Ovarian adrenal rest tumor in congenital adrenal hyperplasia: Is medical treatment the first line option?

SUMMARY Ovarian adrenal rest tumors (OARTs) are very rare. We describe a case of a young woman with uncontrolled classical congenital adrenal hyperplasia (CCAH), presenting with bilateral OARTs, successfully treated with steroid replacement. A 20-year-old woman, known to have 21OH-CCAH, presented with severe abdominal pain, vomiting, diarrhea, and fever. As a result of poor compliance, 6 months before her admission hirsutism worsened and amenorrhea, hyperpigmentation, and weakness developed. ACTH levels were 278 < pmol/L and 17OHP 91.3 nmol/L. She was admitted for parenteral antibiotics and high-dose hydrocortisone treatment. CT revealed bilateral juxta-ovarian masses (6.2 x 3.6 x 7.4 cm left and 5 x 2.2 x 3.2 cm right) that on MRI were iso-intense in T1 and hypointense in T2, with early enhancement and rapid washout. One week of high-dose hydrocortisone resulted in significant clinical and laboratory improvement and the patient was discharged with 2 mg dexamethasone/day. One month later US revealed shrinkage of the masses and dexamethasone dose was decreased. At three months from discharge, she has resumed regular menses, and a repeated MRI revealed the para-ovarian masses have shrunk. One year after the diagnosis, the para-ovarian masses have shrunk more to 2.8 x 1.9 x 4.3 on the left and 2.1 x 0.9 x 1.2 on the right with less contrast enhancement in comparison to previous test possibly due to fibrotic changes of the tissue. OARTs are rare tumors with a poorly known natural history, and surgery has been the first option in the few reported cases. We demonstrate that medical treatment is a good alternative, leading to significant tumor shrinkage over a short period.

Resección laparoscópica de mielolipoma suprarrenal gigante / Laparoscopic resection of giant adrenal myelolipoma

Los mielolipomas suprarrenales son neoplasias suprarrenales benignas compuestas como su nombre lo indica, por tejido adiposo y tejido hematopoyético. Comprenden entre 6 - 16% de los incidentalomas suprarrenales, El tamaño de estos tumores es variable, desde unos pocos milímetros hasta > 10 cm, es entonces cuando se denominan adrenomielolipomas gigantes. Los síntomas de presentación más comunes son: Dolor abdominal: 22,5%, dolor en hipocondrio: 13,9%, dolor en el flanco: 13,9%, masa abdominal: 5,2%, y en raras ocasiones, disnea, dolor en espalda, fiebre, pérdida de peso y virilización. Presentación del caso: paciente masculino de 61 años de edad, con presencia de tumor de 15 x 12 cm, dependiente de glándula suprarrenal derecha, que comprime polo superior de riñón derecho, de -20 UH, compatible con mielolipoma suprarrenal derecho gigante, hallazgos incidentales, durante protocolo de estudio por crecimiento prostático, se realiza procedimiento de resección de tumor suprarrenal por abordaje laparoscópico, con excelentes resultados clínicos, sangrado mínimo y recuperación inmediata. Conclusión: el mielolipoma suprarrenal es un tumor benigno que se diagnostica en la mayoría de los casos de manera incidental, se sabe que clínicamente es no funcional, aunque siempre se deben de hacer estudios hormonales preoperatorios. El tratamiento de los mielolipomas suprarrenales, depende de cada caso clínico, siendo una recomendación el tratamiento quirúrgico de los tumores grandes >5 cm, sugerimos que se pueda optar por el abordaje laparoscópico, por ser el menos invasivo y con menor tasa de complicaciones, además de la recuperación pronta del paciente.

