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Christina Lee Department of Pediatrics, University of Maryland Children’s Hospital, Baltimore, Maryland, USA

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Leah Hirschman Department of Pediatrics, University of Maryland Children’s Hospital, Baltimore, Maryland, USA

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Teresa York Department of Pediatric Hematology/Oncology, University of Maryland Children’s Hospital, Baltimore, Maryland, USA

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Paula Newton Department of Pediatric Endocrinology, University of Maryland Children’s Hospital, Baltimore, Maryland, USA

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Summary

Neonatal adrenal hemorrhage (NAH) occurs in up to 3% of infants and is the most common adrenal mass in newborns. The most common presentation of NAH is an asymptomatic palpable flank mass which resolves over time without intervention. In rare cases, NAH can present as hemorrhage, shock, or adrenal insufficiency. This case describes a preterm infant born with severe anemia in the setting of bilateral adrenal hemorrhages with resulting adrenal insufficiency. The infant was successfully treated with blood transfusions and steroids. This is a unique presentation of NAH as it was bilateral, presented with severe anemia, and resulted in prolonged adrenal insufficiency.

Learning points

  • Consider adrenal hemorrhage for cases of severe anemia at birth.

  • Adrenal insufficiency is a rare complication of adrenal hemorrhage.

  • Adrenal recovery can take months, if not years.

Open access
Hendra Zufry Division of Endocrinology, Metabolism, and Diabetes, Department of Internal Medicine, School of Medicine/Dr. Zainoel Abidin Hospital, Universitas Syiah Kuala, Banda Aceh, Indonesia
Innovation and Research Center of Endocrinology, School of Medicine, Universitas Syiah Kuala, Banda Aceh, Indonesia

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Putri Oktaviani Zulfa Innovation and Research Center of Endocrinology, School of Medicine, Universitas Syiah Kuala, Banda Aceh, Indonesia

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Rosdiana Rosdiana Department of Internal Medicine, Tengku Abdullah Syafii Hospital, Beureunuen, Pidie, Aceh, Indonesia

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Krishna Wardhana Sucipto Division of Endocrinology, Metabolism, and Diabetes, Department of Internal Medicine, School of Medicine/Dr. Zainoel Abidin Hospital, Universitas Syiah Kuala, Banda Aceh, Indonesia

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Agustia Sukri Ekadamayanti Division of Endocrinology, Metabolism, and Diabetes, Department of Internal Medicine, School of Medicine/Dr. Zainoel Abidin Hospital, Universitas Syiah Kuala, Banda Aceh, Indonesia

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Sarah Firdausa Division of Endocrinology, Metabolism, and Diabetes, Department of Internal Medicine, School of Medicine/Dr. Zainoel Abidin Hospital, Universitas Syiah Kuala, Banda Aceh, Indonesia

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Summary

Symptoms of primary adrenal insufficiency (PAI) are commonly nonspecific, causing the disease to be misdiagnosed or often delayed, and patients may present to the hospital with a life-threatening crisis. Previous case reports have documented that patients in this condition often require lifelong glucocorticoid replacement therapy. This study aimed to present a noteworthy outcome of PAI caused by adrenal tuberculosis infection, demonstrating complete recovery after six months of glucocorticoid replacement therapy. A 38-year-old Indonesian man presented to the endocrinology clinic in a tertiary hospital with a chief complaint of epigastric pain. The patient experienced nausea, vomiting, loss of consciousness, weight loss, excessive sweat, decreased appetite, weakness, and dizziness in the past 2 weeks. Laboratory examinations revealed hyponatremia, elevated adrenocorticotropic hormone, and suppressed morning plasma cortisol level. A non-contrast-enhanced abdominal MRI showed unilateral right-side adrenal enlargement and calcification. The patient’s Mantoux test was positive. Corticosteroids and anti-tuberculosis therapy were administered. After 6 months, hydrocortisone was discontinued due to the patient’s good clinical condition and normal morning plasma cortisol levels. After a 1-year follow-up, the patient remained asymptomatic with normal cortisol levels. We hypothesized several reasons for this unique outcome: (i) the patient was relatively young compared to previous cases, suggesting an adequate immune system may play a role; (ii) despite a 1-month delay in diagnosis and treatment, the absence of skin hyperpigmentation suggested an acute presentation, potentially contributing to the favorable outcome; and (iii) the absence of comorbidities potentially positively impacted the patient's outcome.

