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Late onset congenital adrenal hyperplasia

Andrés E Ortiz-Flores, Elisa Santacruz, Lucía Jiménez-Mendiguchia, Ana García-Cano, Lia Nattero-Chávez, Héctor F Escobar-Morreale, Manuel Luque-Ramírez
OBJECTIVES: Aiming to validate the use of a single poststimulus sampling protocol for cosyntropin test short standard high-dose test (SST) in our institution, our primary objectives were (1) to determine the concordance between 30 and 60 min serum cortisol (SC) measurements during SST; and (2) to evaluate the diagnostic agreement between both sampling times when using classic or assay-specific and sex-specific SC cut-off values. The secondary objectives included (1) estimating the specificity and positive predictive value of 30 and 60 min sampling times while considering the suspected origin of adrenal insufficiency (AI); and (2) obtaining assay-specific cut-off values for SC after SST in a group of subjects with normal hypothalamic-pituitary-adrenal (HPA) axis...
May 5, 2018: BMJ Open
Ziwei Goh, Ian Phillips, Penny J Hunt, Steven Soule, Tom J Cawood
BACKGROUND: Management of adrenal incidentalomas (AI) is becoming more conservative, based on international data showing a low incidence of functional or malignant lesions. The clinical characteristics of AI in New Zealand are unknown. Therefore, whether the AI guidelines apply to the New Zealand population is also unknown. AIMS: To investigate the clinical characteristics of patients with AI presenting to a tertiary-care centre in New Zealand. METHOD: This study prospectively evaluated consecutive patients aged 18 or older with AI, 1 cm or larger, diagnosed in Canterbury, New Zealand...
February 2018: Internal Medicine Journal
Leandro Simonetti, Carlos D Bruque, Cecilia S Fernández, Belén Benavides-Mori, Marisol Delea, Jorge E Kolomenski, Lucía D Espeche, Noemí D Buzzalino, Alejandro D Nadra, Liliana Dain
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroidogenesis. Disorders in steroid 21-hydroxylation account for over 95% of patients with CAH. Clinically, the 21-hydroxylase deficiency has been classified in a broad spectrum of clinical forms, ranging from severe or classical, to mild late onset or non-classical. Known allelic variants in the disease causing CYP21A2 gene are spread among different sources. Until recently, most variants reported have been identified in the clinical setting, which presumably bias described variants to pathogenic ones, as those found in the CYPAlleles database...
January 2018: Human Mutation
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 2016: Archives of Endocrinology and Metabolism
Jasmin L Shearer, Nabeel Salmons, Damian J Murphy, Rousseau Gama
We report a 70-year-old female presenting with increased libido and mild but rapid onset virilism. Investigations showed markedly elevated androstenedione and 17 hydroxyprogesterone misdirecting to possible late-onset congenital adrenal hyperplasia. High serum testosterone and oestrogens with suppressed gonadotrophins, however, indicated an androgen-secreting tumour. A normal dehydroepiandrosterone sulphate and elevated inhibins A and B indicated the tumour was ovarian in origin, which was confirmed on pelvic examination and imaging...
January 2017: Annals of Clinical Biochemistry
Nurgun Kandemir, Didem Yucel Yilmaz, E Nazli Gonc, Alev Ozon, Ayfer Alikasifoglu, Ali Dursun, R Koksal Ozgul
11β-Hydroxylase deficiency is the second most frequent type of congenital adrenal hyperplasia and is more common in those of Turkish descent than in other populations. The purpose of this study is to examine the spectrum of CYP11B1 gene mutations in Turkish patients with 11β-hydroxylase deficiency. Twenty-eight patients from 24 families, ages ranging from 0.1 to 7 years, were included in the study. Clinical diagnosis was based on virilization and high levels of 11-deoxycortisol. Twenty-six cases exhibited the classical and 2 cases the non-classical form...
January 2017: Journal of Steroid Biochemistry and Molecular Biology
Elwira Przybylik-Mazurek, Anna Kurzynska, Anna Skalniak, Alicja Hubalewska-Dydejczyk
Congenital adrenal hyperplasia (CAH) is one of the most common diseases transmitted in an autosomal recessive manner and is caused by mutations of enzymes which are responsible for the process of adrenal steroidogenesis. According to the impairment of enzymes involved in steroidogenesis, several types of CAH can be distinguished. The most common type is associated with mutations in the CYP21A2 gene, encoding 21-hydroxylase enzyme and has different clinical forms: Classical (in which there are two types: salt wasting and simple virilization) and non-classical, characterized by less severe symptoms and late onset...
