Bilateral testicular enlargement due to adrenal remnant in a patient with C11 hydroxylase deficiency congenital adrenal hyperplasia

Ghazi, Ali A.; Hadayegh, F; Khakpour, G R; Azizi, F; Melby, James C.

doi:10.1007/bf03345128

Cited by 8 publications

(11 citation statements)

References 11 publications

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“…A Sertoli cell tumor was identified in a testis simultaneously affected by LCT; the patient, who also received RPLND, was disease-free 68 months later. Leydig cell hyperplasia [7] and tumors associated to congenital adrenal hyperplasia [8] were ruled out in the patient with bilateral synchronous tumor.…”

Section: Resultsmentioning

confidence: 99%

Lessons from 52 Patients with Leydig Cell Tumor of the Testis: The GUONE (North-Eastern Uro-Oncological Group, Italy) Experience

Tonno

Tavolini

Belmonte³

et al. 2009

Urol Int

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Introduction: The goal of the study was to define treatment rules for the uncommon, rarely (10%) malignant and chemorefractory Leydig cell tumors (LCT) of the testis. Methods: The main clinical data of patients treated in centers affiliated to the GUONE (North-Eastern Uro-Oncological Group, Italy) were reviewed. We considered 52 patients (54 tumors, 2 bilateral) whose ages ranged from 13 to 70 years (mean 36). Of the treatments performed, 52 were orchiectomies and 2 were enucleations (unfavorable pathology in only 2 tumors). There were 5 lymphadenectomies (retroperitoneal lymph node dissections): 2 for suspected stage II disease and 1 each for unfavorable pathology, bilateral disease and associated Sertoli tumor (pathology: pN0 in all cases). The length of follow-up ranged from 15 to 249 months (mean 81). Results: There was no relapse in 51 patients and 1 died as a result of metastatic disease (orchiectomy at the age of 70; unremarkable pathology). Conclusions: Malignant LCT seems to be, in our experience, less frequent than previously reported. Age and pathology are useful prognostic factors, but their predictive value should never be considered absolute. Enucleation seems justified in young patients with favorable pathology. In clinical stage I LCT, retroperitoneal lymph node dissection should be offered to older patients and/or to patients with unfavorable pathology. A prolonged follow-up is mandatory.

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Section: Resultsmentioning

confidence: 99%

Lessons from 52 Patients with Leydig Cell Tumor of the Testis: The GUONE (North-Eastern Uro-Oncological Group, Italy) Experience

Tonno

Tavolini

Belmonte³

et al. 2009

Urol Int

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“…11OHD patients with TART are rare. Up to our knowledge, only nine cases are presented in the literature so far (43,45,46,47,48). This is most likely due to the smaller incidence of CAH due to 11-hydroxylase deficiency.…”

Section: European Journal Of Endocrinologymentioning

confidence: 98%

Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency

Polat

Kulle

Karaca

et al. 2014

European Journal of Endocrinology

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Background: Congenital adrenal hyperplasia (CAH) is one of the most common autosomal recessive inherited endocrine diseases. Steroid 11b-hydroxylase (P450c11) deficiency (11OHD) is the second most common form of CAH. Aim: The aim of the study was to study the functional consequences of three novel CYP11B1 gene mutations (p.His125Thrfs*8, p.Leu463_Leu464dup and p.Ser150Leu) detected in patients suffering from 11OHD and to correlate this data with the clinical phenotype. Methods: Functional analyses were done by using a HEK293 cell in vitro expression system comparing WT with mutant P450c11 activity. Mutant proteins were examined in silico to study their effect on the three-dimensional structure of the protein.Results: Two mutations (p.His125Thrfs*8 and p.Leu463_Leu464dup) detected in patients with classic 11OHD showed a complete loss of P450c11 activity. The mutation (p.Ser150Leu) detected in a patient with non-classic 11OHD showed partial functional impairment with 19% of WT activity. Conclusion: Functional mutation analysis enables the correlation of novel CYP11B1 mutations to the classic and non-classic 11OHD phenotype respectively. Mutations causing a non-classic phenotype show typically partial impairment due to reduced maximum reaction velocity comparable with non-classic mutations in 21-hydroxylase deficiency. The increasing number of mutations associated with non-classic 11OHD illustrate that this disease should be considered as diagnosis in patients with otherwise unexplained hyperandrogenism.

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“…Testicular adrenal remnants in CYP11B1 deficiency are rare; such patients present with virilization, HTN, and bilateral testicular enlargement [27]. Testicular ultrasound is vital to the diagnosis [27]. Suppressing ACTH with glucocorticoid replacement might control hyperpigmentation, lower blood pressure, and reduce testicular size [27].…”

Section: Congenital Adrenal Hyperplasiamentioning

confidence: 99%

“…Testicular ultrasound is vital to the diagnosis [27]. Suppressing ACTH with glucocorticoid replacement might control hyperpigmentation, lower blood pressure, and reduce testicular size [27]. Maintaining control of HTN might require addition of spironolactone or amiloride [22,24].…”

Section: Congenital Adrenal Hyperplasiamentioning

confidence: 99%

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Adrenocortical hypertension

Capricchione

Winer

Sowers

2004

Current Science Inc

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Primary aldosteronism, congenital adrenal hyperplasia, Cushing's syndrome, glucocorticoid-remediable aldosteronism, and corticotropin-dependent forms of adrenal pathology can cause hypertension by excessive production of adrenocortical hormones. Although traditional biochemical assays continue to be used, genetic testing has simplified the diagnosis of glucocorticoid-remediable aldosteronism. Also, new interventional radiologic approaches for the diagnosis and treatment of corticotropin-dependent forms of Cushing's syndrome are available. Medical and surgical approaches, however, still remain viable options for treatment.

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Bilateral testicular enlargement due to adrenal remnant in a patient with C11 hydroxylase deficiency congenital adrenal hyperplasia

Cited by 8 publications

References 11 publications

Lessons from 52 Patients with Leydig Cell Tumor of the Testis: The GUONE (North-Eastern Uro-Oncological Group, Italy) Experience

Lessons from 52 Patients with Leydig Cell Tumor of the Testis: The GUONE (North-Eastern Uro-Oncological Group, Italy) Experience

Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency

Adrenocortical hypertension

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