Hard bilateral syphilitic testes with vasculitis: a case report and literature review

Background We report the case of a patient with syphilitic testicular gumma and vasculitis with adrenal failure due to chronic steroid use. Case presentation A 63-year-old male presented with hard right eye swelling and very firm bilateral testes on palpation, which he had for 2 years. Testicular tumor markers were negative; syphilis test was positive. Radiological examination suggested aortitis and bilateral testicular malignancy. The patient received ampicillin for the infection and prednisolone for vasculitis. Left orchidectomy was performed to confirm the presence of testicular tumor; histological examinations revealed granulomatous orchitis. The prednisolone doses were adjusted because of relapses and adverse effects of steroid use. Unfortunately, the patient died in the intensive care unit because of uncontrolled blood pressure and pneumonia. Conclusions This is a rare case of syphilis with testicular involvement and vasculitis. This report shows the importance of broadening the differential diagnoses of testicular firmness.

Diagnosis of Hypoaldosteronism in Infancy

Hypoaldosteronism is associated with either insufficient aldosterone production or lack of responsiveness to aldosterone and can be isolated or in the context of primary adrenal failure. Τhe severity of clinical manifestations is inversely correlated to age, with the neonatal period being the most vulnerable time for a patient to present with mineralocorticoid insufficiency. Salt-wasting forms of congenital adrenal hyperplasia (CAH), adrenal hypoplasia congenita (AHC), aldosterone synthase deficiency (ASD) and pseudohypoaldosteronism (PHA) are all causes of hypoaldosteronism in infancy. Affected infants present with salt wasting, failure to thrive and potentially fatal hyperkalemia and shock. Α blood sample for the essential hormonal investigations should be collected before any steroid treatment is given, in order to confirm aldosterone insufficiency and to determine the underlying cause. Renal ultrasonography and urine culture are also useful for exclusion of secondary causes of aldosterone resistance. Initial management requires treatment of electrolyte imbalances and restoration of intravascular fluid volume. In case of a salt-wasting crisis, affected infants are usually treated initially with both hydrocortisone and fludrocortisone, pending the results of investigations. Interpretation of the hormonal profile will guide further therapy and molecular analysis of candidate genes.

A Novel Intronic Splice—Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development

A novel CYP11A1: c.1236 + 5G > A was identified, expanding the mutation spectrum of the congenital adrenal insufficiency with 46,XY sex reversal. In a now 17-year-old girl delivered full-term (G2P2, parents unrelated), adrenal failure was diagnosed in the first year of life based on clinical picture of acute adrenal crisis with vomiting, dehydration, weight loss, hypotension, and electrolyte disturbances. At the time, hormonal tests revealed primary adrenocortical insufficiency and steroid profiles showed lack of products of steroidogenesis, and since then the patient has been treated with substitution doses of hydrocortisone and fludrocortisone. At the age of 14, considering the absence of puberty symptoms, extended diagnostic tests revealed elevated LH levels (26.5 mIU/mL) with pre-puberty FSH levels (4.9 mIU/mL), low estradiol (28 pmol/L), testosterone (<2.5 ng/mL), and extremely high levels of ACTH (4961 pg/mL). A cytogenetic study revealed a 46 XY karyotype. A molecular examination confirmed the missense mutation and a novel splice-site mutation of CYP11A1 gene. Compound heterozygosity for the CYP11A1 gene with a known pathogenic variant in one allele and a novel splice site mutation in the second allele is most probably responsible for congenital adrenal insufficiency with 46,XY sex reversal. We discuss the necessity of cytogenetic test in the case of early onset of adrenal failure in the absence of steroidogenesis metabolites in the steroid profile.

A Camouflaged Case of Disseminated Tuberculosis Presenting as Adrenal Crisis

Lymphohematogenous spread of mycobacterium tuberculosis to multiple organs presents a complex diagnostic challenge to any physician. A holistic and vigilant approach is required in the quest to diagnose disseminated tuberculosis causing adrenal failure. Although tuberculosis can affect various endocrine glands of the body yet adrenal remains the most common.[1] It is also the fifth most common site for extra-pulmonary tuberculosis.[2] The incidence of tuberculous Addison’s disease has lowered courtesy of anti-tubercular medications accounting for only 7-20% of cases.[1] Here we showcase a rare incidence where a 39 years old gentleman with no constitutional symptoms and no known co-morbidities presenting with neck pain went into adrenal crisis and eventually was found to be due to disseminated tuberculosis which affected his lungs, adrenal glands, cervical spine, and brain.

