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Evangelos Karvounis Department of Endocrine Surgery, ‘Euroclinic’ Hospital, Athens, Greece

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Ioannis Zoupas Department of Endocrine Surgery, ‘Euroclinic’ Hospital, Athens, Greece

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Dimitra Bantouna Private Practice, Patras, Greece

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Rodis D Paparodis Private Practice, Patras, Greece
Center for Diabetes and Endocrine Research, University of Toledo College of Medicine and Life Sciences, Toledo, Ohio, USA

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Roxani Efthymiadou PET-CT Department, Hygeia Hospital, Athens, Greece

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Christina Ioakimidou Department of Pathology

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Christos Panopoulos Department of Medical Oncology, ‘Euroclinic’ Hospital, Athens, Greece

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Summary

Large-cell neuroendocrine carcinoma (LCNEC) is a rare neuroendocrine prostatic malignancy. It usually arises after androgen deprivation therapy (ADT), while de novo cases are even more infrequent, with only six cases described. The patient was a 78-year-old man with no history of ADT who presented with cervical lymphadenopathy. Diagnostic approaches included PET/CT, MRI, CT scans, ultrasonography, biopsies, and cytological and immunohistochemical evaluations. Results showed a poorly differentiated carcinoma in the thyroid gland accompanied by cervical lymph node enlargement. Thyroid surgery revealed LCNEC metastasis to the thyroid gland. Additional metastases were identified in both the adrenal glands. Despite appropriate treatment, the patient died of the disease. De novo LCNEC of the prostate is a rare, highly aggressive tumor with a poor prognosis. It is resistant to most therapeutic agents, has a high metastatic potential, and is usually diagnosed at an advanced stage. Further studies are required to characterize this tumor.

Learning points

  • De novo LCNECs of the prostate gland can metastasize almost anywhere in the body, including the thyroid and adrenal glands.

  • LCNECs of the prostate are usually associated with androgen-depriving therapy, but de novo cases are also notable and should be accounted for.

  • Further studies are required to fully understand and treat LCNECs more effectively.

Open access
Nam Quang Tran Department of Endocrinology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam
Department of Endocrinology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam

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Chien Cong Phan Department of Imaging, University Medical Center at Ho Chi Minh City, Ho Chi Minh City, Vietnam

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Thao Thi Phuong Doan Department of Histopathology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam

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Thang Viet Tran Department of Endocrinology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam
Department of Endocrinology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam

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Summary

Primary adrenal insufficiency is a rare disease and can masquerade as other conditions; therefore, it is sometimes incorrectly diagnosed. Herein, we reported the case of a 39-year-old Vietnamese male with primary adrenal insufficiency due to bilateral adrenal tuberculosis. The patient presented to the emergency room with acute adrenal crisis and a 3-day history of nausea, vomiting, epigastric pain, and diarrhoea with a background of 6 months of fatigue, weight loss, and anorexia. Abdominal CT revealed bilateral adrenal masses. Biochemically, unequivocal low morning plasma cortisol (<83 nmol/L) and high plasma adrenocorticotropic hormone levels were consistent with primary adrenal insufficiency. There was no evidence of malignancy or lymphoma. As the patient was from a tuberculosis-endemic area, extra-adrenal tuberculosis was excluded during the work up. A retroperitoneal laparoscopic left adrenalectomy was performed, and tuberculous adrenalitis was confirmed by the histopathological results. The patient was started on antituberculous therapy, in addition to glucocorticoid replacement. In conclusion, even without evidence of extra-adrenal tuberculosis, a diagnosis of bilateral adrenal tuberculosis is required. A histopathological examination has a significant role along with clinical judgement and hormonal workup in establishing a definitive diagnosis of adrenal tuberculosis without evidence of active extra-adrenal involvement.

Learning points

  • Primary adrenal insufficiency can be misdiagnosed as other mimicking diseases, such as gastrointestinal illness, leading to diagnostic pitfalls.

  • Adrenal insufficiency can be confirmed with significantly low morning plasma cortisol levels of <83 nmol/L without a dynamic short cosyntropin stimulation test.

  • Tuberculous adrenalitis is an uncommon treatable condition; however, it remains an important cause of primary adrenal insufficiency, especially in developing countries. In the absence of extra-adrenal involvement, adrenal biopsy plays a key role in the diagnostic process. Alternatively, adrenalectomy for histopathological purposes should be considered if CT scan-guided fine needle aspiration is infeasible in cases of small adrenal masses.

