Bilateral testicular adrenal rest tissue in congenital adrenal hyperplasia: US and MR features.

Proto G, Di Donna A, Grimaldi F, Mazzolini A, Purinan A, Bertolissi F.

Endocrine Unit, Azienda Ospedaliera S. Maria della Misericordia, Udine, Italy. gbproto@libero.it

We describe magnetic resonance (MR) and ultrasonography (US) features of bilateral testicular adrenal rest tissue in a 20-yr-old man with congenital adrenal hyperplasia (CAH). Scrotal ultrasonology detected bilateral homogeneous hypoechoic lesions with well-defined margins and without evidence of sound attenuation. MR is useful in defining the size of lesions, because the contrast resolution is better than with sonography and allows an accurate definition of the extent of disease. This case suggests that US evaluation should be included in periodical follow-up of patients with CAH, while MR may be used in the case of rapid increase in the size of the testicular mass.

PMID: 11508788 [PubMed - indexed for MEDLINE]

Nonfunctioning adrenal rest tumor of the liver: radiologic appearance.

Tajima T, Funakoshi A, Ikeda Y, Hachitanda Y, Yamaguchi M, Yokota M, Yabuuchi H, Satoh T, Koga M.

Department of Radiology, National Kyushu Cancer Center, Fukuoka, Japan. ttajima@nk-cc.go.jp

We describe the radiologic features of an adrenal rest tumor of the liver. The adrenal rest tumor appeared on ultrasound as a round, well defined, heterogeneous, solid mass in the posterior aspect of the liver, on angiography as a homogeneous hypervascular mass, and on dynamic CT as a mass containing components of both fat density and soft tissue density and showing early fill-in and early fill-out. Adrenal rest tumors should be included in the lists of hypervascular or fat-containing masses in the liver.

PMID: 11176302 [PubMed - indexed for MEDLINE]

Testicular adrenal rest tissue in congenital adrenal hyperplasia: comparison of MR imaging and sonographic findings.

Avila NA, Premkumar A, Merke DP.

Department of Diagnostic Radiology, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD 20892-1182, USA.

OBJECTIVE: The purpose of our study was to describe the MR features of testicular adrenal rest tissue in patients with congenital adrenal hyperplasia and to compare the usefulness of MR imaging with that of sonography for the detection of testicular adrenal rest tissue. SUBJECTS AND METHODS: Nineteen patients with congenital adrenal hyperplasia underwent MR imaging and gray-scale and color Doppler sonography of the testicles during the same visit to our institution. Findings were compared. RESULTS: MR features of testicular adrenal rest tissue included the following: isointensity (71% of the masses) and slight hyperintensity (29% of the masses) relative to normal testicular tissue on T1-weighted images; hypointensity relative to normal testicular tissue on T2-weighted images (100% of the masses); and diffuse enhancement on contrast-enhanced T1-weighted images (85% of the masses). MR imaging and sonography revealed the testicular lesions equally well. Eleven (58%) of 19 patients had normal findings on MR imaging and sonography. Eight (42%) of 19 patients had 14 intratesticular masses detected by both imaging techniques. CONCLUSION: MR imaging and sonography are equally useful in the detection of testicular adrenal rest tissue. Because sonography is more accessible to most institutions and is less expensive, it is the imaging technique of choice for the detection of testicular adrenal rest tissue.

PMID: 10587136 [PubMed - indexed for MEDLINE]

Testicular adrenal rest tissue in congenital adrenal hyperplasia: serial sonographic and clinical findings.

Avila NA, Shawker TS, Jones JV, Cutler GB Jr, Merke DP.

Diagnostic Radiology Department, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD 20892-1182, USA.

OBJECTIVE: The purpose of this study was to describe the serial sonographic findings and clinical and laboratory data obtained during follow-up of patients with congenital adrenal hyperplasia in whom testicular adrenal rest tissue develops. MATERIALS AND METHODS: We retrospectively reviewed testicular sonography and laboratory data for 12 patients with congenital adrenal hyperplasia who also had intratesticular masses consistent with adrenal rest tissue. The studies were done during follow-up that ranged from 7 months to 10 years. RESULTS: During follow-up of 11 of the 12 patients after the initial sonographic diagnosis, the testicular adrenal rest tissue either remained stable in size (n = 1), grew larger or smaller (n = 9), disappeared (n = 4), or reappeared after disappearing (n = 3). In one patient, the testicular adrenal rest tissue grew very rapidly in a 1-month interval. Discordant changes in the testicular adrenal rest tissue were noted in 10 patients with bilateral masses. We found no relationship between the change in size of the masses and clinical control (based on 17-hydroxyprogesterone level) at the time of sonography. CONCLUSION: In patients with congenital adrenal hyperplasia who have testicular masses detected sonographically, testicular adrenal rest tissue is the most likely diagnosis. Testicular adrenal rest tissue may remain stable in size, grow larger or smaller, or disappear during sonographic follow-up. The change in size may be marked, may occur very rapidly, and, in our study cohort, was not related to short-term clinical control based on 17-hydroxyprogesterone level at the time of sonography.