2015: Recent Patents on Endocrine, Metabolic & Immune Drug Discovery
Vassos Neocleous, Christos Shammas, Alexia Ap Phedonos, Leonidas A Phylactou, Nicos Skordis
OBJECTIVES: The objective was to seek evidence on the prevalence and consequences of heterozygous CYP21A2 mutations in girls, adolescent, and adult females with clinical manifestation of androgen excess. PATIENTS AND METHODS: The study included 64 girls diagnosed with premature adrenarche (PA) in childhood and 141 females with clinical hyperandrogenemia manifested in adolescence or adulthood. Direct DNA sequencing and multiplex ligation-dependent probe amplification analysis were used to identify mutations in the CYP21A2 gene...
November 2014: Indian Journal of Endocrinology and Metabolism
Yuki Kawashima, Takeshi Usui, Masanobu Fujimoto, Naoki Miyahara, Rei Nishimura, Keiichi Hanaki, Susumu Kanzaki
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is caused by mutations in the CYP21A2 gene. The residual enzyme activity is strongly associated with the phenotype. We describe a rare case of CAH with a rare CYP21A2 mutation. The patient was a one-year-old Japanese boy. At 16 days old, he was referred to our hospital because of elevated serum 17-OH-progesterone (17-OHP) levels in neonatal screening. The compound heterozygous mutations (IVS2-13 A/C>G, and p.E431K) in CYP21A2 were identified at 2 months old, and we diagnosed non-classical CAH, since he did not have significant physical signs (pigmentation and salt-wasting)...
2015: Endocrine Journal
Gurbuz Erdogan, Recai Pabuccu, Sibel Ertek, Shoshana Israel, Banu Yilmaz, Hilal Yilmaz, Gamze Caglar
Although hirsutism is classically part of the clinical presentation of polycystic ovarian syndrome (PCOS), congenital adrenal hyperplasia and Cushing's syndrome (CS), CS associated with underlying late-onset congenital adrenal hyperplasia (LCAH) in an adult has not been previously reported. We herein present the case of a 25-year-old woman who was followed for PCOS for seven years. After undergoing detailed tests described within the text, she received the diagnosis of LCAH and was found to have point mutations...
2014: Internal Medicine
S Sahmay, A Tuten, H Gurleyen, M Oncul, A Benian, C Tamer Erel
AIM: Aim of the study was to investigate the need to perform the adrenocorticotropic hormone (ACTH) stimulation test by recognizing the importance of a second look at basal serum 17-alpha hydroxyprogesterone (17-OHP) levels and calculating new serum 17-OHP cut-off level. METHODS: A total of 142 patients who had hyperandrogenism symptoms and had basal serum 17-OHP levels of higher than 1.3 ng/mL were scheduled to have an ACTH stimulation test performed. Prior to ACTH stimulation, 17-OHP levels were recorded and as second-look levels...
September 2014: Minerva Endocrinologica
Johari Mohd Ali, Muhammad Yazid Jalaludin, Fatimah Harun
We report a novel NR0B1 mutation in a patient affected with X-linked adrenal hypoplasia congenita (X-AHC). The proband first presented with a generalized convulsion at 11 years, 4 months. His clinical and biochemical presentations were consistent with adrenal insufficiency. His basal 17-hydroxyprogesterone (17-OHP) level was not high, and the poor response in 17-OHP on ACTH stimulation test excluded congenital adrenal hyperplasia. At 14 years of age, he did not show any signs of puberty, with low levels of LH, FSH, and testosterone and unresponsiveness to lutenizing hormone releasing hormone stimulation test...
November 2014: Journal of Pediatric Endocrinology & Metabolism: JPEM
Mariana Moysés-Oliveira, Tatiane I Mancini, Sylvia S Takeno, Andressa D S Rodrigues, Tania A S S Bachega, Debora Bertola, Maria Isabel Melaragno
Cryptic deletions in balanced de novo translocations represent a frequent cause of abnormal phenotypes, including Mendelian diseases. In this study, we describe a patient with multiple congenital abnormalities, such as late-onset congenital adrenal hyperplasia (CAH), primary ovarian failure and Ehlers-Danlos syndrome (EDS), who carries a de novo t(6;14)(p21;q32) translocation. Genomic array analysis identified a cryptic 1.1-Mb heterozygous deletion, adjacent to the breakpoint on chromosome 6, extending from 6p21...