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Ryizan Nizar Department of Diabetes and Endocrinology, Southmead Hospital, North Bristol NHS Trust, Bristol, UK

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Nathan W P Cantley Department of Clinical Biochemistry, Southmead Hospital, North Bristol NHS Trust, Bristol, UK

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Jonathan C Y Tang Norwich Medical School, University of East Anglia, Norwich Research Park, Norwich, UK

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Summary

A 33-year-old gentleman of Egyptian heritage presented with a 21 years history of unexplained and recurrent hypercalcaemia, nephrolithiasis, nephrocalcinosis, and myocarditis. A similar history was also found in two first-degree relatives. Further investigation into the vitamin D metabolism pathway identified the biochemical hallmarks of infantile hypercalcaemia type 1 (IIH). A homozygous, likely pathogenic, variant in CYP24A1 was found on molecular genetic analysis confirming the diagnosis. Management now focuses on removing excess vitamin D from the metabolic pathway as well as reducing calcium intake to achieve serum-adjusted calcium to the middle of the reference range. If undiagnosed, IIH can cause serious renal complications and metabolic bone disease.

Learning points

  • Infantile hypercalcaemia type 1 (IIH) is an autosomal recessive disorder characterised by homozygous mutations in the CYP24A1 gene that encodes the 24-hydroxylase enzyme used to convert active vitamin D metabolites such as 1,25-(OH)2-vitamin D into their inactive form.

  • IIH should be questioned in individuals presenting with a history of unexplained hypercalcaemia, especially if presenting from childhood and/or where there is an accompanying family history of the same in first and/or second degree relatives, causing complications such as nephrocalcinosis, pericarditis, and calcium-based nephrolithiasis.

  • Associated biochemistry of IIH is persistent mild to moderate hypercalcaemia, normal or raised 25-(OH)-vitamin D and elevated 1,25-(OH)2-vitamin D. An elevated ratio of 25-(OH)-vitamin D to 24,25-(OH)2-vitamin D can be a useful marker of defects in the 24-hydroxylase enzyme, whose measurement can be facilitated through the supra-regional assay service.

  • Management should focus on limiting the amount of vitamin D introduced into the body either via sunlight exposure or supplementation in addition to calcium dietary restriction to try and maintain appropriate calcium homeostasis

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Mariana Aveiro-Lavrador Endocrinology, Diabetes and Metabolism Department, Coimbra Hospital and University Center, Coimbra, Portugal

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Adriana De Sousa Lages Endocrinology Department, Braga Hospital, Braga, Portugal

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Luísa Barros Endocrinology, Diabetes and Metabolism Department, Coimbra Hospital and University Center, Coimbra, Portugal

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Isabel Paiva Endocrinology, Diabetes and Metabolism Department, Coimbra Hospital and University Center, Coimbra, Portugal

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Summary

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders related to enzyme deficiencies in the adrenal steroidogenesis pathway leading to impaired corticosteroid biosynthesis. Depending on the extension of enzyme defect, there may be variable severities of CAH – classic and non-classic. We report the case of a 37-year-old male patient with a previously unknown diagnosis of classic CAH referred to Endocrinology evaluation due to class III obesity and insulin resistance. A high diagnostic suspicion was raised at the first Endocrinology consultation after careful past medical history analysis especially related to the presence of bilateral adrenal myelolipomas and primary infertility. A genetic test confirmed the presence of a variant of the CYP21A2 in homozygous with an enzymatic activity of 0–1%, corresponding to a classic and severe CAH form. Our case represents an unusually late definitive diagnose of classic CAH since the definition was established only during adulthood in the fourth decade of life. The missing diagnosis of classic 21 hydroxylase deficiency during infancy led to important morbidity, with a high impact on patients’ quality of life.

Learning points

  • Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive enzyme disorders responsible for an impaired cortical adrenal hormonal synthesis.

  • CAH may be divided into two major forms: classic and non-classic CAH.

  • If untreated, CAH may be fatal or may be responsible for important multi-organ long-term consequences that can be undervalued during adulthood.

  • Adrenal myelolipomas are associated with chronic exposure to high ACTH levels and continuous androgen hyperstimulation typically found in undertreated CAH patients.

  • Testicular adrenal rest tumours (TART) and primary infertility can be the first manifestation of the disease during adulthood.