An Case of Poems Syndrome With Primary Adrenal Insufficiency

POEMS syndrome is rare multi-system disorder characterised by a paraneoplastic plasma cell disorder. The acronym POEMS stands for Polyneuropathy, Organomegaly, Endocrinopathy, M protein, and Skin changes. The underlying mechanisms are poorly understood, but chronic overproduction of pro-inflammatory cytokines have an integral role in the disorder. Diagnosis of POEMS is difficult owing to the variety of clinical manifestations. Mandatory diagnostic criteria are (a) one major criterion of either polyneuropathy or monoclonal gammopathy, in association with (b) one minor criterion including, but not limited to, organomegaly, endocrinopathy or skin changes. Endocrinopathies have been identified in 67–84% of patients with POEMS [1]. While hypogonadism and hypothyroidism are relatively common, primary adrenal failure is rarely reported. We present a 54-year-old woman who was found to have a raised hemoglobin, hematocrit and thrombocytosis on routine blood testing. She was concomitantly investigated for a rapidly-ascending, bilateral peripheral motor and sensory neuropathy. Diagnosis of POEMS was made and she underwent chemotherapy with Lenalidomide and high dose dexamethasone in 2015. Since then, she has not received endogenous glucocorticoids. She had an unplanned admission in April 2020 with a likely viral illness and was found to be glucocorticoid deplete. A 250-mcg short synacthen test demonstrated an inadequate response in cortisol, from 4.31 µg/dl to 6.13 µg/dl, with a raised adrenocorticotrophic hormone (ACTH) level of 66 mU/L. Adrenal antibodies were not detected. CT scan of the abdomen reported no adrenal gland abnormalities. The patient denied symptoms of mineralocorticoid deficiency, with no postural blood pressure (BP) drop - sitting BP 123/69 mmHg and standing BP 131/74 mmHg. Serum electrolytes were normal (renin and aldosterone levels are pending) and androgen screen was within normal limits. Thyroid stimulating hormone (TSH) was 8.07 mIU/L, free thyroxine (fT4) levels 0.93 ng/dL, and thyroid receptor and thyroid peroxidase antibodies were both negative. The patient is now established on Hydrocortisone therapy: 10mg (morning), 5mg (lunchtime). In summary, we present a 54-year-old woman with POEMS syndrome with subacute primary adrenal failure, characterised by glucocorticoid deficiency and ACTH excess. Although rare, it is important for all clinicians to be aware of POEMS syndrome as a potential diagnosis if the diagnostic criteria described above are filled, and for Endocrinologists to be aware that POEMS endocrinopathies can occur in any gland, including the adrenal glands. 1.Gandhi, G.Y., et al., Endocrinopathy in POEMS syndrome: the Mayo Clinic experience. Mayo Clin Proc, 2007. 82(7): p. 836–42.

Lupus anticoagulant hypoprothrombinemia syndrome associated with bilateral adrenal haemorrhage in a child: early diagnosis and intervention

Background Lupus anticoagulant-hypoprothrombinemia syndrome (LAHPS) is characterized by bleeding and thrombosis in patients with autoimmune diseases or infections. Paediatric LAHPS exhibits various degrees of bleeding, ranging from mild to severe; however, adrenal haemorrhage due to LAHPS and its long-term clinical course have not been sufficiently described. Case presentation A 9-year-old boy presented with prolonged abdominal pain and abnormal coagulation screening tests. The laboratory tests showed prolonged activated partial thromboplastin time and subsequently revealed the presence of lupus anticoagulant, anti-nuclear antibodies, and hypoprothrombinemia, leading to diagnosis of LAHPS. An enhanced computed tomogram demonstrated nodular lesions in the adrenal glands bilaterally, suggestive of adrenal haemorrhage. Laboratory and clinical manifestations exhibited life-threatening adrenal insufficiency that required hydrocortisone administration. The patient developed systemic lupus erythematosus, diagnosed 12 months later. Conclusions This patient with LAHPS developed rare adrenal failure due to adrenal haemorrhage, a life-threatening event that should be recognized and treated early. In our case, renal dysfunction was also observed when systemic lupus erythematosus was diagnosed 1 year after LAHPS. Our case emphasizes that early recognition of adrenal failure and careful long-term observation is required in patients with autoantibodies.

