Testicular Adrenal Rest Tumors: Current Insights on Prevalence, Characteristics, Origin, and Treatment

Engels, Manon; Span, Paul N.; Herwaarden, Antonius E. van; Sweep, Fred C.G.J.; Stikkelbroeck, Nike M. M. L.; Grinten, Hedi L Claahsen–van der

doi:10.1210/er.2018-00258

Cited by 111 publications

(162 citation statements)

References 95 publications

Supporting

Mentioning

156

Contrasting

Unclassified

Order By: Relevance

“…Reduced fertility is a recognised consequence of inadequately controlled 21-hydroxylase deficiency with TART formation but has not previously been documented in P450scc deficiency. It is likely that the fertility problems in our patient are related to TART with the impairment in sperm production, as indicated by the reduced Johnsen count, consistent with a toxic paracrine effect of the steroid hormones or metabolites produced by the adrenal rests as in 21-hydroxylase deficiency (32,33,38). A reduction in sperm count could also result from obstruction caused by the nodules and adrenal rest clumps compressing the rete testis and seminiferous tubules (32,33,38).…”

Section: Discussionmentioning

confidence: 71%

“…There is only one previous report of TART in two peripubertal male patients with CYP11A1 deficiency (25). The diagnosis in these two reported patients was made by ultrasound, which is the preferred method of detection (33), while there are both ultrasound and histological data in the case we describe.…”

Section: Discussionmentioning

confidence: 72%

“…TART is well described as a feature of poorly controlled 21-hydroxylase deficiency, the most common form of CAH (32,33). Of note, angiotensin II receptors are found in TART tissue, so that mineralocorticoid deficiency, in addition to glucocorticoid deficiency, may contribute to its development (33).…”

Section: Discussionmentioning

confidence: 99%

“…TART has also been described in conditions other than 21-hydroxylase deficiency, with reports of this complication in rarer forms of CAH such as 11-hydroxylase deficiency and 3β-hydroxysteroid dehydrogenase type 2 deficiency but not in autoimmune PAI (32,33).…”

Section: Discussionmentioning

confidence: 99%

See 3 more Smart Citations

Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis

Kallali

Gray²,

Mehdi

et al. 2020

European Journal of Endocrinology

View full text Add to dashboard Cite

Objective CYP11A1 mutations cause P450 side-chain cleavage (scc) deficiency, a rare form of congenital adrenal hyperplasia with a wide clinical spectrum. We detail the phenotype and evolution in a male sibship identified by HaloPlex targeted capture array. Family study The youngest of three brothers from a non-consanguineous Scottish family presented with hyperpigmentation at 3.7 years. Investigation showed grossly impaired glucocorticoid function with ACTH elevation, moderately impaired mineralocorticoid function, and normal external genitalia. The older brothers were found to be pigmented also, with glucocorticoid impairment but normal electrolytes. Linkage studies in 2002 showed that all three brothers had inherited the same critical regions of the maternal X chromosome suggesting an X-linked disorder, but analysis of NR0B1 (DAX-1, adrenal hypoplasia) and ABCD1 (adrenoleukodystrophy) were negative. In 2016, next-generation sequencing revealed compound heterozygosity for the rs6161 variant in CYP11A1 (c.940G>A, p.Glu314Lys), together with a severely disruptive frameshift mutation (c.790_802del, K264Lfs*5). The brothers were stable on hydrocortisone and fludrocortisone replacement, testicular volumes (15–20 mL), and serum testosterone levels (24.7, 33.3, and 27.2 nmol/L) were normal, but FSH (41.2 µ/L) was elevated in the proband. The latter had undergone left orchidectomy for suspected malignancy at the age of 25 years and was attending a fertility clinic for oligospermia. Initial histology was reported as showing nodular Leydig cell hyperplasia. However, histological review using CD56 staining confirmed testicular adrenal rest cell tumour (TART). Conclusion This kinship with partial P450scc deficiency demonstrates the importance of precise diagnosis in primary adrenal insufficiency to ensure appropriate counselling and management, particularly of TART.

show abstract

Section: Discussionmentioning

confidence: 71%

Section: Discussionmentioning

confidence: 72%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis

Kallali

Gray²,

Mehdi

et al. 2020

European Journal of Endocrinology

View full text Add to dashboard Cite

show abstract

“…forms: classic congenital lipoid adrenal hyperplasia due to mutations in the STAR gene, P450 side chain cleavage enzyme deficiency (P450scc deficiency) due to mutations in the CYP11A1 gene, 17α-hydroxylase deficiency, 3β hydroxysteroid dehydrogenase (-HSD) deficiency, and P450 oxidoreductase (POR) deficiency. Increased androgen production from the fetal adrenal resulting in 45,XX DSD occurs in classic 21-hydroxylase deficiency, 11β-hydroxylase deficiency, 3β-HSD deficiency, and POR deficiency (7). Syndromic diseases with PAI and undervirilization in males include the IMAGe syndrome and the MIRAGE syndrome (both discussed in more detail in the subsequent section).…”

mentioning

confidence: 99%

Beyond the adrenals: Organ manifestations in inherited primary adrenal insufficiency in children

Kamrath

2020

European Journal of Endocrinology

View full text Add to dashboard Cite

Primary adrenal insufficiency (PAI) in children is mostly due to genetic defects. The understanding of the molecular genetics of the causes of adrenal insufficiency in the pediatric population has made significant progress during the last years. It has been shown that inherited PAI can lead to certain clinical manifestations and health problems in children beyond the adrenals. Organ dysfunctions associated with different forms of PAI in children include a wide range of organs such as gonads, brain, heart, bone, growth, bone marrow, kidney, skin, parathyroid, and thyroid. Diagnosing the correct genetic cause of PAI in children is therefore crucial to adequately control long-term treatment and follow-up in such patients. Gonadal dysfunctionDeficient or reduced fetal testicular steroidogenesis results in phenotypically normal female genitalia or undervirilized male genitalia in patients with a 46,XY karyotype (46,XY disorder of sex development (DSD)) in the subsequent CAH

show abstract

Sexually transmitted doping: The impact of urine contamination of semen

Handelsman

Bacha

DeBono

et al. 2022

Drug Testing and Analysis

View full text Add to dashboard Cite

The high sensitivity of antidoping detection tests creates the possibility of inadvertent doping due to an athlete's unknowing ingestion of contaminated environmental sources such as dietary supplements, food, or drinks. Recently, athletes denying use of a prohibited substance have claimed that the positive antidoping tests was due to exchange of bodily fluids with a nonathlete partner using a prohibited substance.Measurement of drugs in semen is largely limited to one or very few samples due to the inaccessibility of sufficiently frequent semen samples for detailed pharmacokinetics. An emerging issue in semen drug measurements is that semen samples may contain residual urine from ejaculation left in the urethra; however, the urine content in semen samples has not been studied. In the present study, we employed concurrent creatinine measurements in urine and seminal plasma to determine the urine content of semen samples.

show abstract

Testicular Adrenal Rest Tumors: Current Insights on Prevalence, Characteristics, Origin, and Treatment

Cited by 111 publications

References 95 publications

Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis

Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis

Beyond the adrenals: Organ manifestations in inherited primary adrenal insufficiency in children

Sexually transmitted doping: The impact of urine contamination of semen

Contact Info

Product

Resources

About