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Eriselda Profka Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

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Giulia Rodari Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
Endocrinology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy

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Federico Giacchetti Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
Endocrinology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy

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Alfredo Berrettini Pediatric Urology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy

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Gianantonio Manzoni Pediatric Urology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy

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Valeria Daccò Cystic Fibrosis Centre, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy

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Maura Arosio Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
Endocrinology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy

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Claudia Giavoli Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
Endocrinology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy

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Carla Colombo Department of Pathophysiology and Transplantation, University of Milan, Fondazione IRCCS Ca’ Granda, Ospedale Maggiore Policlinico, Milan, Italy

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Summary

An 8-year-old boy with cystic fibrosis came to our attention for an empty scrotum. General physical examination showed a normal penis and hypoplastic scrotum with non-palpable testes bilaterally. Routine blood investigations showed low levels of LH, testosterone, inhibin B and antiMullerian hormone and elevated levels of FSH. Karyotype was normal. An abdominal ultrasound confirmed the absence of the testes into the scrotum, in the inguinal region and abdomen. At laparoscopy were noted bilaterally hypotrophic spermatic vessels, absence of the vas deferens and a closed inner ring. Inguinal exploration found out a small residual testis and histological examination showed fibrotic tissue. This is the first case of testicular atrophy associated to CFTR mutation described. The process that led to bilateral testicular and vas deferens atrophy remains unexplained, a possible influence of CFTR dysfunction cannot be ruled out, although it is possible that these conditions are independently associated.

Learning points:

  • Cystic fibrosis produces a multisystemic disease which can affect also the reproductive tract.

  • Nearly 97–98% of male patients are infertile because of congenital bilateral absence of vas deferens.

  • A correlation between cystic fibrosis and bilateral testicular atrophy could be possible.

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Kaja Grønning Department of Endocrinology, Akershus University Hospital, Lorenskog, Norway

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Archana Sharma Department of Endocrinology, Akershus University Hospital, Lorenskog, Norway

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Maria Adele Mastroianni Department of Haematology, Akershus University Hospital, Lorenskog, Norway

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Bo Daniel Karlsson Department of Radiology, Akershus University Hospital, Lorenskog, Norway

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Eystein S Husebye Department of Clinical Science and K.G. Jebsen Center of Autoimmune Disorders, University of Bergen, Bergen, Norway
Department of Medicine, Haukeland University Hospital, Bergen, Norway

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Kristian Løvås Department of Clinical Science and K.G. Jebsen Center of Autoimmune Disorders, University of Bergen, Bergen, Norway
Department of Medicine, Haukeland University Hospital, Bergen, Norway

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Ingrid Nermoen Department of Endocrinology, Akershus University Hospital, Lorenskog, Norway
Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway

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Summary

Primary adrenal lymphoma (PAL) is a rare cause of adrenal insufficiency. More than 90% is of B-cell origin. The condition is bilateral in up to 75% of cases, with adrenal insufficiency in two of three patients. We report two cases of adrenal insufficiency presenting at the age of 70 and 79 years, respectively. Both patients had negative 21-hydroxylase antibodies with bilateral adrenal lesions on CT. Biopsy showed B-cell lymphoma. One of the patients experienced intermittent disease regression on replacement dosage of glucocorticoids.

Learning points:

  • Primary adrenal lymphoma (PAL) is a rare cause of adrenal insufficiency.

  • Bilateral adrenal masses of unknown origin or in individuals with suspected extra-adrenal malignancy should be biopsied quickly when pheochromocytoma is excluded biochemically.

  • Steroid treatment before biopsy may affect diagnosis.

  • Adrenal insufficiency with negative 21-hydroxylase antibodies should be evaluated radiologically.

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M A Shehab Department of Endocrinology, BSMMU, Dhaka, Bangladesh

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Tahseen Mahmood Department of Endocrinology, BSMMU, Dhaka, Bangladesh

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M A Hasanat Department of Endocrinology, BSMMU, Dhaka, Bangladesh

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Md Fariduddin Department of Endocrinology, BSMMU, Dhaka, Bangladesh

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Nazmul Ahsan Department of Genetic Engineering & Biotechnology, University of Dhaka, Dhaka, Bangladesh

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Mohammad Shahnoor Hossain Department of Genetic Engineering & Biotechnology, University of Dhaka, Dhaka, Bangladesh

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Md Shahdat Hossain Department of Genetic Engineering & Biotechnology, University of Dhaka, Dhaka, Bangladesh

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Sharmin Jahan Department of Endocrinology, BSMMU, Dhaka, Bangladesh