Learning points

  • Symptoms of adrenal insufficiency are often nonspecific and may only become apparent once significant damage has occurred to the adrenal gland.

  • Clinical adjustments and a comprehensive understanding of epidemiological knowledge are necessary for diagnosing patients with endocrine diseases in limited-resource settings.

  • Complete recovery in primary adrenal insufficiency caused by tuberculosis infection might be due to younger age, acute presentation, and absence of comorbidities

Open access
Sandra Martens Ghent University Hospital, Ghent, Belgium

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Bruno Lapauw Ghent University Hospital, Ghent, Belgium
Ghent University, Ghent, Belgium

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Summary

Mitotane is used for treatment of advanced adrenocortical carcinoma. It is administered when the carcinoma is unresectable, metastasized, or at high-risk of recurrence after resection. In addition, mitotane is considered to have direct adrenolytic effects. Because of its narrow therapeutic–toxic range, therapeutic drug monitoring (TDM) is warranted. In 2020, a left-sided adrenal gland tumor was found (5.8 cm) in a 38-year-old man. Considering the size of this lesion and inability to exclude an adrenocortical carcinoma on imaging, a laparoscopic adrenalectomy was performed. Histopathologic examination determined presence of an adrenocortical carcinoma (pT2N0M0 ENSAT stadium II; ki67 10–15%). There was no evidence for residual or metastatic disease but given the high risk of recurrence, adjuvant therapy with mitotane was initiated. During TDM, a sudden and spuriously high level of mitotane was observed but without signs or symptoms of toxicity. After exploration, it was found that this high concentration was completely due to uncontrolled hypertriglyceridemia. After correction thereof, mitotane levels were again in the therapeutic range. This observation underscores the importance of TDM sampling in a fasting state with concurrent control of prevalent or incident dyslipidemia.

Learning points

  • TDM of mitotane is advocated to achieve therapeutic levels while avoiding toxicity. For correct TDM, sampling should be done at least 12 h after last intake of mitotane.

  • Although sampling in fasting conditions in not explicitly mentioned in the guidelines, fasting state should be considered as elevated serum triglyceride levels might cause spuriously high mitotane levels.

  • In patients undergoing treatment with mitotane and presenting with too high or unexplained fluctuating mitotane levels without signs or symptoms of toxicity, hypertriglyceridemia as a possible cause should be investigated.

  • If dyslipidemia occurs in patients under mitotane treatment, other causes than mitotane (e.g. alcohol abuse and diabetes) should be considered and appropriate treatment should be initiated.

Open access
M Lockhart Academic Department of Endocrinology and Pathology, Connolly Hospital Blanchardstown/RCSI, Lucan, Ireland

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E Ali Academic Department of Endocrinology and Pathology, Connolly Hospital Blanchardstown/RCSI, Lucan, Ireland

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M Mustafa Academic Department of Endocrinology and Pathology, Connolly Hospital Blanchardstown/RCSI, Lucan, Ireland

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W Tormey Academic Department of Endocrinology and Pathology, Connolly Hospital Blanchardstown/RCSI, Lucan, Ireland

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S Sreenan Academic Department of Endocrinology and Pathology, Connolly Hospital Blanchardstown/RCSI, Lucan, Ireland

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A Saaed Ophthalmological Surgery Department, Hermitage Medical Clinic, Lucan, Ireland

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JH McDermott Academic Department of Endocrinology and Pathology, Connolly Hospital Blanchardstown/RCSI, Lucan, Ireland

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Summary

A patient treated with intramuscular testosterone replacement therapy for primary hypogonadism developed blurred vision shortly after receiving his testosterone injection. The symptom resolved over subsequent weeks and recurred after his next injection. A diagnosis of central serous chorioretinopathy (CSR) was confirmed following ophthalmology review. A decision was made to change the patient’s testosterone regime from this 12-weekly intramuscular injection to a daily topical testosterone gel, given the possibility that peak blood levels of testosterone following intramuscular injection were causing his ocular complaint. His CSR did not recur after this change in treatment. CSR secondary to testosterone therapy is a rare finding but has been reported previously in the literature.

