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"Congenital Adrenal Hyperplasia"

Eungu Kang, Ja Hyang Cho, Jin-Ho Choi, Han-Wook Yoo
PURPOSE: This study was performed to investigate the etiology, clinical features, and outcomes of patients with gonadotropin-independent precocious puberty (GIPP). METHODS: The study included 16 patients (14 female and 2 male patients) who manifested secondary sexual characteristics, elevated sex hormones, or adrenal androgens with prepubertal luteinizing hormone levels after gonadotropin releasing hormone stimulation diagnosed between May 1994 and December 2015...
September 2016: Annals of Pediatric Endocrinology & Metabolism
Ruqayah G Y Al-Obaidi, Bassam M S Al-Musawi, Munib Ahmed K Al-Zubaidi, Christian Oberkanins, Stefan Németh, Yusra G Y Al-Obaidi
Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing CYP21A2 gene mutations was so far not reported in Iraq. This work aims to analyze the spectrum and frequency of CYP21A2 mutations among Iraqi CAH patients. Sixty-two children were recruited from the Pediatric Endocrine Consultation Clinic, Children Welfare Teaching Hospital, Baghdad, Iraq, from September 2014 till June 2015. Their ages ranged between one day and 15 years...
2016: Enzyme Research
Yasmeen Ganie, Colleen Aldous, Yusentha Balakrishna, Rinus Wiersma
BACKGROUND: The objective of the study was to describe the prevalence, clinical characteristics and aetiological diagnosis in children with disorders of sex development (DSDs) presenting to a tertiary referral centre. METHODS: This is a retrospective review of all cases of DSD referred to the Paediatric Endocrine Unit in Inkosi Albert Luthuli Central Hospital (IALCH) from January 1995 to December 2014. RESULTS: A total of 416 children (15...
October 18, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Suzanne Drury, Sarah Mason, Fiona McKay, Kitty Lo, Christopher Boustred, Lucy Jenkins, Lyn S Chitty
Our UK National Health Service regional genetics laboratory offers NIPD for autosomal dominant and de novo conditions (achondroplasia, thanataphoric dysplasia, Apert syndrome), paternal mutation exclusion for cystic fibrosis and a range of bespoke tests. NIPD avoids the risks associated with invasive testing, making prenatal diagnosis more accessible to families at high genetic risk. However, the challenge remains in offering definitive diagnosis for autosomal recessive diseases, which is complicated by the predominance of the maternal mutant allele in the cell-free DNA sample and thus requires a variety of different approaches...
2016: Advances in Experimental Medicine and Biology
J Lindert, O Hiort, L Tüshaus, K Tafazzoli-Lari, L Wünsch
A variable spectrum of urogenital malformations exists in girls with congenital adrenal hyperplasia (CAH). The vagina may enter the urethra at a variable level, and relations to the sphincter complex vary accordingly. Furthermore, an enlarged clitoris and variations in the bladder sphincter anatomy can be found. Endoscopy, genitography or magnetic resonance imaging (MRI) are commonly used for the assessment of these anomalies, and to provide information for counselling and treatment. When surgery is planned, introitoplasty cosmetical reduction of the clitoris and labioplasty are discussed with the families; introitoplasty is the most demanding aspect...
September 10, 2016: Journal of Pediatric Urology
Rachel Bello, Yael Lebenthal, Liora Lazar, Shlomit Shalitin, Ariel Tenenbaum, Moshe Phillip, Liat de Vries
AIM: This study explored whether using the suggested diagnostic serum basal level of 17-hydroxyprogesterone (6.0 nmol/l) would lead to underdiagnosis of non-classical congenital adrenal hyperplasia. METHODS: We retrospectively studied 123 patients with non-classical congenital adrenal hyperplasia, defined as an adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone level of more than 45nmol/l. Of these 13 had basal 17-hydroxyprogesterone levels of less than 6...
October 15, 2016: Acta Paediatrica
Veronica Gomez-Lobo, Anne-Marie Amies Oelschlager
Disorders (differences) of sexual development encompass a variety of conditions with atypical development of chromosomal, gonadal, or anatomic sex. Three of the most common differences of sex development conditions include congenital adrenal hyperplasia, complete androgen insensitivity, and Turner syndrome. Obstetrician-gynecologists who care for affected individuals in their practice must be familiar with the genetic, endocrine, and anatomic considerations of the most common conditions to provide optimal care...
