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Open access

N Viola, C Urbani, M Cosottini, A Abruzzese, L Manetti, G Cosentino, G Marconcini, C Marcocci, F Bogazzi, and I Lupi

Summary

Pituitary apoplexy (PA) is a medical emergency with complex diagnosis and management. In this study, we describe a case of PA in a 63-year-old male treated with oral anticoagulant therapy for atrial fibrillation. In the patient, PA manifested itself with asthenia and severe headache not responsive to common analgesics. Despite the finding of a pituitary mass through CT, and in anticipation of the endocrinological evaluation and pituitary MRI, the patient’s clinical condition worsened with an escalation of headache and asthenia associated with deterioration of the visual field and impairment of consciousness level. The emergency assessments revealed an adrenal failure, whereas MRI showed a haemorrhagic pituitary macroadenoma with compression of the optic chiasm. Intravenous fluids repletion and high-dose hydrocortisone were started with a rapid improvement of the patient’s health and visual field abnormalities. Hydrocortisone was gradually reduced to a replacement dose. During the follow-up, panhypopituitarism was documented, and replacement therapies with l-thyroxine and testosterone were introduced. Three months later, a pituitary MRI showed a 50% reduction in the pituitary adenoma volume.

Learning points

  • Pituitary apoplexy (PA) is a medical emergency that can result in haemodynamic instability and abnormalities in the level of consciousness.

  • The management of PA requires a multidisciplinary team that includes endocrinologists, ophthalmologists, neuro-radiologists, and neuro-surgeons.

  • Pituitary MRI with gadolinium is the diagnostic gold standard for PA.

  • PA therapy aims to improve general conditions and treat compression symptoms, especially visual field abnormalities.

  • Adrenocorticotrophic hormone deficiency is a common and severe complication of PA. Thus, all patients with PA must be promptly treated with injective synthetic glucocorticoids (e.g. hydrocortisone 100 mg) and i.v. saline.

  • PA must be taken into consideration in case of sudden headache in patients with a pituitary macroadenoma, especially if other risk factors are recognized.

Open access

Wanling Zeng, Sophie Tan, and Thomas Frederick James King

Summary

We report a case of subacute thyroiditis in a 40-year-old female who initially presented with painful thyroid nodules without clinical and biochemical evidence of hyperthyroidism. Thyroid ultrasound was done to evaluate the thyroid nodules and fine-needle aspiration (FNA) was performed in view of the suspicious features. As the FNA showed a follicular lesion of undetermined significance or atypia of undetermined significance (FLUS/AUS, Bethesda III), she was advised for surgical excision. She was subsequently diagnosed with subacute thyroiditis based on her clinical symptoms, biochemical evidence of hyperthyroidism, raised erythrocyte sedimentation rate (ESR) as well as low uptake on thyroid scintigraphy. The thyroid lesions disappeared after symptomatic treatment. It is important to recognise that subacute thyroiditis can present with painful thyroid lesions with ultrasound features similar to suspicious thyroid nodules which can resolve with the resolution of the thyroiditis.

Learning points

  • Subacute thyroiditis can present with atypical features such as the absence of pain, normal erythrocyte sedimentation rate or absence of hyperthyroidism.

  • In subacute thyroiditis, ultrasound findings are commonly described as focal or multifocal lesions with poorly defined and heterogeneous and hypoechoic echogenicity which can be misdiagnosed as malignancy.

  • Thyroid lesions can resolve with the resolution of thyroiditis with or without symptomatic treatment.