2014: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
Mahmut Oncul, Sezai Sahmay, Abdullah Tuten, Abdullah S Acikgoz, Hazel C Gurleyen
OBJECTIVE: To determine whether women with polycystic ovary syndrome (PCOS) would be distinguishable from women with late onset congenital adrenal hyperplasia (LOCAH) on the basis of antimullerian hormone (AMH) levels. STUDY DESIGN: PCOS was diagnosed in 170 women; 105 were polycystic ovary morphology (PCOM)+/oligo-anovulation (OA)+/hyperandrogenism (HA)+, 40 PCOM+/OA-/HA+ and 25 PCOM-/OA+/HA+. These three groups were compared with 25 women in whom LOCAH was diagnosed...
July 2014: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Abdullah Tuten, Sezai Sahmay, Mahmut Oncul, Abdullah Serdar Acikgoz, Metehan Imamoglu, Hazel Cagin Gurleyen, Mehmet Levent Senturk
OBJECTIVE: To investigate the diagnostic potential of anti-Müllerian hormone (AMH) in the differential diagnosis of various hyperandrogenemic conditions. STUDY DESIGN: Among 2241 consecutive women of reproductive age who were seen at a tertiary care university hospital with complaints of acne, hirsutism, androgenetic alopecia, and menstrual dysfunction (oligomenorrhea and/or amenorrhea), 107 patients with serum 17α-hydroxyprogesterone (17α-OHP) levels higher than 2 ng/ml were recruited for this study...
June 2014: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Sebastian Gidlöf, Anna Wedell, Claes Guthenberg, Ulrika von Döbeln, Anna Nordenström
IMPORTANCE: Recent reports have questioned the rationale for neonatal screening for congenital adrenal hyperplasia (CAH) owing to low sensitivity in salt-wasting forms and a high rate of recall (ie, a positive finding resulting in a visit to a pediatrician and a second test) in preterm infants. OBJECTIVE: To determine the efficiency of the neonatal screening program for CAH in Sweden over time. DESIGN, SETTING, AND PARTICIPANTS: Longitudinal prospective population-based study in Sweden...
June 2014: JAMA Pediatrics
Anne Bachelot, Philippe Touraine
Congenital adrenal hyperplasia (CAH) is the commonest genetic endocrine disorder. Mutations in the 21-hydroxylase gene account for 95 % of cases. CAH is classified according to symptoms and signs and to age of presentation. The clinical phenotype is typically classified as classic, the severe form, or nonclassic (NCF), the mild or late-onset form. Classic CAH is a life-long chronic disorder. In childhood, treatment focuses on genital surgery and optimization of growth and pubertal development. Priorities change with increasing age, typically focusing on fertility in early adult life and prevention of metabolic syndrome and osteoporosis in middle and older age...
April 2014: La Presse Médicale
K Sudeep, Joison Abraham, Lakshmi Seshadri, M S Seshadri
The most common cause for menstrual abnormality and virilization in children and adolescents would be congenital adrenal hyperplasia. An elevated 17(OH) progesterone is invariably seen in this condition. Aromatase deficiency can also lead to a similar presentation but differs in several aspects. The age of onset of the clinical manifestations, the phenotype, biochemical abnormalities and karyotype help us to arrive at a definitive diagnosis. However sometimes the history is atypical, biochemical abnormalities may overlap between the different conditions and prior treatment may modify the clinical features...
May 2013: Journal of the Association of Physicians of India
Melisa Taboas, Cecilia Fernández, Susana Belli, Noemi Buzzalino, Liliana Alba, Liliana Dain
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency accounts for 90%-95% of cases. This autosomal recessive disorder has a broad spectrum of clinical forms, ranging from severe or classical, which includes the salt-wasting and simple virilizing forms, to the mild late onset or nonclassical form. Most of the disease-causing mutations described are likely to be the consequence of nonhomologous recombination or gene conversion events between the active CYP21A2 gene and its homologous CYP21A1P pseudogene...
2013: Case Reports in Genetics
Selma Feldman Witchel
Non-classic or late-onset congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders. Reported prevalence is approximately 1 in 1000. Affected individuals typically present due to signs and symptoms of androgen excess. The purpose of this review is to provide current information regarding the pathophysiology, molecular genetics, and management of this common disorder. The treatment of NCAH needs to be directed towards the symptoms. For affected children, goals of treatment include normal linear growth velocity, normal rate of skeletal maturation, "on-time" puberty...
August 2013: Steroids
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