Learning Points

  • Blurred vision in patients treated with testosterone replacement therapy (TRT) should prompt an ophthalmology review.

  • The potential for reduced risk of central serous chorioretinopathy (CSR) with daily transdermal testosterone remains a matter of conjecture.

  • CSR is a rare potential side effect of TRT.

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Rahim Karim Damji Department of Paediatrics, Regency Medical Centre, Dar es Salaam, Tanzania

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Mohamed Zahir Alimohamed Shree Hindu Mandal Hospital, Dar es Salaam, Tanzania
Department of Biochemistry, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania
Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands
Tanzania Human Genetics Organization, Dar es Salaam, Tanzania

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Hedi L Claahsen-van der Grinten Department of Paediatric Endocrinology, Amalia Children’s Hospital, Radboud University Medical Center, Nijmegen, The Netherlands

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Dineke Westra Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands

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Ben Hamel Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands

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Summary

Pathogenic variants in the nuclear receptor subfamily 5 group A member 1 gene (NR5A1), which encodes steroidogenic factor 1 (SF1), result in 46,XY and 46,XX differences of sex development (DSD). In 46,XY individuals with a pathogenic variant in the NR5A1 gene a variable phenotype ranging from mild to severe is seen, including adrenal failure, testis dysgenesis, androgen synthesis defects, hypospadias and anorchia with microphallus and infertility. We report the clinical, endocrinological and genetic characteristics of a patient with 46,XY DSD with a novel likely pathogenic missense variant in the NR5A1 gene. A retrospective evaluation of the medical history, physical examination, limited endocrinological laboratory analysis and genetic analysis with DSD gene panel testing was performed. A 1.5-month-old individual was referred with ambiguous genitalia. The karyotype was 46,XY. The endocrinological analyses were within normal male reference including a normal response of cortisol within an adrenocorticotropic hormone test. A novel heterozygous missense variant c.206G>C p.(Arg69Pro) in the NR5A1 gene was detected. This variant was present in mosaic form (~20%) in his unaffected father. Because another missense variant at the same position and other missense variants involving the same highly conserved codon have been reported, we consider this NR5A1 variant in this 46,XY DSD patient as likely pathogenic in accordance with the ACMG/AMP 2015 guidelines causing ambiguous genitalia but no adrenal insufficiency. This variant was inherited from the apparently unaffected mosaic father, which might have implications for the recurrence risk in this family.

Learning points

  • The importance of performing trio (patient and parents) sequencing is crucial in pointing out the origin of inheritance.

  • In a 46,XY differences of sex development patient, a normal adrenal function does not rule out an NR5A1 mutation.

  • With the support of a dedicated overseas institute partnership, we could solve this complex clinical case by molecular diagnosis in a resource-limited setting.

Open access
Erika Sugito Department of Diabetes, Endocrinology, and Metabolism, Center Hospital, National Center for Global Health and Medicine, Tokyo, Japan

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Akiyo Tanabe Department of Diabetes, Endocrinology, and Metabolism, Center Hospital, National Center for Global Health and Medicine, Tokyo, Japan

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Koji Maruyama Department of Diabetes, Endocrinology, and Metabolism, Center Hospital, National Center for Global Health and Medicine, Tokyo, Japan

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Kyoko Nohara Department of Surgery, Center Hospital, National Center for Global Health and Medicine, Tokyo, Japan

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Naoki Enomoto Department of Surgery, Center Hospital, National Center for Global Health and Medicine, Tokyo, Japan

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Ryotaro Bouchi Department of Diabetes, Endocrinology, and Metabolism, Center Hospital, National Center for Global Health and Medicine, Tokyo, Japan
Diabetes and Metabolism Information Center, Diabetes Research Center, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan

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Mitsuru Ohsugi Department of Diabetes, Endocrinology, and Metabolism, Center Hospital, National Center for Global Health and Medicine, Tokyo, Japan
Diabetes and Metabolism Information Center, Diabetes Research Center, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan

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Kohjiro Ueki Department of Diabetes, Endocrinology, and Metabolism, Center Hospital, National Center for Global Health and Medicine, Tokyo, Japan
Department of Molecular Diabetic Medicine, Diabetes Research Center, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan

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Kazuhiko Yamada Department of Surgery, Center Hospital, National Center for Global Health and Medicine, Tokyo, Japan

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Hiroshi Kajio Department of Diabetes, Endocrinology, and Metabolism, Center Hospital, National Center for Global Health and Medicine, Tokyo, Japan

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Summary

A 47-year-old man was diagnosed with a left adrenal incidentaloma at 40 years of age. The tumor had irregular margins and grew from 18 mm to 30 mm in maximum diameter over 7 years. On computed tomography scan, the mass appeared to localize within the tip of the lateral limb of the left adrenal gland, and between the left adrenal gland and the posterior wall of the stomach. The plasma corticotropin and cortisol concentrations and the 24-h urine fractionated metanephrine levels were normal. 123I-metaiodobenzylguanidine scintigraphy showed tumor avidity consistent with a hormonally inactive pheochromocytoma. A laparoscopic left adrenalectomy was performed; however, no tumor was present in the resected specimen. Abdominal computed tomography postoperatively showed that the tumor remained intact and appeared to connect to the posterior wall of the stomach. A laparotomy was performed and the tumor was removed. The tumor was localized to the intraperitoneal space and isolated from the posterior wall of the stomach. The pathological diagnosis was a gastrointestinal stromal tumor. Clinicians need to be aware of the limitations of diagnostic imaging studies in diagnosing non-functioning adrenal incidentalomas, which require a pathological analysis for the final diagnosis. Moreover, clinicians need to provide patients with sufficient informed consent when deciding on treatment strategies.

Learning points

  • Anatomic structures and tumors that develop in neighboring tissues to the adrenal glands may be confused with primary adrenal tumors.

  • 123I- metaiodobenzylguanidine (MIBG) scintigraphy is specific for diagnosing pheochromocytomas and paragangliomas; however, it has been reported that 123I-MIBG may accumulate in neuroendocrine tumors as well as other tumors.

  • Clinicians should recognize the limitations of imaging studies and the uncertainty of an imaging-based preoperative diagnosis.

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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
Katarzyna Guziejko 2nd Department of Lung Diseases and Tuberculosis

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Łukasz Minarowski 2nd Department of Lung Diseases and Tuberculosis

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Agata Piłaszewicz-Puza Department of Medical Pathomorphology, Medical University of Bialystok, Bialystok, Poland

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Anna Szumera-Ciećkiewicz Department of Pathology, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland

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Robert Marek Mróz 2nd Department of Lung Diseases and Tuberculosis

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Summary

Sarcoidosis is an inflammatory, multisystem disease with an undetermined etiology. The presence of noncaseating granulomas in involved organs is a characteristic pathomorphological feature. Sarcoidosis, like a chameleon, can mimic different medical conditions. Although the lungs are most commonly involved, extrapulmonary manifestations can influence any system. The clinical course of the disease may differ. Immediate initiation of glucocorticosteroid therapy is important when critical organs are impaired. A case of a patient with sarcoidosis whose first clinical symptoms were related to diabetes insipidus (DI) was presented. The diagnosis of multiple organ sarcoidosis was delayed because of an adequate response to treatment with vasopressin. The multidisciplinary diagnostic approach validated the involvement of the pituitary gland, lungs, lymph nodes, bones, and subcutaneous tissue. The presented case emphasizes the critical importance of the multifaceted differential diagnosis of patients with DI.

Learning points

  • Sarcoidosis usually affects the lung but can also be a multisystemic disease.

  • The assessment of the extension of sarcoidosis remains complex.

  • A multidisciplinary approach must identify all-organ involvement and initiate appropriate sarcoidosis treatment.

  • Diabetes insipidus (DI) can be the first symptom of a systemic granulomatous disorder.

  • In the differential diagnosis of DI, a comprehensive assessment of rare causes of endocrine disorders, including extrapulmonary sarcoidosis, should be considered.