Assessment of retinal thickness as a marker of brain masculinization in children with congenital adrenal hyperplasia: a pilot study

2019 ◽  
Vol 32 (7) ◽  
pp. 683-687 ◽  
Author(s):  
Hasan Onal ◽  
Esra Kutlu ◽  
Banu Aydın ◽  
Atilla Ersen ◽  
Neval Topal ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Retinal Thickness ◽  
Brain Structures ◽  
Morphological Evidence ◽  
Control Group ◽  
Adrenal Hyperplasia ◽  
Androgen Exposure ◽  
Significant Difference ◽  
Macular Retinal Thickness ◽  
Thickness Measurements

Abstract Objective To investigate the relationship between brain masculinization and retinal thickness in children with congenital adrenal hyperplasia (CAH). Methods Forty-five patients with CAH aged between 4 and 18 years and 30 age-matched healthy controls were included in this prospective study. Macular area was examined with optical coherence tomography (OCT); central subfield thickness (CST), cube volume (CV) and macular retinal thickness (MT) were measured in each subject. A gender identity questionnaire (GIQ) was used for the evaluation of gender happiness index. Results Girls with CAH had a higher CV (p = 0.002) and MT (p = 0.003) than healthy girls. No significant difference was found between boys with CAH and healthy boys regarding the retinal thickness measurements. Mean CST, CV and MT were significantly higher in boys than in girls in the control group (p = 0.013, p < 0.001, respectively), but there was no significant difference in those parameters between girls and boys with CAH. The gender happiness index was not different between healthy boys and boys with CAH, but was significantly lower in girls with CAH than healthy girls (p = 0.01). Conclusions As retina is part of the brain, our finding appears to be a morphological evidence of the excess androgen exposure on brain structures in girls with CAH. In addition, we suggest using retinal thickness measurements as a marker of prenatal excess androgen exposure in future studies.

scholarly journals Adrenomedullary Function in Cohort of Brazilian Pediatric Patients with Classic Congenital Adrenal Hyperplasia

2021 ◽  
Vol 2 (1) ◽  
pp. 20
Author(s):  
Talita Soriano Cruz Hovland ◽  
Izabel Calland Ricarte Beserra
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Cross Sectional Study ◽  
Primary Hypothyroidism ◽  
Control Group ◽  
Adrenal Hyperplasia ◽  
Cross Sectional ◽  
Salt Wasting ◽  
Clinical Complications ◽  
Classic Congenital Adrenal Hyperplasia ◽  
Significant Difference

Congenital Adrenal Hyperplasia is a group of autosomal recessive disorders resulting from deficiency of enzymes essential for the synthesis of cortisol. Disease of the adrenal cortex, but there may be involvement adrenomedullary. Cortisol and epinephrine are directly related to the individual’s stress response. Lower values of epinephrine in children with congenital adrenal yperplasia could be related to increased clinical complications and hospitalizations rate. We evaluated the serum values of metanephrines and normetanephrines in children and adolescents with classic congenital adrenal hyperplasia and primary hypothyroidism and possible correlations with disease and hospitalizations. Cross-sectional study involved 29 patients (10 simple virilizing and 19 salt-wasting), and control group of 28 patients with primary hypothyroidism (10 overt and 18 subclinical). There were no differences in age (p = 0.24) and metanephrine (p = 0.34) or normetanephrine values (p = 0.85) between groups.Hospitalization rate was higher in the cases than in the controls (51 x 12).We conclude the serum values of metanephrine and normetanephrine in patients with congenital adrenal hyperplasia were within the normal values of reference, with no significant difference of group with primary hypothiroidism. The number of hospitalizations in the case was high in relation to the control, mainly in salt-wasting.