Adrenal myelolipomas are benign adrenal neoplasms composed, as the name implies, of adipose tissue and myeloid (hematopoietic) tissue. They comprise between 6 and 16% of adrenal incidentalomas. The size of these tumors is variable and can vary from a few millimeters to more than 10 cm when they are called giant adrenomyelolipomas. The most common clinical presenting symptoms of adrenal myelolipomas are as follows: Abdominal pain: 22.5%, hypochondrial pain: 13.9%, flank pain: 13.9%, abdominal mass: 5.2%, and rarely, dyspnea, back pain, fever, weight loss and virilization. Presentation of the case: 61-year-old male, with the presence of a 15 x 12 cm tumor, dependent on the right adrenal gland, compressing the upper pole of the right kidney, -20 HU, compatible with giant right adrenal myelolipoma, incidental findings, during study protocol due to prostatic growth, a laparoscopic adrenal tumor resection procedure is performed, with excellent clinical results, minimal bleeding and immediate recovery. Conclusion: adrenal myelolipoma is a benign tumor that is diagnosed incidentally in most cases, it is known to be non-functional clinically, although preoperative hormonal studies should always be done. The treatment of adrenal myelolipomas depends on each clinical case, being a recommendation the surgical treatment of large tumors> 5 cm, we suggest that the laparoscopic approach be chosen, as it is the least invasive and with the lowest rate of complications, in addition of the prompt recovery of the patient.

An Intrarenal Adrenocortical Carcinoma Arising in an Adrenal Rest

We describe a case of a 61-year-old Korean man who was diagnosed with renal cell carcinoma that was discovered on abdominopelvic computed tomography obtained after the patient complained of back pain. A radical nephrectomy was performed, and the surgical specimen showed a relatively well-circumscribed and yellowish lobulated hard mass. Microscopically, the tumor showed sheets and nests of hypercellular pleomorphic cells with thick fibrous septation, frequent mitoses, and areas of adrenal cortical-like tissue. Immunohistochemical staining revealed that the tumor cells were positive for inhibin-α, vimentin, synaptophysin, and melan A. It also revealed that the tumor cells were negative for pan-cytokeratin, epithelial membrane antigen, paired box 8, α-methylacyl-coenzyme A racemase, CD10, cytokeratin 7, carbonic anhydrase 9, c-Kit, renal cell carcinoma, transcription factor E3, human melanoma black 45, desmin, smooth muscle actin, S-100, chromogranin A, CD34, anaplastic lymphoma kinase, and integrase interactor 1. Based on these histopathological and immunohistochemical findings, we diagnosed the tumor as intrarenal adrenocortical carcinoma arising in an adrenal rest. Several cases of intrarenal adrenocortical carcinoma have been reported, although they are very rare. Due to its poor prognosis and common recurrence or metastasis, clinicians and pathologists must be aware of this entity.

Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care / 소아과

Steroid 21-hydroxylase deficiency is the most prevalent form of congenital adrenal hyperplasia (CAH), accounting for approximately 95% of cases. With the advent of newborn screening and hormone replacement therapy, most children with CAH survive into adulthood. Adolescents and adults with CAH experience a number of complications, including short stature, obesity, infertility, tumor, osteoporosis, and reduced quality of life. Transition from pediatric to adult care and management of long-term complications are challenging for both patients and health-care providers. Psychosocial issues frequently affect adherence to glucocorticoid treatment. Therefore, the safe transition of adolescents to adult care requires regular follow-up of patients by a multidisciplinary team including pediatric and adult endocrinologists. The major goals for management of adults with 21-hydroxylase deficiency are to minimize the long-term complications of glucocorticoid therapy, reduce hyperandrogenism, prevent adrenal or testicular adrenal rest tumors, maintain fertility, and improve quality of life. Optimized medical or surgical treatment strategies should be developed through coordinated care, both during transition periods and throughout patients' lifetimes. This review will summarize current knowledge on the management of adults with CAH, and suggested appropriate approaches to the transition from pediatric to adult care.

