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Open access

Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype

Bruno Bouça, Mariana Cascão, Pedro Fiúza, Sara Amaral, Paula Bogalho, and José Silva-Nunes

Summary

17-Alpha-hydroxylase deficiency (17OHD) is a rare autosomal recessive disease, representing 1% of cases of congenital adrenal hyperplasia. A 44-year-old female presented to the emergency department complaining of generalized asthenia and polyarthralgia for about 2 weeks. On examination, she was hypertensive (174/100 mmHg), and laboratory results revealed hypokalemia and hypocortisolism. She had an uncharacteristic morphotype, BMI of 16.7 kg/m2, cutaneous hyperpigmentation, and Tanner stage M1P1, with normal female external genitalia. She reported to have primary amenorrhea. Further analytical evaluations of her hormone levels were performed CT scan revealed adrenal bilateral hyperplasia and absence of female internal genitalia. A nodular lesion was observed in the left inguinal canal with 25 × 10 mm, compatible with a testicular remnant. Genetic analysis identified the c.3G>A p.(Met1?) variant in homozygosity in the CYP17A1 gene, classified as pathogenic, confirming the diagnosis of 17OHD. Karyotype analysis was compatible with 46,XY. The association of severe hypokalemia, hypertension, hypocortisolism, and oligo/amenorrhea and the absence of secondary sexual characteristics favored the diagnosis of 17OHD, confirmed by genetic testing. As in other published clinical cases, diagnosis outside pediatric age is not rare and should be considered when severe hypokalemia occurs in hypertensive adults with a lack of secondary sexual characteristics.

Learning points

  • The association of severe hypokalemia, hypertension, hypocortisolism, and oligo/amenorrhea and the absence of secondary sexual characteristics favor the diagnosis of 17-alpha-hydroxylase deficiency (17OHD).

  • Diagnosis outside pediatric age is not rare.

  • 17OHD should be considered when severe hypokalemia occurs in hypertensive adults with a lack of secondary sexual characteristics.

DOI:
https://doi.org/10.1530/EDM-22-0338
Volume 2023: Issue 2
Open access

Stress-induced severe transient hypercortisolism with reversible bilateral adrenal enlargement after cardiogenic shock

Jairo Arturo Noreña, Medha Joshi, Mandip S Rawla, Elizabeth Jenkins, and Elias S Siraj

Summary

Acute illness-related stress can result in severe hypercortisolism and bilateral adrenal enlargement in certain patients. We report a case of stress-induced hypercortisolism and bilateral adrenal enlargement in a patient admitted for acute respiratory distress and cardiogenic shock. Bilateral adrenal enlargement and hypercortisolism found during hospitalization for acute illness resolved 3 weeks later following the resolution of acute illness. Acute illness can be a precipitating factor for stress-induced hypercortisolism and bilateral adrenal enlargement. We hypothesize that increased adrenocorticotrophic hormone mediated by corticotrophin-releasing hormone from physical stress resulted in significant adrenal hyperplasia and hypercortisolism. This mechanism is downregulated once acute illness resolves.

Learning points

  • Adrenal enlargement with abnormal adrenal function after stress is uncommon in humans; however, if present, it can have self-resolution after the acute illness is resolved.

  • Stress induces enlargement of the adrenals, and the degree of cortisol elevation could be very massive. This process is acute, and the absence of cushingoid features is expected.

  • Treatment efforts should be focused on treating the underlying condition.

DOI:
https://doi.org/10.1530/EDM-22-0329
Volume 2023: Issue 2
Open access

Novel likely pathogenic variant in NR5A1 gene in a Tanzanian child with 46,XY differences of sex development, inherited from the mosaic father

Rahim Karim Damji, Mohamed Zahir Alimohamed, Hedi L Claahsen-van der Grinten, Dineke Westra, and Ben Hamel

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.