The state of the Sertoli cells in the children and adolescents presenting with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

2015 ◽  
Vol 61 (4) ◽  
pp. 17-23
Author(s):  
I S Chugunov ◽  
A V Il’in ◽  
S V Bogolyubov ◽  
E S Kuznetsova ◽  
E M Orlova ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Sertoli Cells ◽  
Cell Activity ◽  
Negative Influence ◽  
Inhibin B ◽  
Control Group ◽  
Childhood And Adolescence ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

Introduction. Compromised fertility is one of the main health-related problems encountered by men suffering from 21-hydroxylase deficient congenital adrenal hyperplasia (CAH). This condition can be attributed either to the disease itself or to the presence of the testicular adrenal rest tissue (TART). The dysfunction of the reproductive system can be diagnosed as early as the childhood and adolescence based on the reduced levels of anti-müllerian hormone (AMH) and inhibin B, i.e. the specific markers of Sertoli cell activity. Materials and methods. We have examined 53 patients at the age varying from 1 to 19 years presenting with the confirmed diagnosis of 21-hydroxylase deficient congenital adrenal hyperplasia and 21 children aged from 6 to 17 years free from endocrine pathology (the control group). Special attention was given to the elucidation of the relationship between the inhibin B and AMH levels, the clinical form of the disease, and the presence of TART. Results. The level of inhibin B in the patients with congenital adrenal hyperplasia at the onset of puberty turned out to be lower compared with that in the control group, regardless of the form of the disease. The presence of TART was documented in 9 patients (30%) with salt-wasting CAH (SW CAH) and in 1 patient (4.3%) having the simple virilizing form of CAH (SV CAH). The patients with TART had a lower level of inhibin B but not AMH. Conclusion. The excessive production of androgens does not exert a negative influence on the activity of the Sertoli cells in the boys suffering from congenital adrenal hyperplasia prior to puberty. The lowered level of inhibin B during the pubertal period, in the absence of reduction of the AMH level, suggests dysfunction of the Sertoli cells. The dysfunction during puberty is especially well apparent in the presence of TART.

Cortisol response to adrenocorticotropin testing in non-classical congenital adrenal hyperplasia (NCCAH)

2016 ◽  
Vol 29 (12) ◽  
Author(s):  
Fotini-Heleni Karachaliou ◽  
Maria Kafetzi ◽  
Maria Dracopoulou ◽  
Elpis Vlachopapadopoulou ◽  
Sofia Leka ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Children And Adolescents ◽  
Control Group ◽  
Cortisol Response ◽  
Adrenal Hyperplasia ◽  
Acth Stimulation Test ◽  
Acth Stimulation ◽  
Baseline Cortisol ◽  
Discontinuation Of Treatment ◽  
And Control

Abstract Background: The adequacy of cortisol response in non-classical congenital adrenal hyperplasia (NCCAH) has not been fully elucidated. The aim was to evaluate cortisol response to adrenocorticotropin (ACTH) stimulation test in children and adolescents with NCCAH and heterozygotes for Methods: One hundred and forty-six children and adolescents, mean age 7.9 (0.7–17.5) years with clinical hyperandrogenism, were evaluated retrospectively. Thirty-one subjects had NCCAH, 30 were heterozygotes for Results: Baseline cortisol levels did not differ among NCCAH, heterozygotes, and normal responders: 15.75 (5.83–59.6) μg/dL vs. 14.67 (5.43–40.89) μg/dL vs. 14.04 (2.97–34.8) μg/dL, p=0.721. However, NCCAH patients had lower peak cortisol compared to heterozygotes and control group: 28.34 (12.25–84.40) vs. 35.22 (17.47–52.37) μg/dL vs. 34.92 (19.91–46.68) μg/dL, respectively, p=0.000. Peak cortisol was <18 μg/dL in 7/31 NCCAH patients and in one heterozygote. Conclusions: A percentage of 21.2% NCCAH patients showed inadequate cortisol response to ACTH stimulation. In these subjects, the discontinuation of treatment on completion of growth deserves consideration.

