Leydig Cell Tumors and Tumors Associated With Congenital Adrenal Hyperplasia

Rich, Mark A.; Keating, Michael A.

doi:10.1016/s0094-0143(05)70099-9

Cited by 88 publications

(98 citation statements)

References 49 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The TARTs usually exist bilaterally, which is different from the other malignancies of the testis [26]. The laterality is not observed in the testicular cancer, such as seminoma, Sertoli cell tumor, and Leydig cell tumor [27,28].…”

Section: Discussionmentioning

confidence: 99%

The prevalence of testicular adrenal rest tumors and associated factors in postpubertal patients with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency

et al. 2011

View full text Add to dashboard Cite

Section: Discussionmentioning

confidence: 99%

The prevalence of testicular adrenal rest tumors and associated factors in postpubertal patients with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency

et al. 2011

View full text Add to dashboard Cite

“…Because small testicular masses may not be palpable, all boys with precocious puberty and an absent family history of precocious puberty should undergo testicular ultrasonography. It is also important to accurately differentiate conditions that will respond to medical management (like Leydig cell hyperplasia due to congenital adrenal hyperplasia) from Leydig cell tumors which require definitive surgical therapy [4].…”

Section: Discussionmentioning

confidence: 99%

Precocious Puberty in a Three Year Old Boy: A Hormone Secreting Testicular Tumor Should be High in Differential Diagnosis

Bhandarkar¹,

Kittur²,

Patil³

et al. 2017

JCR

View full text Add to dashboard Cite

Background: Etiologies of iso-sexual precocious puberty are numerous. Among common causes for precocious puberty, hormone secreting testicular tumors are important. Leydig cell tumor is a sex cord stromal tumor of the testis. This usually presents with precocious puberty in pre-adolescent boys. Case Report: Our patient is a three year old boy who presented to his pediatrician with one year history of iso-sexual precocious puberty. Later, a right testicular mass was detected. He underwent an inguinal orchidectomy. Conclusion: Hormone secreting testicular tumors should be always be high in differential diagnosis in boys who present with precocious puberty and testicular enlargement.

show abstract

“…Therefore, the findings in 11OHD may be a collection bias. In the patient, the TART located in the right testis was removed because of its size and the difficulty to distinguish it from a Leydig cell tumour during follow-up (51). TART cells showed eosinophilic cytoplasm with neither lipochrome pigments nor Reinke crystalloids ( Fig.…”

Section: European Journal Of Endocrinologymentioning

confidence: 99%

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

Polat

Kulle

Karaca

et al. 2014

European Journal of Endocrinology

View full text Add to dashboard Cite

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.

show abstract

Leydig Cell Tumors and Tumors Associated With Congenital Adrenal Hyperplasia

Cited by 88 publications

References 49 publications

The prevalence of testicular adrenal rest tumors and associated factors in postpubertal patients with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency

The prevalence of testicular adrenal rest tumors and associated factors in postpubertal patients with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency

Precocious Puberty in a Three Year Old Boy: A Hormone Secreting Testicular Tumor Should be High in Differential Diagnosis

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

Contact Info

Product

Resources

About