DOI:
https://doi.org/10.1530/EDM-22-0384
Volume 2023: Issue 2
Open access

False-positive 123I-metaiodobenzylguanidine scintigraphy in a patient with a gastrointestinal stromal tumor presenting as a left adrenal incidentaloma

Erika Sugito, Akiyo Tanabe, Koji Maruyama, Kyoko Nohara, Naoki Enomoto, Ryotaro Bouchi, Mitsuru Ohsugi, Kohjiro Ueki, Kazuhiko Yamada, and Hiroshi Kajio

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.

DOI:
https://doi.org/10.1530/EDM-22-0390
Volume 2023: Issue 1
Open access

A case of unilateral post-COVID-19 adrenal haemorrhage and follow-up during pregnancies

Alessandra Mangone, Quratulain Yousuf, Wiebke Arlt, Alessandro Prete, Fozia Shaheen, Senthil-kumar Krishnasamy, Yasir S Elhassan, and Cristina L Ronchi

Summary

The spectrum of endocrine-related complications of COVID-19 infection is expanding; one of the most concerning of which is adrenal haemorrhage due to the risk of catastrophic adrenal crisis. In this study, we present a case that highlights the challenging management of a large, indeterminate unilateral adrenal mass during pregnancy and draws attention to a rare yet probably underestimated complication of COVID-19. During hospitalization for severe COVID-19 pneumonia, a 26-year-old woman was incidentally found to have a 12.5 cm heterogeneous left adrenal mass. Soon after the discovery, she became pregnant and upon referral, she was in the seventh week of gestation, without clinical or biochemical features of hormonal excess. The uncertainty of the diagnosis and the risks of malignancy and surgical intervention were discussed with the patient, and a period of radiological surveillance was agreed upon. An MRI scan performed 3 months later showed a size reduction of the adrenal lesion to 7.9 cm, which was against malignancy. A Doppler ultrasound showed a non-vascular, well-defined round lesion consistent with an adrenal haematoma, likely a complication of the recent COVID-19 infection. The multidisciplinary team recommended further radiological follow-up. The patient then spontaneously had miscarriage at 12 weeks gestation. Subsequent radiological surveillance showed a further size reduction of the adrenal lesion to 5.5 cm. The patient conceived again during follow-up, and the repeated Doppler ultrasound showed stable appearances of the adrenal mass, and thus, it was agreed to continue radiological monitoring after delivery. The pregnancy was uneventful, and the patient delivered a healthy baby. An MRI scan performed after delivery showed a stable but persistent lesion consistent with a likely underlying adrenal lesion.

Learning points

  • Unilateral adrenal haemorrhage can occur as a complication of COVID-19 and should be considered in the differential diagnosis of heterogeneous adrenal masses if there is a history of recent infection.

  • Management of large indeterminate adrenal masses during pregnancy poses several challenges and should be led by an experienced multidisciplinary team.

  • Underlying adrenal tumours may trigger non-traumatic haemorrhages, especially if exacerbated by stressful illness.

DOI:
https://doi.org/10.1530/EDM-22-0337
Volume 2022: Issue 1
Open access

De novo purely prostatic large-cell neuroendocrine carcinoma with thyroid and adrenal metastases

Evangelos Karvounis, Ioannis Zoupas, Dimitra Bantouna, Rodis D Paparodis, Roxani Efthymiadou, Christina Ioakimidou, and Christos Panopoulos

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.

DOI:
https://doi.org/10.1530/EDM-22-0301
Volume 2022: Issue 1
Open access

Multiorgan sarcoidosis as a diabetes insipidus mask

Katarzyna Guziejko, Łukasz Minarowski, Agata Piłaszewicz-Puza, Anna Szumera-Ciećkiewicz, and Robert Marek Mróz

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.

DOI:
https://doi.org/10.1530/EDM-22-0266
Volume 2022: Issue 1
Open access

Pheochromocytoma crisis precipitated by dexamethasone with profound lactic acidosis, but without severe hypertension

David Lin, Jai Madhok, Jason Bouhenguel, and Frederick Mihm

Summary

We describe a case of a 47-year-old patient who presented with severe lactic acidosis, troponinemia, and acute kidney injury after receiving 8 mg of intramuscular dexamethasone for seasonal allergies in the setting of an undiagnosed epinephrine-secreting pheochromocytoma. This case was atypical, however, in that the patient exhibited only mildly elevated noninvasive measured blood pressures. Following a period of alpha-adrenergic blockade, the tumor was resected successfully. Steroid administration can precipitate pheochromocytoma crisis that may present unusually as in our patient with mild hypertension but profound lactic acidosis.