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Summary

Congenital adrenal hyperplasia (CAH) due to the three-beta-hydroxysteroid-dehydrogenase (3β-HSD) enzyme deficiency is a rare autosomal recessive disorder presenting with sexual precocity in a phenotypic male. Klinefelter syndrome (KS) is the most common sex chromosome aneuploidy presenting with hypergonadotropic hypogonadism in a male. However, only a handful of cases of mosaic KS have been described in the literature. The co-existence of mosaic KS with CAH due to 3β-HSD enzyme deficiency portrays a unique diagnostic paradox where features of gonadal androgen deficiency are masked by simultaneous adrenal androgen excess. Here, we report a 7-year-old phenotypic male boy who, at birth presented with ambiguous genitalia, probably a microphallus with penoscrotal hypospadias. Later on, he developed accelerated growth with advanced bone age, premature pubarche, phallic enlargement and hyperpigmentation. Biochemically, the patient was proven to have CAH due to 3β-HSD deficiency. However, the co-existence of bilateral cryptorchidism made us to consider the possibility of hypogonadism as well, and it was further explained by concurrent existence of mosaic KS (47,XXY/46,XX). He was started on glucocorticoid and mineralocorticoid replacement and underwent right-sided orchidopexy on a later date. He showed significant clinical and biochemical improvement on subsequent follow-up. However, the declining value of serum testosterone was accompanied by rising level of FSH thereby unmasking hypergonadotropic hypogonadism due to mosaic KS. In future, we are planning to place him on androgen replacement as well.

Learning points:

  • Ambiguous genitalia with subsequent development of sexual precocity in a phenotypic male points towards some unusual varieties of CAH.

  • High level of serum testosterone, adrenal androgen, plasma ACTH and low basal cortisol are proof of CAH, whereas elevated level of 17-OH pregnenolone is biochemical marker of 3β-HSD enzyme deficiency.

  • Final diagnosis can be obtained with sequencing of HSD3B2 gene showing various mutations.

  • Presence of bilateral cryptorchidism in such a patient may be due to underlying hypogonadism.

  • Karyotyping in such patient may rarely show mosaic KS (47,XXY/46,XX) and there might be unmasking of hypergonadotropic hypogonadism resulting from adrenal androgen suppression from glucocorticoid treatment.

Open access
Xin Feng Division of Endocrinology, Department of Medicine, University of Calgary, Calgary, Alberta,Canada

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Gregory Kline Division of Endocrinology, Department of Medicine, University of Calgary, Calgary, Alberta,Canada

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Summary

In a 61-year-old Caucasian male with prostate cancer, leuprolide and bicalutamide failed to suppress the androgens. He presented to endocrinology with persistently normal testosterone and incidental massive (up to 18 cm) bilateral adrenal myelolipomas on CT scan. Blood test did not reveal metanephrine excess. The patient was noted to have short stature (151 cm) and primary infertility. Elementary school photographs demonstrated precocious puberty. Physical examination revealed palpable abdominal (adrenal) masses. Abiraterone and glucocorticoid treatment was commenced with excellent suppression of testosterone. Genetic testing revealed a mutation in CYP21A2 confirming 21-hydroxylase-deficient congenital adrenal hyperplasia (CAH). Association of large myelolipomas with CAH has been reported in the literature. Our case highlights the importance of considering CAH in patients with non-suppressed testosterone despite androgen deprivation therapy. Large myelolipomas should raise the suspicion of congenital adrenal hyperplasia.

Learning points:

  • Adrenal myelolipomas are rare benign lesions that are more common in patients with longstanding untreated congenital adrenal hyperplasia thought to be due to ACTH stimulation.

  • Consider undiagnosed congenital adrenal hyperplasia in patients with adrenal myelolipoma.

  • Glucocorticoid replacement may be an efficacious treatment for patients with prostate cancer and CAH. Abiraterone therapy has a risk of adrenal crisis if glucocorticoids are not replaced.

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Geetanjali Kale Division of Endocrinology, Diabetes, and Metabolism, Department of Medicine, University of Wisconsin, Madison, Wisconsin, USA

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Elaine M Pelley Division of Endocrinology, Diabetes, and Metabolism, Department of Medicine, University of Wisconsin, Madison, Wisconsin, USA

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Dawn Belt Davis Division of Endocrinology, Diabetes, and Metabolism, Department of Medicine, University of Wisconsin, Madison, Wisconsin, USA