Development of visual contour integration in children with migraine without aura

Cephalalgia ◽  
2011 ◽  
Vol 31 (9) ◽  
pp. 1048-1056 ◽  
Author(s):  
Gábor Braunitzer ◽  
Alice Rokszin ◽  
Jenő Kóbor ◽  
Attila Nagy ◽  
László Sztriha ◽  
...  
Keyword(s):  
Migraine Without Aura ◽  
Random Noise ◽  
Ion Homeostasis ◽  
Brain Structures ◽  
Contour Integration ◽  
Control Group ◽  
Functional Deficits ◽  
Significant Difference ◽  
Noise Density ◽  
Visual Contour

Introduction: As migraine attacks pose insult to cerebral circulation and ion homeostasis, migraine has the potential to interfere with the development of different brain structures, producing functional deficits. It is known that visual contour integration (CI) is a function with a protracted development. Therefore, we sought to establish whether migraine interferes with its development. Methods: Forty-eight migraineurs (without aura) and 48 age- and sex-matched controls participated in the study, divided into three cohorts by age. Stimuli were presented on cards with a contour consisting of Gabor patches embedded in random noise. Difficulty was varied by the manipulation of relative noise density. The task was to identify and show the contour. Results: A significant difference was found between the performance of migraineurs and controls in the 10–14-year-old and 15–18-year-old cohorts ( p < 0.05). Development between all three cohorts was significant in the control group ( p < 0.017), while it was not significant in migraineurs between 6 and 14 years. Correlation between age and CI threshold was stronger in controls than in migraineurs. Conclusion: Children with paediatric migraine exhibited a less marked development in the Gabor patch-based CI task.

Hippocampal size did not differ between epileptic and non-epileptic dogs using volumetric and subjective methods

2021 ◽  
Author(s):  
Borbála A. Lőrincz ◽  
Agustina Anson ◽  
Stephan Handschuh ◽  
Alexander Tichy ◽  
Conor Rowan ◽  
...  
Keyword(s):  
Body Weight ◽  
Human Study ◽  
Positive Association ◽  
Brain Structures ◽  
Hippocampal Volume ◽  
The Body ◽  
Control Group ◽  
Volumetric Assessment ◽  
Significant Difference ◽  
Group A

AbstractHippocampal changes in epilepsy may manifest as hippocampal atrophy/sclerosis. A recent human study suggests that the demonstration of hippocampal volume loss is more reliable using quantitative evaluation methods. The aim of the present study was to obtain volumetric data in both epileptic and healthy dogs, to compare hippocampal volumes in both groups, and to compare subjective and volumetric assessment. Volumetric measurements of the hippocampi, lateral ventricles and hemispheria were performed in 31 epileptic and 15 control dogs. There was a positive association between the body weight and the hemispheric volume, as well as between the hemispheric volume and the ipsilateral hippocampal volume. There was no significant correlation between age and the volume of any measured brain structures. There was no statistically significant difference between the hippocampal volumes of the control group and the epileptic group. A statistically significant difference between the two groups for hippocampus/hemispherium ratio or hippocampal asymmetric ratio was not identified. An extrapolated hippocampal volume based on body weight was not possible in this study population.

scholarly journals Non-Classical Congenital Adrenal Hyperplasia-Causing Alleles in Adolescent Girls with PCOS and in Risk Group for PCOS Development

Diagnostics ◽  
2021 ◽  
Vol 11 (6) ◽  
pp. 980
Author(s):  
Lasma Lidaka ◽  
Laine Bekere ◽  
Gunta Lazdane ◽  
Iveta Dzivite-Krisane ◽  
Anda Kivite-Urtane ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Phenotypic Expression ◽  
Clinical Manifestations ◽  
Control Group ◽  
Compound Heterozygous ◽  
Heterozygous State ◽  
Adrenal Hyperplasia ◽  
Cyp21a2 Gene ◽  
Female Population ◽  
Increased Risk