Clinical manifestations of testicular adrenal rest tumor in males with congenital adrenal hyperplasia

PURPOSE: In male patients with congenital adrenal hyperplasia (CAH), the presence of testicular adrenal rest tumors (TARTs) have been reported, however their prevalence and clinical manifestations are not well known. Untreated TARTs may lead to testicular structural damage and infertility. This study was conducted to investigate the prevalence of TARTs in male patients with CAH, and characterize the manifestations to identify contributing factors to TART. METHODS: Among 102 CAH patients aged 0-30 years, 24 male patients have been regularly followed up in our outpatient clinic at Severance Children's Hospital from January 2000 to December 2014. In order to reveiw the characteristics of TART patients, we calculated the mean levels of hormones during the 5 years before the time of investigation. Five patients underwent follow-up scrotal ultrasonography (US) after adjusting the dosage of glucocorticoids. RESULTS: TARTs were detected in 8 of the 13 patients (61.5%). The median age of TARTs diagnosis was 20.2 years with the youngest case being 15.5 years old. The mean serum level of adrenocorticotropic hormone (ACTH) was higher in the TARTs patient group compared to the non-TARTs group (P<0.05). The tumor size decreased in 3 cases, slightly increased in 1 case, and had no change in another case. CONCLUSION: The serum ACTH level might be associated with the growth promoting factor for TARTs, but the exact mechanism has not been clearly identified. Screening for TARTs using US is important in male patients with CAH for early-detection and prevention of ongoing complications, such as infertility.

Testicular Adrenal Rest Tumor in 11-Beta-Hydroxylase Deficiency Driven Congenital Adrenal Hyperplasia

Testicular adrenal rest tumors (TART) occur often as asymptomatic nodules in corticotropin-dependent lesions aberrant adrenal tissue in congenital adrenal hyperplasia (CAH) patients. The present manuscript is about an unusual case of a 16-year-old CAH patient due to 11beta-hydroxylase deficiency. He underwent testicle biopsy because of testicle tumor suspicion and diagnosed with TART.

Testicular adrenal rest tumor in infertile man with congenital adrenal hyperplasia: case report and literature review / Tumor testicular de remanescente adrenal em homem infértil com hiperplasia adrenal congênita: relato de caso e revisão de literatura

CONTEXT: Synthesis of cortisol and aldosterone is impaired in patients with congenital adrenal hyperplasia (CAH) because of 21-hydroxylase deficiency. Men with CAH have low fertility rates compared with the normal population, and this is related to testicular adrenal rest tumors. Findings of azoospermia in combination with a testicular tumor on ultrasound are likely to have a mechanical cause, especially when in the testicular mediastinum. The preferred treatment method consists of intensive corticoid therapy. However, when the tumor is unresponsive to steroid therapy, surgical treatment should be considered. CASE REPORT: We present the case of a male patient with CAH due to 21-hydroxylase deficiency who presented a testicular tumor and azoospermia. Treatment with low daily corticoid doses had previously been started by an endocrinologist, but after 12 months, no significant change in sperm count was found. Although the adrenocorticotrophic hormone and 17-hydroxyprogesterone levels returned to normal values, the follicle-stimulating hormone (FSH), luteinizing hormone and testosterone levels remained unchanged. Ultrasound examination confirmed that the testicles were small and heterogenous bilaterally, and revealed a mosaic area at the projection of the testis network bilaterally. Magnetic resonance imaging confirmed the finding. Testicular biopsy revealed the presence of preserved spermatogenesis and spermiogenesis in 20 percent of the seminiferous tubules in the right testicle. The patient underwent testis-sparing tumor resection. After 12 months of follow-up, there was no tumor recurrence but the patient still presented azoospermia and joined an intracytoplasmic sperm injection program.