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Summary

Myelolipomas have been reported in patients with congenital adrenal hyperplasia (CAH). ACTH excess, as seen with non-adherence to glucocorticoid therapy, may be responsible for tumor development. We report a case of a 51-year-old man with classic salt-wasting CAH managed on prednisone 7.5 mg daily and fludrocortisone who presented with chronic back pain and was found to have giant bilateral retroperitoneal masses. On computed tomography (CT) imaging, the masses were heterogeneous, but contained predominantly low-density fat attenuation. The tumors were resected due to concern for malignancy and mass symptoms. Pathologic examination identified both retroperitoneal masses as myelolipomas. The left tumor was 34×20×13 cm and weighed 4.7 kg and the right tumor was 20 cm in the largest dimension. Adrenal tissue was present in the specimen. The patient reported long-term compliance with glucocorticoid treatment. However, no biochemical monitoring of ACTH levels had occurred. Therefore, it is unclear if ACTH excess contributed to the development of these large tumors in this patient. It was presumed that both adrenal glands were inadvertently removed during surgery and the patient was treated with physiologic replacement doses of hydrocortisone and fludrocortisone postoperatively. In this case, the bilateral adrenalectomy was inadvertent. However, adrenalectomy can be considered as a treatment option in patients with classical CAH under certain circumstances to avoid complications of glucocorticoid excess.

Learning points

  • Myelolipomas should be considered in the differential diagnosis of adrenal or retroperitoneal masses in patients with CAH.

  • On CT imaging, myelolipomas are seen as heterogeneous masses with low-density mature fat interspersed with more dense myeloid tissue.

  • Myelolipomas are usually unilateral and measure <4 cm; however, very large and bilateral tumors have been reported.

  • Treatment of CAH typically involves using supraphysiologic doses of glucocorticoid to suppress adrenal hyperandrogenism. Bilateral adrenalectomy is an alternative treatment option in patients with CAH.

  • There is an association between ACTH excess and increased incidence of adrenal myelolipoma but the direct causal link remains to be established.

Open access
Marinos C Makris First Surgical Department of General Hospital of Athens ‘Georgios Gennimatas’, Alpha Institute of Biomedical Sciences (AIBS), Department of Pathology, Mesogeion 154, Athens 15669, Greece
First Surgical Department of General Hospital of Athens ‘Georgios Gennimatas’, Alpha Institute of Biomedical Sciences (AIBS), Department of Pathology, Mesogeion 154, Athens 15669, Greece

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Konstantinos C Koumarelas First Surgical Department of General Hospital of Athens ‘Georgios Gennimatas’, Alpha Institute of Biomedical Sciences (AIBS), Department of Pathology, Mesogeion 154, Athens 15669, Greece

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Apostolos S Mitrousias First Surgical Department of General Hospital of Athens ‘Georgios Gennimatas’, Alpha Institute of Biomedical Sciences (AIBS), Department of Pathology, Mesogeion 154, Athens 15669, Greece

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Giannos G Psathas First Surgical Department of General Hospital of Athens ‘Georgios Gennimatas’, Alpha Institute of Biomedical Sciences (AIBS), Department of Pathology, Mesogeion 154, Athens 15669, Greece

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Athanasios Mantzioros First Surgical Department of General Hospital of Athens ‘Georgios Gennimatas’, Alpha Institute of Biomedical Sciences (AIBS), Department of Pathology, Mesogeion 154, Athens 15669, Greece

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Stratigoula P Sakellariou First Surgical Department of General Hospital of Athens ‘Georgios Gennimatas’, Alpha Institute of Biomedical Sciences (AIBS), Department of Pathology, Mesogeion 154, Athens 15669, Greece

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Panagiota Ntailiani First Surgical Department of General Hospital of Athens ‘Georgios Gennimatas’, Alpha Institute of Biomedical Sciences (AIBS), Department of Pathology, Mesogeion 154, Athens 15669, Greece

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Evripides Yettimis First Surgical Department of General Hospital of Athens ‘Georgios Gennimatas’, Alpha Institute of Biomedical Sciences (AIBS), Department of Pathology, Mesogeion 154, Athens 15669, Greece

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Summary

Until now, less than ten cases of extra-adrenal chromaffin cell tumors have been reported to be localized to the spermatic cord area. All published studies report benign tumors with a diameter <2–3 cm and no invasion of the testis. In this article, we present one case of a giant malignant paraganglioma in the testis of a patient who had initially been operated for a giant mass in the scrotum. The mass developed in approximately 4 months. This is the first study reporting the following findings: i) paraganglioma was found exclusively in the testis, invading the testicle and not the spermatic cord, ii) it was malignant with lung metastasis, and iii) its size was 17.5 cm×10 cm×9.5 cm. We present the first – giant – malignant paraganglioma. Moreover, it is the first case report of a paraganglioma in the testis.

Learning points

  • This is the first study reporting the following findings:

  • Paraganglioma found exclusively in the testis, invading the testicle and not the spermatic cord.

  • It is malignant with lung metastasis.

  • It is of the size 17.5 cm×10 cm×9.5 cm.

Open access