Background: Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women. Depending on the diagnostic criteria applied, it occurs in up to 16.6% of the general female population. Congenital adrenal hyperplasia includes a group of autosomal recessive disorders, the most common of which is non-classical congenital adrenal hyperplasia (NCAH) caused by mutations in the CYP21A2 gene. PCOS and NCAH have similar clinical manifestations (hyperandrogenemia, i.e., hirsutism, acne, alopecia, and increased androgen levels in the blood) and potential impact on long-term health (infertility, increased risk of type 2 diabetes, and cardiovascular disease. Consequently, it is thought that NCAH mutations in the heterozygous state may play a role in PCOS development and phenotypic expression. Objective: To determine the prevalence of the most common pathogenic alleles of the CYP21A2 gene in adolescents with PCOS and adolescents at risk of PCOS development, and to compare the results with healthy adolescents matched for gynecological age. Methods: A cross-sectional study was conducted with 55 PCOS patients, 23 risk patients (with hyperandrogenism but a normal menstrual cycle), and 49 healthy adolescents. Genetic variations in the CYP21A2 gene were analyzed using a standard Multiplex Ligation-dependent Probe Amplification test (SALSA MLPA Probemix P050-C1 CAH; MRC Holland). Results: No significant differences were found among the three groups regarding the frequency of carriers of NCAH variations in the heterozygous state. It was found that the I172N carrier in the PCOS group had a significantly higher Global Acne Grading Scale score than PCOS patients without this variation (p = 0.038). Within the control group of healthy adolescents, compound heterozygous carriers (IVS2-12A > G and -113G > A) had a significantly higher body mass index than non-carriers (p = 0.036). Conclusion: We found no differences in the incidence of NCAH-causing variations in the heterozygous state in adolescent PCOS patients, risk adolescents (with hirsutism but normal menstruation), and healthy adolescents. Future studies of larger cohorts and rarer pathogenic CYP21A2 gene variations are required.

Serum 3α-androstanediol glucuronide measurements in children with congenital adrenal hyperplasia

1994 ◽  
Vol 131 (5) ◽  
pp. 504-508 ◽  
Author(s):  
Sükrü Hatun ◽  
Nurşen Yordam ◽  
Ali Süha Çalikoǧlu
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Control Group ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Female Children ◽  
The Mean ◽  
Simple Virilizing ◽  
17 Hydroxyprogesterone ◽  
21 Hydroxylase Deficiency ◽  
Androstanediol Glucuronide

Hatun Ş, Yordam N, Çalikoǧlu AS. Serum 3α-androstandiol glucuronide measurements in children with congenital adrenal hyperplasia. Eur J Endocrinol 1994;131:504–8. ISSN 0804–4643 To determine the value of 3α-androstanediol glucuronide (3-AG) measurements in children with congenital adrenal hyperplasia, we compared serum 3AG, 17-hydroxyprogesterone (17-OHP), androstenedione (A), testosterone (T) and dihydrotestosterone (DHT) levels and 24-h urinary 17-ketosteroid (17-KS) excretion in 42 female children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, including 27 with the simple virilizing and 15 with the salt-losing form. Their mean age was 74.5 ±48.5 months (range, 6–194 months). Twenty-four-hour urinary 17-KS excretion and serum 3-AG, A, T, DHT and 17-OHP levels were measured in the patients. The values were less than the mean + 2 sd of the control group in 63%, 74%, 67%, 69%, 60% and 31% of the patients, respectively. Serum 3-AG levels correlated with 24-h urinary 17-KS excretion (r = 0.66) and plasma A (r = 0.80), 17-OHP (r = 0.56), T (r = 0.79) and DHT (r = 0.62) levels. We conclude that serum 3-AG is a useful metabolic index in the management of children with congenital adrenal hyperplasia. Şükrü Hatun, Türk-İş Blk, 274/7, Aydinlikevler, Ankara, Turkey

scholarly journals Personality and congenital adrenal hyperplasia: Possible effects of prenatal androgen exposure

2009 ◽  
Vol 55 (2) ◽  
pp. 285-291 ◽  
Author(s):  
Greta A. Mathews ◽  
Briony A. Fane ◽  
Gerard S. Conway ◽  
Charles G.D. Brook ◽  
Melissa Hines
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Androgen Exposure ◽  
Prenatal Androgen Exposure ◽  
Prenatal Androgen
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