October 6, 2016: Obstetrics and Gynecology
Beatriz D S F Bonamichi, Stella L M Santiago, Débora R Bertola, Chong A Kim, Nivaldo Alonso, Berenice B Mendonca, Tania A S S Bachega, Larissa G Gomes
P450 oxidoreductase deficiency (PORD) is a variant of congenital adrenal hyperplasia that is caused by POR gene mutations. The POR gene encodes a flavor protein that transfers electrons from nicotinamide adenine dinucleotide phosphate (NADPH) to all microsomal cytochrome P450 type II (including 21-hydroxylase, 17α-hydroxylase 17,20 lyase and aromatase), which is fundamental for their enzymatic activity. POR mutations cause variable impairments in steroidogenic enzyme activities that result in wide phenotypic variability ranging from 46,XX or 46,XY disorders of sexual differentiation, glucocorticoid deficiency, with or without skeletal malformations similar to Antley-Bixler syndrome to asymptomatic newborns diagnosed during neonatal screening test...
October 10, 2016: Archives of Endocrinology and Metabolism
Jana Vrbíková
Congenital adrenal hyperplasia is a life-long disease requiring an integrated therapy. It may negatively influence the quality of life. In childhood, the main problems of the care of these patients involve sex determination and ensuring optimum growth and puberty. The therapeutic goals for adults are the prevention of Addisonian crisis and ensuring the best possible quality of life, including fertility.Key words: androgens - cardiovascular risk - congenital adrenal hyperplasia - bone density - testicular rest tumors...
2016: Vnitr̆ní Lékar̆ství
Ronak Ajmera, Arun Narayan, Shrikanth N, Divya Prabhu
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Z Grubic, M Maskalan, K Stingl Jankovic, S Zvecic, K Dumic Kubat, N Krnic, R Zunec, J Ille, V Kusec, M Dumic
The CYP21A2 mutations that are in linkage disequilibrium with particular HLA-A, -B, -DRB1 alleles/haplotypes, cause deficiency of the 21-hydroxylase enzyme (21-OHD) and account for the majority of congenital adrenal hyperplasia (CAH) cases. The aim of this study was to investigate those associations with the p.V282L mutation linked to the non-classical (NC) form of CAH among Croatians. The study included parents of patients with the NC form of CAH, positive for the p.V282L mutation (N = 55) and cadaveric donor samples (N = 231)...
November 2016: HLA
Todd D Nebesio, Jamie L Renbarger, Zeina M Nabhan, Sydney E Ross, James E Slaven, Lang Li, Emily C Walvoord, Erica A Eugster
BACKGROUND: Little is known about the comparative effects of different glucocorticoids on the adrenal and growth hormone (GH) axes in children with congenital adrenal hyperplasia (CAH). We sought to compare the effects of hydrocortisone (HC), prednisone (PDN), and dexamethasone (DEX) in children with classic CAH and to investigate a potential role of pharmacogenetics. METHODS: Subjects were randomly assigned to three sequential 6-week courses of HC, PDN, and DEX, each followed by evaluation of adrenal hormones, IGF-1, GH, and body mass index (BMI)...
2016: International Journal of Pediatric Endocrinology
Aikaterini A Nella, Ashwini Mallappa, Ashley F Perritt, Verena Gounden, Parag Kumar, Ninet Sinaii, Lori-Ann Daley, Alexander Ling, Chia-Ying Liu, Steven J Soldin, Deborah P Merke
CONTEXT: Classic congenital adrenal hyperplasia (CAH) management remains challenging, as supraphysiologic glucocorticoid doses are often needed to optimally suppress the ACTH-driven adrenal androgen overproduction. OBJECTIVE: To approximate physiologic cortisol secretion via continuous subcutaneous hydrocortisone infusion (CSHI) and evaluate the safety and efficacy of CSHI in difficult-to-treat CAH patients. DESIGN: Eight adult patients with classic CAH participated in a single-center open label phase I-II study comparing CSHI to conventional oral glucocorticoid treatment...