PMID: 10227495 [PubMed - indexed for MEDLINE]

Testicular adrenal rest tissue in congenital adrenal hyperplasia: findings at Gray-scale and color Doppler US.

Avila NA, Premkumar A, Shawker TH, Jones JV, Laue L, Cutler GB Jr.

Department of Diagnostic Radiology, Henry M. Jackson Foundation, National Institutes of Health, Bethesda, MD 20892, USA.

PURPOSE: To study the ultrasound (US) features of scrotal adrenal rest tissue in congenital adrenal hyperplasia (CAH). MATERIALS AND METHODS: Gray-scale and color Doppler US examinations were performed of scrotal masses in eight patients. The masses were evaluated for size, location, echogenicity, sound attenuation, and vascularity. RESULTS: Seventeen intratesticular masses and one extratesticular mass were examined. All were hypoechoic except for one intratesticular mass that contained hyperechoic areas. Six masses demonstrated sound attenuation. The mediastinum testis was found in the center of 11 of the 17 intratesticular masses. At color Doppler US, six masses were hypervascular, seven were isovascular, and five were hypovascular relative to the normal testicle. All intratesticular masses contained vascular structures that entered them from the normal testis without change in course or caliber. Eleven masses showed a spoke-like pattern of converging vessels. CONCLUSION: The US features of scrotal adrenal rests assist diagnosis of CAH.

PMID: 8539414 [PubMed - indexed for MEDLINE]

Hyperandrogenism due to 3 beta-hydroxysteroid dehydrogenase deficiency with accessory adrenocortical tissue: a hormonal and metabolic evaluation.

Paula FJ, Dick-de-Paula I, Pontes A, Schmitt FC, Mendonca BB, Foss MC.

Departamento de Clinica Medica, Faculdade de Medicina de Botucatu, Universidade Estadual Paulista, SP, Brasil.

1. Adrenal ectopic tissue has been detected in the paragonadal region of normal women. In patients with congenital adrenal hyperplasia due to 21-hydroxylase (21-OH) deficiency, the manifestation of hyperplasia of paragonadal accessory adrenal tissue has been usually reported to occur in males. Probably, this is the first report of a female with 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency with ectopic adrenal tissue in ovaries. However, the occurrence of hyperplasia of adrenal rests among women with classical congenital adrenal hyperplasia may not be rare, especially among patients with a late diagnosis. 2. We report a woman with 3 beta-HSD deficiency whose definitive diagnosis was made late at 41 years of age immediately before surgery for the removal of a uterine myoma. During surgery, exploration of the abdominal cavity revealed the presence of bilateral accessory adrenal tissue in the ovaries and in the para-aortic region. The patient had extremely high levels of ACTH (137 pmol/l), DHEA (901.0 nmol/l), DHEA-S (55.9 mumol/l), androstenedione (70.2 nmol/l), testosterone (23.0 nmol/l) and 17 alpha-hydroxypregnenolone (234.4 nmol/l) suggesting 3 beta-HSD deficiency. 3. In view of these elevated androgen levels, with an absolute predominance of DHEA and DHEA-S, we evaluated the effect of this hormonal profile on carbohydrate tolerance and insulin response to glucose ingestion. 4. The patient presented normal glucose tolerance but her insulin response was lower than that of 14 normal women (area under the curve, 3 beta-HSD = 17,680 vs 50,034 pmol/l for the control group over a period of 3 h after glucose ingestion).(ABSTRACT TRUNCATED AT 250 WORDS)

PMID: 8000336 [PubMed - indexed for MEDLINE]

Congenital adrenal hyperplasia with testicular tumors, aggression, and gonadal failure.

Keely EJ, Matwijiw I, Thliveris JA, Faiman C.

Department of Medicine, University of Manitoba, Winnipeg, Canada.

Bilateral testicular tumors (adrenal rests) may occur in untreated or poorly controlled congenital adrenal hyperplasia. This case report describes two unique associated phenomena: (1) psychologic disturbances similar to those seen with exogenous androgen abuse, which resolved with appropriate glucocorticoid suppression of androgen over-production by this abnormal adrenal/adrenal rest tissue; and (2) testicular failure which showed a partial, delayed recovery with corticosteroid therapy. The need for a careful history and biochemical screening for all patients with bilateral testicular tumors is reinforced.

PMID: 8470321 [PubMed - indexed for MEDLINE]

Bilateral testicular adrenal rests in a patient with 11-hydroxylase deficient congenital adrenal hyperplasia.

Oberman AS, Flatau E, Lubo[expletive deleted]zky R.

Department of Internal Medicine B, Central Emek Hospital, Afula, Israel.

A 13-year-old boy was referred for investigation of hypertension, precocious puberty and giant testicles. Hormonal studies established the diagnosis of congenital adrenal hyperplasia due to 11-hydroxylase deficiency. Testicular biopsy revealed that the scrotal masses were adrenal rest tumors entirely composed of adrenocortical tissue. Primary testicular tissue was absent. The size of the tumors regressed following replacement steroid therapy together with restoration of normal blood pressure. This observation of a testicular adrenal rest tumor in a patient with 11-hydroxylase deficient congenital adrenal hyperplasia is unique.

