A Patient With Refractory Testicular Adrenal Rest Tumour in the Setting of Cyp11b1 Deficiency Congenital Adrenal Hyperplasia

A Patient With Refractory Testicular Adrenal Rest Tumour in the Setting of Cyp11b1 Deficiency Congenital Adrenal Hyperplasia Publisher

Mirzaei MR¹ ; Rezvanian H¹ ; Siavash M¹ ; Parham M² ; Mahzouni P³

Show Affiliations

1. Isfahan University of Medical Sciences, Isfahan Endocrine and Metabolism Research Center, Sedigheh Tahereh Medical Research Complex, Isfahan, 8187698191, Khorram Street, Iran
2. Qom University of Medical Sciences, Endocrine and Metabolism Department, Qom, 8187698191, Saheli Street, Iran
3. Isfahan University of Medical Science, Department of Pathology, Alzahra Hospital, Isfahan, 8187698191, Iran

Source: BMJ Case Reports Published:2009

Abstract

Testicular adrenal rest tumour (TART) due to CYP11B1 deficiency is a very rare clinical finding. Only seven cases have been reported previously. Here, the case of a 19-year-old boy with classic CYP11B1 deficiency and large testicles refractory to medical treatment that led to orchidectomy is reported. The clinical and laboratory manifestations of this patient are discussed and compared with that of the previously reported cases. The patient presented with rapid body growth, precocious puberty, hypertension, recurrent hypokalaemic paralysis and testicular enlargement. The most important differential diagnosis of his latter presentation is Leydig cell tumour (LCT). It was found that positive family history of congenital adrenal hyperplasia (CAH), hypertension, bilaterality, hypokalaemia and multiple hypoechoic masses on ultrasonography of the testes are in favour of a diagnosis of TART. Conversely, high titres of tumour markers and presence of Reinke crystalloids are supportive of a diagnosis of LCT.

Related Docs

1. A Rare Testicular Tumor With Elevated Alkaline Phosphatase, Journal of Nephropathology (2018)

2. The Relative Prevalence of Testicular Adrenal Rest Tumors in Fewer Than 20-Years-Old Boys With Congenital Adrenal Hyperplasia, Journal of Isfahan Medical School (2014)

3. Too Late Relapse of Testicular Cancer After 27 Years; a Case Report, Journal of Nephropathology (2018)

4. Demographic Characteristics and Clinical Findings in Patients With Congenital Adrenal Hyperplasia in Isfahan City, Iran, Journal of Isfahan Medical School (2018)

5. A Bilobed Testicle Diagnosed With Ultrasound in an 18-Year-Old Boy, Journal of Research in Medical Sciences (2016)

6. 23-Year-Old Male With Testis Cancer With Spontaneous Ruptured Teratocarcinoma and No History of Trauma: A Case Report, Case Reports in Oncology (2023)

Experts (# of related papers)

View all Related Experts

Mahin Hashemipour (2)

Ali Haji Gholami (1)

Style	Citing Format
MLA	Mirzaei MR, et al.. "A Patient With Refractory Testicular Adrenal Rest Tumour in the Setting of Cyp11b1 Deficiency Congenital Adrenal Hyperplasia." BMJ Case Reports, vol. , no. , 2009, pp. -.
APA	Mirzaei MR, Rezvanian H, Siavash M, Parham M, Mahzouni P (2009). A Patient With Refractory Testicular Adrenal Rest Tumour in the Setting of Cyp11b1 Deficiency Congenital Adrenal Hyperplasia. BMJ Case Reports, (), -.
Chicago	Mirzaei MR, Rezvanian H, Siavash M, Parham M, Mahzouni P. "A Patient With Refractory Testicular Adrenal Rest Tumour in the Setting of Cyp11b1 Deficiency Congenital Adrenal Hyperplasia." BMJ Case Reports , no. (2009): -.
Harvard	Mirzaei MR et al. (2009) 'A Patient With Refractory Testicular Adrenal Rest Tumour in the Setting of Cyp11b1 Deficiency Congenital Adrenal Hyperplasia', BMJ Case Reports, (), pp. -.
Vancouver	Mirzaei MR, Rezvanian H, Siavash M, Parham M, Mahzouni P. A Patient With Refractory Testicular Adrenal Rest Tumour in the Setting of Cyp11b1 Deficiency Congenital Adrenal Hyperplasia. BMJ Case Reports. 2009;():-.
BibTex	@article{ author = {Mirzaei MR and Rezvanian H and Siavash M and Parham M and Mahzouni P}, title = {A Patient With Refractory Testicular Adrenal Rest Tumour in the Setting of Cyp11b1 Deficiency Congenital Adrenal Hyperplasia}, journal = {BMJ Case Reports}, volume = {}, number = {}, pages = {-}, year = {2009} }
RIS	TY - JOUR AU - Mirzaei MR AU - Rezvanian H AU - Siavash M AU - Parham M AU - Mahzouni P TI - A Patient With Refractory Testicular Adrenal Rest Tumour in the Setting of Cyp11b1 Deficiency Congenital Adrenal Hyperplasia JO - BMJ Case Reports VL - IS - SP - EP - PY - 2009 ER -

Science Communicator Platform

Authors

Authors Affiliations

Abstract