at birth with a current treatment regimen of prednisolone 7.5 mg and fludrocortisone 75  µg daily. However, compliance was poor as reflected by hormonal control parameters out of target range (Table 1). Ultrasound of the testes revealed the presence of massive bilateral tumors with mixed hypo- and hyperechogenic appearance. (Source: Urology)
Source: Urology - March 18, 2019 Category: Urology & Nephrology Authors: Christian Lottspeich, Ullrich M üller-Lisse, Lysann Seiler, Annette Hildegard Schmitt-Graeff, Martin Reincke, Nicole Reisch Tags: Grand rounds Source Type: research

Testicular adrenal rest tumors: current insights on prevalence, characteristics, origin and treatment.
Abstract This review provides the reader with current insights on testicular adrenal rest tumors (TARTs), a complication in male patients with congenital adrenal hyperplasia (CAH).In recent studies, an overall TART prevalence of 40% (range 14-89%) in classic CAH-patients is found. Reported differences are mainly caused by the method of detection, and the selected patient population. Biochemically, histologically, and molecularly TARTs exhibit particular adrenal characteristics and were therefore thought to originate from aberrant adrenal cells. More recently TART has been found to also exhibit testicular character...
Source: ENDOCR REV - March 18, 2019 Category: Endocrinology Authors: Engels M, Span PN, van Herwaarden AE, Sweep FCGJ, Stikkelbroeck NMML, Claahsen-van der Grinten HL Tags: Endocr Rev Source Type: research

Three Cases of Testicular Adrenal Rest Tumors in Congenital Adrenal Hyperplasia —A Diagnostic and Therapeutic Challenge
A 23-year-old man presented with massive enlargement of his testes. He had a known history of salt-wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) and was on glucocorticoid and mineralocorticoid replacement since initial diagnosis at birth with a current treatment regimen of prednisolone 7.5 mg and fludrocortisone 75 µg daily. However, compliance was poor as reflected by hormonal control parameters out of target range (Table 1). Ultrasound of the testes revealed the presence of massive bilateral tumors with mixed hypo- and hyperechogenic appearance. (Source: Urology)
Source: Urology - March 18, 2019 Category: Urology & Nephrology Authors: Christian Lottspeich, Ullrich M üller-Lisse, Lysann Seiler, Annette Hildegard Schmitt-Graeff, Martin Reincke, Nicole Reisch Tags: Grand Rounds Source Type: research

Combined gestational age- and birth weight-adjusted cutoffs for newborn screening of congenital adrenal hyperplasia.
CONCLUSIONS: The use of cutoff values adjusted for both GA and BW significantly reduces FP rates (0.03%), and increases overall PPV (16.5%). Based on our ten years of experience, we recommend the implementation of this novel, two parameter-adjusted approach for NBS of classical CAH, in NBS programs worldwide. PMID: 30865229 [PubMed - as supplied by publisher] (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - March 13, 2019 Category: Endocrinology Authors: Pode-Shakked N, Blau A, Pode-Shakked B, Tiosano D, Weintrob N, Eyal O, Zung A, Levy-Khademi F, Tenenbaum-Rakover Y, Zangen D, Gillis D, Pinhas-Hamiel O, Loewenthal N, de Vries L, Landau Z, Rachmiel M, Abu-Libdeh A, Eliakim A, Strich D, Koren I, German A, Tags: J Clin Endocrinol Metab Source Type: research

Two cases of male patients followed for a classical form of congenital adrenal hyperplasia (CAH), presenting an azoospermia: analysis and review of the literature
ConclusionCongenital hyperplasia of the adrenal glands is a rare pathology in the context of male infertility. A semen analysis could be performed after puberty and a semen preservation may be proposed. (Source: Basic and Clinical Andrology)
Source: Basic and Clinical Andrology - March 12, 2019 Category: Urology & Nephrology Source Type: research

A Novel Nonsense Mutation c.374C > G in CYP21A2 Gene of a Vietnamese Patient with Congenital Adrenal Hyperplasia.
In this study, we established an assay for the detection of unusual genetic in the CYP21A2 gene in the proband and his family. A novel nonsense mutation c.374C > G which caused a substitutions of Serine for a stop codon at codon 125 (p.S125*) within exon 3 was found in the proband. Parental genotype studies confirmed carrier state in the father, but the mother showed a wild allele by PCR and sequencing. This inspired us to find deletions using multiplex ligation-dependent probe amplification (MLPA) technique. The probands were found to have a large deletion in exons 1 and 3, while the mother only had deletion ...
Source: Advances in Experimental Medicine and Biology - March 7, 2019 Category: Research Tags: Adv Exp Med Biol Source Type: research