PMID: 8426416 [PubMed - indexed for MEDLINE]

Steroidogenic enzyme activities, morphology, and receptor studies of a testicular adrenal rest in a patient with congenital adrenal hyperplasia.

Clark RV, Albertson BD, Munabi A, Cassorla F, Aguilera G, Warren DW, Sherins RJ, Loriaux DL.

Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892.

Steroid-secreting tumors of the testis have generally been considered to be of Leydig cell origin. Testicular tumors in patients with congenital adrenal hyperplasia have been thought to be adrenal rests, but no conclusive evidence supporting the hypothesis has been presented. We report a morphological and biochemical analysis of a patient with 21-hydroxylase deficiency who developed bilateral nodular hyperplasia of steroid-secreting tissue within the testis, despite suppression therapy with both exogenous glucocorticoids and testosterone. The tissue was formed of confluent nodules of homogenous cells. Electron microscopy showed the cells to have abundant smooth endoplasmic reticulum, well developed Golgi apparatus, and mitochondria with predominantly tubular cristae, features characteristic of steroid-secreting cells of adrenocortical origin. Crystals of Reinke were not observed. Functional studies in vivo showed a marked response to ACTH infusion, with 17-hydroxyprogesterone rising from 56 to 13,500 ng/mL, cortisol from less than 2 to 19 micrograms/dL, and testosterone from 369 to 629 ng/dL, with an attendant increase in testicular size and pain over 48 h. Receptor studies in vitro revealed no gonadotropin receptors, but abundant angiotensin-II receptors. Enzyme activity analysis in vitro showed undetectable 21-hydroxylase activity and an enzyme profile consistent with adrenocortical cells rather than Leydig cells. Based on these morphological and biochemical findings, we conclude that the nodular steroidogenic tissue that replaced this patient’s testes was of adrenal origin. The study documents for the first time the development of adrenocortical tumors from adrenal rest tissue within the testis.

PMID: 2335578 [PubMed - indexed for MEDLINE]

Primary testicular abnormalities causing precocious puberty Leydig cell tumor, Leydig cell hyperplasia, and adrenal rest tumor.

Wilson BE, Netzloff ML.

The child with testicular enlargement in the absence of gonadotrophin stimulation presents a difficult diagnostic dilemma. Leydig cell tumors, Leydig cell hyperplasia, and tumors of adrenal rest tissue are the primary etiologic considerations. Because of considerable overlap in clinical presentation, careful biochemical and histologic evaluations are necessary to make the diagnosis. These should include serum levels of testosterone, dehydroepiandosterone, androstenedione, 17-hydroxyprogesterone, and 11-desoxycortisol, as well as urinary levels of 17-ketosteroids. If diagnostic changes in the biochemical profile are not present, then testicular biopsy is indicated. Encapsulation, presence or absence of the crystalloids of Reinke, degree of seminiferous tubule maturation, and the site of any abnormal tissue are important observations in the examination of the tissue specimen. Once the diagnosis has been established, then appropriate and specific medical or surgical therapy can be instituted. With appropriate treatment, the long-term prognosis in each condition is good.

PMID: 6226233 [PubMed - indexed for MEDLINE]

Histogenesis of the broad ligament adrenal rest.

Adashi EY, Rosenshein NB, Parmley TH, Woodruff JD.

Broad ligament adrenal rests are well known. A case of adrenal rest external to the surface of the broad ligament and adjacent to the fallopian tube is reviewed, with specific emphasis on its histogenesis. The rest is associated with a foreign body, and it is suggested that it has arisen as a secondary development of celomic epithelial metaplasia.

PMID: 6108244 [PubMed - indexed for MEDLINE]

The diagnosis of Leydig cell tumors in childhood.

Urban MD, Lee PA, Plotnick LP, Migeon CJ.

We report the clinical and hormonal findings in two boys with isosexual precocity secondary to Levdig cell tumor of the testis. The hormonal profile at the initial evaluation was quite different in the two cases suggesting differences in steroid biosynthesis by the tumors. These differences indicate that a dexamethasone suppression test may be required to differentiate between Leydig cell tumors and congenital virilizing adrenal hyperplasia with adrenal rest tissue located within the testes.

PMID: 645676 [PubMed - indexed for MEDLINE]

Testis tumors associated with congenital adrenal hyperplasia: a continuing diagnostic and therapeutic dilemma.

Newell ME, Lippe BM, Ehrlich RM.

A 9-year-old boy with documented congenital adrenal hyperplasia owing to a deficiency in C21 hydroxylation is described. Precocious virilization and testicular asymmetry were noted when he was 5 years old. Both of these conditions persisted despite progressively larger doses of replacement steroid therapy. The right testis was 3 times larger than the left testis and serum testosterone was well within the adult male range. A right inguinal orchiectomy was performed. Pathologic diagnosis was interstitial cell tumor. A review of the literature emphasizes the continuing dilemma of separating interstitial cell tumors from hypertrophy of adrenal rest tissue in the presence of congenital adrenal hyperplasia. Possible methods of distinction are discussed.

PMID: 833986 [PubMed - indexed for MEDLINE]