September 28, 2016: Journal of Clinical Endocrinology and Metabolism
Heino F L Meyer-Bahlburg, Jazmin A Reyes-Portillo, Jananne Khuri, Anke A Ehrhardt, Maria I New
Stigma defined as "undesired differentness" (Goffman, 1963) and subtyped as "experienced" or "enacted," "anticipated," and "internalized" has been documented for patients with diverse chronic diseases. However, no systematic data exist on the association of stigma with somatic intersexuality. The current report concerns women with classical congenital adrenal hyperplasia (CAH), the most prevalent intersex syndrome, and provides descriptive data on CAH-related stigma as experienced in the general social environment (excluding medical settings and romantic/sexual partners) during childhood, adolescence, and adulthood...
September 27, 2016: Archives of Sexual Behavior
A Monica Agoston, Maria Teresa Gonzalez-Bolanos, Margaret Semrud-Clikeman, Nancy Vanderburg, Kyriakie Sarafoglou
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a disorder characterized by impaired cortisol synthesis leading to excessive production of adrenal androgens. Prenatal and postnatal exposure to excess androgens may increase neural vulnerability to insult and affect cognitive functions, particularly dopamine-dependent neural circuits responsible for executive functioning (EF). Our study aimed to investigate relationship between more pronounced androgen exposure and EF-related behaviors in children with CAH, as well as sex differences in these associations...
September 15, 2016: Journal of Investigative Medicine: the Official Publication of the American Federation for Clinical Research
Ursina Probst-Scheidegger, Sameer S Udhane, Dagmar l'Allemand, Christa E Flück, Núria Camats
Classic 3β-hydroxysteroid dehydrogenase type 2 (3β-HSD II) deficiency causes congenital adrenal hyperplasia with glucocorticoid, mineralocorticoid, and sex steroid deficiency. We present a female patient with congenital adrenal hyperplasia detected in newborn screening due to elevated 17OH-progesterone. Female external genitalia and non-measurable androgen levels elicited the suspicion of a defect early in the steroid cascade. Two loss-of-function HSD3B2 mutations (1 novel) were detected and confirmed in silico...
2016: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
K P Wolffenbuttel, V S Menon, G M Grimsby, M J Ten Kate-Booij, L A Baker
INTRODUCTION: The surgical management of girls with masculinized genitalia is gradually changing towards a more conservative approach. Reports on loss of clitoral sensitivity and related impairment of sexual function in women after feminizing genital surgery in childhood have been pivotal in this evolution. An exposed clitoral glans is occasionally seen at follow-up, and while patients may complain of aesthetics, no clitoral discomfort secondary to glans exposure has been reported. A technique has been developed to reconstruct the clitoral hood and the present study reports the preliminary results...
August 21, 2016: Journal of Pediatric Urology
Paul M Stewart, Beverly Mk Biller, Claudio Marelli, Candace Gunnarsson, Michael P Ryan, Gudmundur Johannsson
CONTEXT: Patients with adrenal insufficiency (AI) (primary [PAI], secondary to pituitary disease [PIT] and congenital adrenal hyperplasia [CAH]) have reduced life expectancy; however, the underlying explanation remains unknown. OBJECTIVE: To evaluate characteristics, comorbidities and hospitalizations in AI patients. DESIGN: Retrospective Observational Setting and Population: Using a US-based national payer database comprising >108 million members, strict inclusion criteria including diagnostic codes and steroid prescription records were used to identify 10,383 adults with AI; 1,014 with PAI, 8,818 with PIT and 551 with CAH...
September 13, 2016: Journal of Clinical Endocrinology and Metabolism
Shaheena Parween, Florence Roucher Boulez, Christa E Flück, Anne Lienhardt-Roussie, Delphine Mallet, Yves Morel, Amit V Pandey
CONTEXT: P450 oxidoreductase (POR) is required for the activities of steroid metabolizing cytochrome P450 enzymes in the endoplasmic reticulum. P450 oxidoreductase deficiency (PORD) is a form of congenital adrenal hyperplasia. Objective and Aim: Enzymatic and structural analysis of a novel L374H POR mutation from a patient with 46, XX disorder of sexual development. Design, setting, patient and intervention: 46,XX girl with non-consanguineous Turkish parents. Virilized external genitalia at birth; uterus and ovaries present, no sign of Antley-Bixler syndrome...
September 7, 2016: Journal of Clinical Endocrinology and Metabolism
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