1. Body Image, Sexual Function, and Reproductive Characteristics in Adult Women with CAH Compared to Age, Race, and Marital Status Matched Controls
Classic congenital adrenal hyperplasia (CAH) results in elevated androgens in-utero, and varying levels of 46XX virilization. Management has focused on early genital reconstruction, although data regarding long-term outcomes is sparse and inconclusive. We aim to determine how sexual function, body image, and perception of health differ in patients with CAH compared to healthy controls, as well as evaluate contributing factors that may be associated with these differences. (Source: Journal of Pediatric and Adolescent Gynecology)
Source: Journal of Pediatric and Adolescent Gynecology - March 4, 2019 Category: OBGYN Authors: Maggie Dwiggins, Kylie Fowler, Veronica Gomez-Lobo, Padmasree Veeraraghavan, Brittany Brookner, Kathleen Bren, Deborah Merke Source Type: research

Typical characteristics of children with congenital adrenal hyperplasia due to 11 β-hydroxylase deficiency: a single-centre experience and review of the literature
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print (Source: Journal of Pediatric Endocrinology and Metabolism)
Source: Journal of Pediatric Endocrinology and Metabolism - February 28, 2019 Category: Endocrinology Source Type: research

A pilot study on newborn screening for congenital adrenal hyperplasia in Beijing
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print (Source: Journal of Pediatric Endocrinology and Metabolism)
Source: Journal of Pediatric Endocrinology and Metabolism - February 28, 2019 Category: Endocrinology Source Type: research

A pilot study on newborn screening for congenital adrenal hyperplasia in Beijing
Journal Name: Journal of Pediatric Endocrinology and Metabolism Volume: 32 Issue: 3 Pages: 253-258 (Source: Journal of Pediatric Endocrinology and Metabolism)
Source: Journal of Pediatric Endocrinology and Metabolism - February 28, 2019 Category: Endocrinology Source Type: research

Typical characteristics of children with congenital adrenal hyperplasia due to 11 β-hydroxylase deficiency: a single-centre experience and review of the literature
Journal Name: Journal of Pediatric Endocrinology and Metabolism Volume: 32 Issue: 3 Pages: 259-267 (Source: Journal of Pediatric Endocrinology and Metabolism)
Source: Journal of Pediatric Endocrinology and Metabolism - February 28, 2019 Category: Endocrinology Source Type: research

Comprehensive genotyping of Turkish women with hirsutism
Conclusion21OHD-NCAH prevalence was determined to be ~4%. Unexpectedly, high heterozygous mutation rates were observed in CYP11B1 gene and CYP21A2 promoter region. CYP11B1 and HSD3B2 deficiencies were not prevalent in Turkish women with hirsutism despite the existence of higher heterozygous mutation rate in CYP11B1. (Source: Journal of Endocrinological Investigation)
Source: Journal of Endocrinological Investigation - February 27, 2019 Category: Endocrinology Source Type: research

Review of Health Problems in Adult Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
Exp Clin Endocrinol Diabetes 2019; 127: 171-177 DOI: 10.1055/a-0820-2085The introduction of newborn screening programmes in most Western countries for classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) enables timely introduction of life-saving glucocorticoid replacement in affected babies. Early diagnosis and optimised pediatric care not only successfully led to survival but also allow that almost all patients reach adulthood. Cohort studies in adults, however, provided evidence for significant health problems and co-morbidities of adult patients such as life-threatening adrenal crises, cardiova...
Source: Experimental and Clinical Endocrinology and Diabetes - February 27, 2019 Category: Endocrinology Authors: Reisch, Nicole Tags: Review Source Type: research

Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal hyperplasia
ConclusionThe result will contribute in further understanding the genotype ‐phenotype relationship of CAH patients and to guide better treatment and management of the affected. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 27, 2019 Category: Genetics & Stem Cells Authors: Dung V. Chi, Thinh H. Tran, Duc H. Nguyen, Long H. Luong, Phuong T. Le, Minh H. Ta, Huong T. T. Ngo, Mai P. Nguyen, Tuan P. Le ‐Anh, Dat P. Nguyen, The‐Hung Bui, Van T. Ta, Van K. Tran Tags: ORIGINAL ARTICLE Source Type: research

Adrenal crises in children with adrenal insufficiency: epidemiology and risk factors
AbstractThe aim of the study was to assess the epidemiology and risk factors of adrenal crises (AC) in children with adrenal insufficiency (AI). Children diagnosed with AI between 1990 and 2017 at four Israeli pediatric endocrinology units were studied. Demographic and clinical data were retrieved retrospectively from their files. The study population consisted of 120 children (73 boys, 47 girls) and comprised 904 patient years. Median age at diagnosis was 0.3  years (0–17.5). Thirty-one AC events in 26 children occurred during the study period, accounting for a frequency of 3.4 crises/100 patient years. Fifty-t...
Source: European Journal of Pediatrics - February 26, 2019 Category: Pediatrics Source Type: research