CONTEXTO: Pacientes com hiperplasia adrenal congênita (HAC) por deficiência da 21-hidroxilase podem ter a síntese de cortisol e de aldosterona prejudicada. Homens com HAC têm baixas taxas de fertilidade em comparação com a população normal, e isso está relacionado a tumores testiculares de remanescente adrenal. A associação de azoospermia e tumor testicular sugere uma causa mecânica, principalmente quando o tumor é encontrado no mediastino testicular. O método preferencial de tratamento consiste na corticoterapia intensa. No entanto, quando o tumor não é responsivo à terapia com esteroides, o tratamento cirúrgico deve ser considerado. RELATO DE CASO: Apresentamos o caso de um paciente do sexo masculino com HAC por deficiência da 21-hidroxilase, portador de tumor testicular e azoospermia. Em consulta prévia com endocrinologista, o paciente começou tratamento com baixas doses diárias de corticoide, porém, após 12 meses de tratamento, não houve mudança significativa no espermograma. Embora os níveis de hormônio adrenocortitrófico e 17-hidroxiprogesterona tenham se normalizado, os níveis séricos de hormônio folículo-estimulante, hormônio luteinizante e testosterona não se alteraram. Exame ultrassonográfico confirmou testículos bilateralmente diminuídos e heterogêneos, além de área em mosaico na projeção da rede testis bilateralmente. Ressonância nuclear magnética confirmou o achado. Biópsia testicular revelou espermatogênese e espermiogênese preservadas em 20 por cento dos túbulos seminíferos no testículo direito. O paciente foi submetido a cirurgia poupadora testicular, com ressecção tumoral. Após 12 meses de acompanhamento, não houve recorrência tumoral, mas o paciente ainda apresentava azoospermia, sendo integrado no programa de injeção intracitoplasmática de espermatozoides.

Testicular adrenal rest tumors in a patient with untreated congenital adrenal hyperplasia / 소아과

Testicular adrenal rest tumors (TARTs) are considered to be formed from aberrant adrenal tissue that has become hyperplastic because of elevated adrenocorticotropic hormone (ACTH) in male patients with congenital adrenal hyperplasia (CAH). A 6-year-old boy presented with testicular enlargement and pubic hair. He was diagnosed with CAH complicated by precocious puberty. However, he was not followed-up. At the age of 17, he visited the outpatient clinic because of testicular enlargement and short stature. His right and left testicles were 10x6 cm and 7.5x4.5 cm, respectively. His height was 155.1 cm (standard deviation score [SDS], -2.90). The diagnosis of CAH due to 21 hydroxylase deficiency was confirmed by mutation analysis of CYP21A2. Histological examination of the testes showed large, polygonal, eosinophilic cells with round nuclei and prominent nucleoli, which were suggestive of TARTs. He was treated with dexamethasone for 3 weeks and tumors regressed. Subsequently, dexamethasone was replaced by prednisolone and 9alpha-fludrocortisone; thereafter, the reduced testis size has been maintained.

Congenital adrenal hyperplasia complicated by testicular adrenal rest tumors: one-case clinical analysis / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate the early diagnosis and treatment of congenital adrenal hyperplasia (CAH) complicated by testicular adrenal rest tumors (TART).</p><p><b>METHODS</b>We retrospectively analyzed the clinical data of 1 case of late-onset CAH complicated by TART diagnosed and treated in Xiamen Women and Children Health Care Hospital.</p><p><b>RESULTS</b>The patient was a 15 years old boy, short statured and dark skinned, with skin pigmentation in the gum and external genital, secondary sex characteristics of the adult and irregular tubercles palpable in the bilateral testes. Laboratory examinations showed obviously increased levels of ACTH, 17-KS, DHEA-S and progesterone and evidently decreased levels of FSH, LH and CO. The low-dose dexamethasone suppression test reduced ACTH and DHEA-S to normal. Imaging examinations revealed soft tissue density in the bilateral adrenal glands, especially on the right, and irregularly increased volume of the bilateral testes, particularly on the left, with heterogeneous signals and septas and surrounded by the fluid signals. Histopathological examinations showed the eosinophilic cytoplasm to be polygon- or round-shaped, interstitium-like cells arranged in line, and lipopigment in the endochylema. Immunohistochemical results were negative for testicular interstitial cell tumor. The clinical signs of the patient were improved after 3 months of dexamethasone treatment, the hyperplastic nodules in the left testis decreased obviously and those in the right testis disappeared after 6 months, and the hyperplastic nodules in the adrenal glands vanished after 9 months.</p><p><b>CONCLUSION</b>Based on the clinical manifestations and the results of auxiliary examinations, this case was diagnosed as late-onset CAH complicated by TART, which was attributed to the continued surge of ACTH induced by corticoadrenal insufficiency. Sufficient dexamethasone treatment could make the TART decrease or disappear and the CAH vanish; it could also improve the clinical symptoms and bring the laboratory results to normal.</p>

Hepatic adrenal rest tumor mimicking hepatocellular carcinoma / 대한간학회지

No abstract available.