Problems in Diagnosis of Addison’s Disease and its Misdiagnosis as Chronic Kidney Disease (CKD): A Case Report

Introduction: Chronic kidney disease (CKD) rarely occurs at the same time as endocrine diseases such as adrenal failure. There are some reports of cases with acute kidney failure accompanied by Addison’s disease and adrenal crisis. The studied case was a patient with Addison’s disease referring with manifestations of AKI on CKD and hyperkalemia without hypotension. Case Presentation: This report describes a 34-year-old man with the primary diagnosis of CKD and the subsequent diagnosis of Addison’s disease. Conclusions: Since renal failure is accompanied by hyperkalemia, the diagnosis of adrenal failure will be difficult in the case of no obvious hyponatremia and hypotension. Thus, it is necessary to carefully check the clinical and laboratory symptoms and high clinical suspicions in CKD patients.

Residual adrenal function in Addison’s disease

Over the last ten years, evidence has accumulated that autoimmune Addison’s disease (AAD) is a heterogeneous disease. Residual adrenal function, characterised by persistent secretion of cortisol, other glucocorticoids and mineralocorticoids is present in around 30% of patients with established AAD, and appears commoner in men. This persistent steroidogenesis is present in some patients with AAD for more than 20 years, but it is commoner in people with shorter disease duration. The clinical significance of residual adrenal function is not fully clear at the moment, but as it signifies an intact adrenocortical stem cell population, it opens up the possibility of regeneration of adrenal steroidogenesis and improvement in adrenal failure for some patients.

Triple A syndrome: a case report

Triple A syndrome is a rare autosomal recessive disorder characterised by alacrimia, achalasia and adrenal failure. It was first reported by Allgrove in 1978 and 100 cases have been reported worldwide. This case report concerns a 24-year-old woman who was referred for evaluation of dysphagia and was finally diagnosed as such a case. A high degree of suspicion enables all the components of this syndrome to be searched for, as early diagnosis can reduce the morbidity and mortality.

Lupus Anticoagulant Hypoprothrombinemia Syndrome Associated with Bilateral Adrenal Hemorrhage in a Child: Early Diagnosis and Intervention

Background: Lupus anticoagulant-hypoprothrombinemia syndrome (LAHPS) is characterized by bleeding and thrombosis in patients, usually associated with autoimmunity or infections. Pediatric LAHPS exhibits various degrees of bleeding, ranging from mild to severe; however, adrenal hemorrhage due to LAHPS and its long-term clinical course have not been sufficiently described. Case presentation: A 9‐year‐old boy presented with prolonged abdominal pain and abnormal coagulation screening tests. The laboratory tests showed prolonged activated partial thromboplastin time and subsequently revealed the presence of lupus anticoagulant, anti-nuclear antibodies, and hypoprothrombinemia, leading to diagnosis of LAHPS. An enhanced computed tomogram demonstrated nodular lesions in the adrenal glands bilaterally, suggestive of adrenal hemorrhage. Laboratory and clinical manifestations exhibited life-threatening adrenal insufficiency that required hydrocortisone administration. The patient developed systemic lupus erythematosus, diagnosed 12 months later. Conclusions: The patient with LAHPS developed rare adrenal failure due to adrenal hemorrhage, a life-threatening event that should be recognized and treated early. In our case, renal dysfunction was also observed when systemic lupus erythematosus was diagnosed one year after LAHPS. Our case emphasizes that early recognition of adrenal failure and careful observation for patients with autoantibodies are required.