Testicular Adrenal Rest Tumor in 11-Beta-Hydroxylase Deficiency Driven Congenital Adrenal Hyperplasia

Kaynar, Mehmet; Sönmez, Mehmet Giray; Ünlü, Yaşar; Karatag, T.; Tekinarslan, Erdem; Sümer, Alpay

doi:10.4111/kju.2014.55.4.292

Cited by 7 publications

(6 citation statements)

References 8 publications

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“…Semen analysis was only available in one case who was noted to be azoospermic. Similarly, another case report of 11βOHD and bilateral TART diagnosed at the age of 16 years wherein semen analysis revealed oligoasthenoteratoazoospermia [146]. In two cases reported of TARTs and 11βOHD, one had oligospermia [144].…”

Section: Testicular Adrenal Rest Tumorsmentioning

confidence: 91%

“…Based on the semen analyses results available in patients with 11βOHD mentioned above, it is evident that azoospermia is common [144][145][146]. Of note, the semen analyses results are available only in cases diagnosed with TARTs which may give an impression of falsely high levels of subfertility in males with 11βOHD.…”

Section: Male Fertilitymentioning

confidence: 92%

“…Two case series and one case report describe patients with 11βOHD and TARTs [144][145][146]. One of these series was a follow-up study of 60 boys and adolescent males with CAH of which five had 11βOHD.…”

Section: Testicular Adrenal Rest Tumorsmentioning

confidence: 99%

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Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

2016

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Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency is a rare autosomal recessive genetic disorder. It is caused by reduced or absent activity of 11β-hydroxylase (CYP11B1) enzyme and the resultant defects in adrenal steroidogenesis. The most common clinical features of 11 beta-hydroxylase deficiency are ambiguous genitalia, accelerated skeletal maturation and resultant short stature, peripheral precocious puberty and hyporeninemic hypokalemic hypertension. The biochemical diagnosis is based on raised serum 11-deoxycortisol and 11-deoxycorticosterone levels together with increased adrenal androgens. More than 100 mutations in CYP11B1 gene have been reported to date. The level of in-vivo activity of CYP11B1 relates to the degree of severity of 11 beta-hydroxylase deficiency. Clinical management of 11 beta-hydroxylase deficiency can pose a challenge to maintain adequate glucocorticoid dosing to suppress adrenal androgen excess while avoiding glucocorticoid-induced side effects. The long-term outcomes of clinical and surgical management are not well studied. This review article aims to collate the current available data about 11 beta-hydroxylase deficiency and its management.

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Section: Testicular Adrenal Rest Tumorsmentioning

confidence: 91%

Section: Male Fertilitymentioning

confidence: 92%

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Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

2016

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“…Các đột biến xuất hiện trên toàn bộ 9 exon nhưng thường gặp trên exon 6 và exon 8 (Chabraoui et al, 2010;Kharrat et al, 2010;Parajes et al, 2010;Ye et al, 2010;Wu et al, 2011;Ben Charfeddine et al, 2012;Carvajal et al, 2012;Melcescu et al, 2012;Nguyen et al, 2012;Xu et al, 2012;Abbaszadegan et al, 2013;Alvarez-Madrazo et al, 2013;Menabo et al, 2013;M. Zhang et al, 2013;Kamrath et al, 2014;Kaynar et al, 2014;Matsubara et al, 2014;Polat et al, 2014;Alqahtani et al, 2015;Menabo et al, 2015;Mooij et al, 2015;Nguyen et al, 2015). Điều này chỉ ra các amino acid quan trọng cũng như các vùng amino acid mã hóa quan trọng của enzyme.…”

Section: Tình Hình Nghiên Cứu Bệnh Thiếu Hụt 11β-hydroxylaseunclassified

“…Các đột biến trên gen CYP11B1 được tìm thấy rất đa dạng và rải rác trên toàn bộ gen (Hình 2). Các đột biến này được phát hiện đa dạng trên các bệnh nhân ẩn tinh hoàn hai bên (Nour,Pacaud 2015); bệnh nhân u nang thận và Ca ++ hoá thận (Aswani et al, 2015); viêm cơ tim (Alqahtani et al, 2015); u tuyến thượng thận (Kaynar et al, 2014)…Tuy nhiên mối liên hệ giữa kiểu gen và kiểu hình cũng chưa được sáng tỏ. Mặt khác, tỷ lệ các loại đột biến ở các chủng tộc là khác nhau.…”

Section: Tình Hình Nghiên Cứu Bệnh Thiếu Hụt 11β-hydroxylaseunclassified

11β-hydroxylase deficiency disorders

Phương

Hải

Hoàng

2018

Vietnam J. Biotechnol.

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Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders which is characterized by a deficiency of one of the enzymes involved in the synthesis of cortisol from cholesterol by the adrenal cortex. 90% CAH patients respond to 21-hydroxylase deficiency. Less causes include deficiencies of 11β-hydroxylase (11-OH), 17- hydroxylase (17-OH), 3β- hydroxysteroid dehydrogenase (3β- HSD), 20/22 Desmolase etc.. Because of the blocked enzymatic steps, cortisol precursors usually presents with signs of androgen excess which are secreted and cause in masculinization of female external genital, hyponatremia, hyperkalemia and hypovolemia in the classic form due to 21-hydroxylase deficiency. By the early 1950s, it was recognized that in some CAH patients with hypertension develops. This symptom responds to glucorticoid replacement. Most of these patients have an 11β-hydroxylase deficiency. CAH cases arise from 11β-hydroxylase impaired is the second most common form. Mutations in the CYP11B1 gene are the cause of 11β-hydroxylase deficiency. The incident of 11β-hydroxylase deficiency is about 5% to 8% of cases with CAH, in approximately 1/100,000 live birth. Mutations have been detected from different ethnic backgrounds with the highest incidence in group of Morrocan Jews. This article reviews function of enzyme 11β-hydroxylase in cortisol synthesis of andrenal cortex, structure of CYP11B1 gene, diagnosis and treatment of 11β-hydroxylase deficiency and summarised of researching in Wordwild and in Vietnam. Genetic characterization of CYP11B1 genotype has improved our understanding of the phenotype differences in patients. This could be serve as a the basis for genetic counseling and prenatal diagnosis in the future.

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11β-Hydroxylase Deficiency

Bulsari¹,

Falhammar²

2019

Encyclopedia of Endocrine Diseases

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Testicular Adrenal Rest Tumor in 11-Beta-Hydroxylase Deficiency Driven Congenital Adrenal Hyperplasia

Cited by 7 publications

References 8 publications

Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

11β-hydroxylase deficiency disorders

11β-Hydroxylase Deficiency

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