scholarly journals A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations

2018 ◽  
Vol 10 (3) ◽  
pp. 206-215 ◽  
Author(s):  
Aslı Derya Kardelen ◽  
Güven Toksoy ◽  
Firdevs Baş ◽  
Zehra Yavaş Abalı ◽  
Genco Gençay ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Novel Mutations ◽  
Hydroxylase Deficiency

scholarly journals Concurrence of Meningomyelocele and Salt-Wasting Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Heves Kırmızıbekmez ◽  
Rahime Gül Yesiltepe Mutlu ◽  
Serdar Moralıoğlu ◽  
Ahmet Tellioğlu ◽  
Ayşenur Cerrah Celayir
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Growth Retardation ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Salt Wasting ◽  
Significant Regression ◽  
One Year ◽  
The One ◽  
21 Hydroxylase Deficiency

Congenital adrenal hyperplasia (CAH) is a group of inherited defects of cortisol biosynthesis. A case of classical CAH due to 21-hydroxylase deficiency (21-OHD) with early onset of salt waste and concurrence of meningomyelocele (MMC) was presented here. The management of salt-wasting crisis which is complicated by a postrenal dysfunction due to neurogenic bladder was described. Possible reasons of growth retardation in the one-year follow-up period were discussed. A significant regression of the phallus with proper medical treatment was also mentioned.

scholarly journals Sonographic features of the testicular adrenal rests tumors in patients with congenital adrenal hyperplasia: a single-center experience and literature review

2019 ◽  
Vol 14 (1) ◽  
Author(s):  
Li Ma ◽  
Yu Xia ◽  
Linlin Wang ◽  
Ruifeng Liu ◽  
Xuepei Huang ◽  
...  
Keyword(s):  
Literature Review ◽  
Congenital Adrenal Hyperplasia ◽  
Medical Center ◽  
Semen Analysis ◽  
Steroid Treatment ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Scrotal Ultrasound ◽  
Testicular Lesions

Abstract Purpose Testicular adrenal rests tumor (TART) is a rare kind of benign tumor in the testis. It usually occurred secondary to congenital adrenal hyperplasia (CAH), a hormonal disorder caused by hydroxylase deficiency. As the first-line examination method, ultrasound provides crucial diagnostic information for TART, although misdiagnosis to malignancy is quite common because of its rare prevalence. We aimed to summarize the sonographic manifestations of TART to improve the diagnostic accuracy and specificity. Methods Eight CAH patients with TART identified by ultrasound in our medical center were retrospectively reviewed. Clinical and hormonal profile, semen analysis and treatment choices were collected. Sonographic examinations were performed at the first evaluation and interpreted by experienced radiologists individually. All patients received regular follow-up, and 5 patients undertook repeated scrotal ultrasound. A literature review of TART in CAH patients was conducted, with 123 patients from 23 articles since 1990 included. Results A total of 8 patients aged between 4 to 27 years old were enrolled. 7 of 8 (87.5%) patients exhibited bilateral testicular lesions. The sizes of the testicular lesions were between 0.18 ml to 5.68 ml, and all showed a clear boundary. 10/15 (66.7%) lesions were homogenously hypoechoic, 4/15 (26.7%) were heterogeneously iso-hypoechoic, and 1/15 (6.7%) were homogenously isoechoic. 10/15 (66.7%) lesions were hyper-vascular. The longitudinal follow-up of 5 patients showed testicular lesions changed in terms of size, echogenicity, and vascularity after steroid treatment. A potential correlation may exist between ACTH levels and tumor size (p = 0.066). From the literature review, 100/123 (81%) patients got bilateral lesions, and 95% of them were located near the mediastinum. 80/103 (78%) lesions exhibited a clear boundary, and predominant lesions (74%) were hypoechogenic. Vascularity was with great diversity. Seventy-nine lesions of 44 patients were followed-up by scrotal ultrasound, among which 29 (37%) remained unchanged, 29(37%) shrank, and 21(27%) disappeared. Conclusions Key sonographic characteristics of TART are: resembled lesions on both testes, located near the mediastinum, clear boundary, and changed in size or echogenicity after steroid treatment. These features can help radiologists to make an accurate diagnosis of TART.

Diagnosis, treatment and preventive measures in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in patients in adulthood

2016 ◽  
Vol 3 (1) ◽  
pp. 26-32
Author(s):  
Natalya V. Molashenko ◽  
A. I Sazonova ◽  
E. A Troshina
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Replacement Therapy ◽  
Diagnostic Tests ◽  
Preventive Measures ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

In the article there are presented main approaches to the diagnosis, treatment and follow-up of patients with classical and nonclassical forms of 21-hydroxylase deficiency. The techniques of diagnostic tests and parameters of hormonal indices for the assessment of the adequacy of replacement therapy with glucocorticoids and mineralocorticoids are considered.

Long-term follow-up of congenital adrenal hyperplasia due to 11[beta]-hydroxylase deficiency

2018 ◽  
Author(s):  
Hamza Elfekih ◽  
Yosra Hasni ◽  
Wafa Badr ◽  
Asma Ben Abdelkrim ◽  
Bilel Ben Amor ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Long Term Follow Up

scholarly journals Bilateral Laparoscopic Adrenalectomy for Congenital Adrenal Hyperplasia with Severe Hypertension, Resulting from Two Novel Mutations in Splice Donor Sites of CYP11B1

2000 ◽  
Vol 85 (11) ◽  
pp. 4060-4068 ◽  
Author(s):  
Olivier Chabre ◽  
Stéphanie Portrat-Doyen ◽  
Philippe Chaffanjon ◽  
Josiane Vivier ◽  
Panagiotis Liakos ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Laparoscopic Adrenalectomy ◽  
Severe Hypertension ◽  
Uncontrolled Hypertension ◽  
Adrenal Hyperplasia ◽  
Novel Mutations ◽  
Hydroxylase Deficiency ◽  
Messenger Ribonucleic Acid

We present an in vivo and in vitro study of congenital adrenal hyperplasia in a patient with 11β-hydroxylase deficiency. Sequencing of the CYP11B1 gene showed two new base substitutions, a conservative 954 G→C transversion at the last base of exon 5 (T318T), and a IVS8 + 4A→G transition in intron 8. In addition, two polymorphisms were found in exons 1 and 2. The genetically female patient was raised as a male because of severe pseudohermaphroditism. Glucocorticoid-suppressive treatment encountered difficulties in equilibration and compliance, resulting in uncontrolled hypertension with pronounced hypertrophic cardiomyopathy. At 42 yr of age the occurrence of central retinal vein occlusion with permanent loss of left eye vision led to the decision to perform bilateral laparoscopic adrenalectomy. Surgery was followed by normalization of blood pressure and good compliance with glucocorticoid and androgen substitutive therapies. In vitro, adrenal cells in culture and isolated mitochondria showed extremely low 11β-hydroxylase activity. Analysis of adrenal CYP11B1 messenger ribonucleic acid (mRNA) by RT-PCR and sequencing showed the expression of a shorter mRNA that lacked exon 8 and did not contain either the exon 5 mutation or the exon 1 and 2 polymorphisms. This suggested that one CYP11B1 allele carried the intron 8 mutation, responsible for skipping exon 8. The other allele carried the exon 5 mutation, and its mRNA was not detectable. Western blot analysis showed weak expression of a shorter CYP11B immunoreactive band of 43 kDa, consistent with truncation of exon 8. Thus, bilateral adrenalectomy in this patient allowed effective treatment of severe hypertension and helped in understanding the mechanisms and physiopathological consequences of two novel mutations of CYP11B1.

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