Tumores testiculares bilaterais por hiperplasia congênita de restos adrenais / Bilateral testicular tumors caused by congenital adrenal rest hyperplasia

OBJETIVOS: Tumores testiculares são uma rara condição associada à hiperplasia adrenal congênita (HAC) que decorrem da hiperplasia de restos adrenais intratesticulares (HRA), raramente ocorrendo associados a neoplasias malignas. Sua diferenciação histológica com tumores de células de Leydig é muito difícil, podendo levar a orquiectomias desnecessárias. O objetivo deste relato foi apresentar esse dilema diagnóstico em um paciente com HAC e tumores testiculares bilaterais. MÉTODOS: Relatou-se o caso de um paciente masculino, 16 anos, com diagnóstico de HAC desde os 3 anos de idade, que apresentava tumorações testiculares endurecidas, indolores e de crescimento lento, sendo encaminhado para orquiectomia bilateral. RESULTADOS: Foi decidido por tratamento conservador com prednisona, havendo significativa diminuição do volume testicular e normalização dos níveis de andrógenos. CONCLUSÃO: Este caso demonstra a importância de sempre se considerar a hipótese de HRA intratesticulares no diagnóstico diferencial dos tumores testiculares. A investigação e a conduta devem ser conduzidas de maneira cautelosa para se evitar orquiectomias desnecessárias.

OBJECTIVES: Testicular tumors are a rare condition associated with congenital adrenal hyperplasia (CAH), originated from intratesticular adrenal rest tumors, and they are rarely associated with malignant tumors. Their histological differentiation from Leydig-cell tumors is quite difficult, which would lead to inappropriate orchiectomies. Thus the objective of this report was to present this diagnostic dilemma. METHODS: Reported the case of 16-yr-old boy with previous diagnosis of CAH with bilateral testicular enlargement who was recommended to be submitted to a bilateral orchiectomy. RESULTS: Considering this findings, it was decided to treat conventionally with prednisone with significant reduction of testicular volume, and normalization of androgens levels. CONCLUSION: This case shows the importance of intratesticular adrenal rest tumors in the differential diagnosis of testicular tumors. Cautious approach during investigation and treatment are recommended to avoid inappropriate orchiectomies.

Mielolipoma suprarrenal gigante: reporte de un caso y revisión de la literatura / Giant Adrenal myelolipoma: a case report and literature review

Presentamos un caso de mielolipoma suprarrenal gigante, para ilustrar la expresión y el manejo de esta rara patología. Este tumor benigno poco frecuente, compuesto de tejido hematopoyético maduro y tejido adiposo en proporciones variables, generalmente se diagnostica de forma incidental y sólo tiene indicación quirúrgica en aquellos casos en los que producen síntomas o alcanza grandes dimensiones. Describimos el caso de una paciente de 56 años, asintomática, con el hallazgo incidental de tumor suprarrenal de grandes dimensiones, tratado mediante resección quirúrgica en el servicio de Cirugía III del Hospital Universitario de Caracas

Case report of giant adrenal myelolipoma to describe the presentation and the treatment for this rare entity. This uncommon benign tumor, composed of variables proportions of mature hemopoyetic tissue and fat, is diagnosed incidentally and has indication of surgery only in the few cases in which it turns symptomatic or it reach big dimensions. We report the case of a 56-years-old asymptomatic female, in who is incidentally detected a giant adrenal tumor, surgically resected at the Hospital Universitario de Caracas, Servicio Cirugia III

Tumor testicular por restos suprarrenales en un adolescente con hiperplasia suprarrenal congénita clásica: revisión de su fiopatología e implicancias en fertilidad / Testicular adrenal rest tumors in a teenager with classical congenital adrenal hyperplasia: report of one case

Testicular Adrenal Rest Tumors (TART) may play a role in fertility disturbances of patients with Classical Congenital Adrenal Hyperplasia (CAH). We report a 17 years old male with classical CAH, diagnosed in the newborn period due to a salt wasting crisis with dehydration and severe hyponatremia. He was treated with cortisol and fludrocortisone with a low adherence to therapy. He had a precocious puberty and accelerated bone age, and was treated with a luteinizing hormone releasing hormone (LHRH) analog during two years. At the age of 14 years, bilateral testicular masses were detected during the physical examination. Testicular color Doppler ultrasound showed the presence of TART. A new ultrasound at 17 years of age showed the persistence of adrenal rests and an abnormal testicular growth.