Learning points

  • Steroids administered via any route can precipitate pheochromocytoma crisis, manifested by excessive catecholamine secretion and associated sequelae from vasoconstriction.

  • Lack of moderate/severe hypertension on presentation detracts from consideration of pheochromocytoma as a diagnosis.

  • Lactatemia after steroid administration should prompt work-up for pheochromocytoma, as it can be seen in epinephrine-secreting tumors.

  • Noninvasive blood pressure measurements may be unreliable during pheochromocytoma crisis due to excessive peripheral vasoconstriction.

DOI:
https://doi.org/10.1530/EDM-22-0306
Volume 2022: Issue 1
Open access

Congenital lipoid adrenal hyperplasia in a Saudi infant

Siham Hussein Subki, Raghad Wadea Mohammed Hussain, and Abdulmoein Eid Al-Agha

Summary

Congenital lipoid adrenal hyperplasia (CLAH) is characterized by a defect in the STAR protein-encoding gene that attenuates all steroidogenesis pathways. Herein, we present the first reported case in Saudi Arabia of a 46 XY, phenotypically female infant with an unfamiliar, darkened complexion compared to the family’s skin color. Based on the clinical and biochemical findings, CLAH was diagnosed and glucocorticoid replacement therapy was initiated. As a result, we suggest that pediatricians should always investigate the possibility of adrenal insufficiency when encountering unusual dark skin.

Learning points

  • Pediatricians should be prompted to rule out adrenal insufficiency in unexpectedly dark skin neonates.

  • In such patients, pediatricians should not wait until the neonate develops an adrenal crisis.

  • A low level of 17-hydroxyprogesterone does not always rule out the possibility of inherited adrenal gland disorders, and additional tests should be performed for early detection.

DOI:
https://doi.org/10.1530/EDM-22-0294
Volume 2022: Issue 1
Open access

A serious and unusual presentation of congenital isolated ACTH deficiency due to TBX19 mutation, beyond the neonatal period

Inês Henriques Vieira, Nádia Mourinho Bala, Fabiana Ramos, Isabel Dinis, Rita Cardoso, Joana Serra Caetano, Dírcea Rodrigues, Isabel Paiva, and Alice Mirante

Summary

Congenital isolated adrenocorticotrophic hormone (ACTH) deficiency due to T-box transcription factor-19 (TBX19 mutation) (MIM 201400; ORPHA 199296) usually presents in the neonatal period with severe hypoglycemia, seizures, and sometimes prolonged cholestatic jaundice. We report a case with an unusual presentation that delayed the diagnosis. A 9-month-old female patient with no relevant personal history was admitted to the emergency department due to a hypoglycemic seizure in the context of acute gastroenteritis. There was rapid recovery after glucose administration. At age 4, she presented with tonic-clonic seizures, fever, and gastrointestinal symptoms and came to need support in an intensive care unit. Low serum cortisol was documented and hydrocortisone was initiated. After normalization of inflammatory parameters, the patient was discharged with hydrocortisone. The genetic investigation was requested and compound heterozygous mutations in TBX19 were detected. This is a rare case of presentation of TBX19 mutation outside the neonatal period and in the setting of acute disease, which presented a diagnostic challenge.

Learning points

  • Congenital isolated adrenocorticotrophic hormone deficiency due to TBX19 mutation usually presents with neonatal hypoglycemia and prolonged cholestatic jaundice.

  • An uneventful neonatal period, however, does not exclude the diagnosis as the disease may be asymptomatic at this stage.

  • In the context of idiopathic hypoglycemia, even in the context of acute disease, hypocortisolism must always be excluded.

  • Genetic evaluation should be performed in cases of congenital central hypocortisolism to allow proper counselling.

DOI:
https://doi.org/10.1530/EDM-22-0277
Volume 2022: Issue 1