A case of testicular adrenal rest tumor in a male child with congenital adrenal hyperplasia / 소아과

Testicular adrenal rest tumors are a well-known complication in male patients with congenital adrenal hyperplasia. Corticosteroid suppressive therapy usually results in the regression of these tumors. We describe a patient with 21-hydroxylase deficiency who developed bilateral testicular masses. Despite steroid suppressive therapy, the tumors did not regress and hormonal control was poor. Consequently, bilateral partial orchiectomies were performed.

Adrenal tumors: surgical treatment

Both benign and malignant tumors in adrenal glands could make hypersecretion syndrom arised. Benign tumor usually has small size, homogenous intensity on cross-section. Opening surgery to remove the adrenal gland remains a safe and effective operation. However, a well trained surgeons can remove the tumors by endoscopy. It is an invasive interference with a short term hospitalisation with very low rate of complications.

Two Cases of Secondary Central Precocious Puberty Occurred in Congenital Adrenal Hyperplasia / 대한소아내분비학회지

We experienced two cases of congenital adrenal hyperplasia(CAH), complicated by true precocious puberty with early maturation of the hypothalamic-pituitary-gonadal axis in a boy and a girl. The boy was diagnosed as CAH at 8 years of age, when he showed pseudoprecocity with adrenal rest tumor. The girl was diagnosed at neonate, when she showed ambiguous genitalia and salt-losing symptom. They developed precocious puberty during steroid treatment. Clinically they showed precocity, advanced bone age, and decreased predicted adult height, even though they showed partial gonadotrophin response to luteinizing hormone releasing hormone (LHRH) stimulation test. They were treated with LHRH analogue(leuprolide depot) resulting no further progression of precocity.

A Case of Congenital Adrenal Hyperlasia Misdiagnosed as Leydig Cell Tumor / 대한소아내분비학회지

We experienced a boy manifesting sexual precocity with unilateral testicular tumor, who was finally diagnosed as CAH with 21-hydroxylase deficiency. Initial laboratory findings were compatible with peripheral precocious puberty. Ultrasonogram for testes showed heterogenous high echoic mass in the right testicle. Radical orchiectomy was performed and its pathology revealed benign Leydig cell tumor without Reinke crystal. But, testosterone was not decreased after 1 month of surgery. Second laboratory exam revealed increased DHEA-S and 17-hydroxyprogesterone. Finally, this case was recognized as CAH(simple virilizing type) with unilateral testicular adrenal rest tumor. In conclusion, CAH should always be considered during etiologic study for the male sexulal precocity even with unilateral testicular tumor.

Disseminated histoplasmosis presenting as bilateral adrenal masses

Histoplasma capsulatum e um fungo universal dimorfico encontrado principalmente em solo contaminado com fezes de aves e morcegos. A apresentacao clinica inicial dos casos de histoplasmose disseminada raramente se caracteriza pela presenca de massas supra-renais bilaterais e insuficiencia adrenal por desnutricao tecidual importante. Por ser um agente oportunista existe maior susceptibilidade para os quadros de disseminacao naqueles pacientes com imunodeficiencia ou imunosupressao. Nos relatamos um caso de uma paciente idosa e diabetica com aumento bilateral das supra-renais e apresentacao clinica vaga, sendo feito o diagnostico de histoplasmose disseminada apenas apos a exploracao cirurgica das supra-renais. Possivelmente se passaram 60 anos entre a infeccao primaria e o inicio dos sintomas. O tratamento foi realizado com uso de itraconazol