Open access

E Nauwynck, J Vanbesien, J De Schepper, I Gies, A Van Leynseele, E De Wachter, B Hauser, and W Staels

Summary

Vitamin D intoxication in children is rare but its incidence is increasing as vitamin D is supplemented more often and in higher doses. Children with cystic fibrosis (CF) are at risk for vitamin D intoxication due to incorrect compounded preparations of liposoluble vitamins. Here, we report a severe vitamin D intoxication in a 4-year-old girl with CF, due to an error in the compounded vitamin A, D, E, and K preparation, presenting clinically with weight loss, constipation, polydipsia, polyuria, and nycturia. The administered compounded preparation contained 10 000-fold the prescribed vitamin D dose. The patient was treated with hyperhydration, loop diuretics, and bisphosphonates. Serum calcium levels normalized after 4 days but serum 25-hydroxyvitamin D levels remained elevated even up to 2 months after treatment.

Learning points

  • Vitamin D intoxication should be ruled out when patients with cystic fibrosis (CF) present with acute polyuria, constipation, and weight loss.

  • Prompt treatment is necessary to avert life-threatening complications.

  • Regularly measuring serum calcium and 25-hydroxyvitamin D concentrations in children with CF receiving vitamin A, D, E, and K supplements is important during their follow-up.

Open access

Ray Wang, Benjamin Solomon, Stephen J Luen, Owen W.J. Prall, Christine Khoo, Anthony J Gill, Jeremy Lewin, and Nirupa Sachithanandan

Summary

Adrenocortical carcinoma is a rare disease with poor prognosis whose clinical heterogeneity can at times present a challenge to accurate and timely diagnosis. We present the case of a patient who presented with extensive pulmonary lesions, mediastinal and hilar lymphadenopathy and an adrenal mass in whom the oncological diagnosis was initially uncertain. Through the use of immunohistochemistry, biochemistry and genomic testing, an accurate diagnosis of adrenocortical carcinoma was ultimately made which resulted in more directed treatment being administered. The use of multidisciplinary input and genomics to aid in diagnosis and prognosis of adrenocortical carcinoma is discussed.

Learning points

  • Adrenocortical carcinomas can present a diagnostic challenge to clinicians given it is a rare malignancy with significant clinical heterogeneity.

  • Specialist multidisciplinary team input is vital in the diagnosis and management of adrenocortical carcinomas.

  • Hormonal testing is recommended in the diagnostic workup of adrenal masses, even in the absence of overt clinical signs/symptoms of hormone excess.

  • Immunostaining for the highly sensitive and specific steroidogenic factor-1 is vital for accurate diagnosis.

  • Genomics can provide prognostic utility in management of adrenocortical carcinoma.

Open access

Alexandra Stephenson, Zoya Punjwani, Markus Eszlinger, Beata Sawicka, Artur Bossowski, and Ralf Paschke

Summary

Familial nonautoimmune hyperthyroidism (FNAH) is rare and occurs due to a constitutively activating thyroid-stimulating hormone receptor (TSHR) germline mutation. Forty-one families with FNAH have been reported so far. In the study, 17 of 41 families were not diagnosed with FNAH until three generations or more were described with hyperthyroidism. We report a case of FNAH diagnosed in the third generation. The index patient was diagnosed with hyperthyroidism at age 3. Large fluctuations in thyroid hormone levels occurred during anti-thyroid drug treatment, and he developed a goiter. The patient’s mother had similar history, requiring two surgical interventions and radioiodine treatment. The younger brother of the index patient did not experience large thyroid hormone level fluctuations, nor increased thyroid growth. A heterozygous TSHR c.1357A>G mutation, resulting in a M453V amino acid exchange, was detected in all three patients leading to FNAH diagnosis, with complete genotype–phenotype segregation. Based on Sorting intolerant from tolerant (SIFT) and PolyPhen2 scores of 0.01 and 0.99, respectively, an effect on protein function can be assumed. As illustrated by this family with FNAH, total thyr oidectomy is necessary for patients with nonautoimmune hyperthyroidism. Development of goiter is common, anti-thyroid drug treatment is often difficult, and remission of hyperthyroidism does not occur after discontinuation of anti-thyroid drug treatment. Thus, early diagnosis and appropriate treatment of FNAH is necessary to avoid predictable, unnecessary complications and further surgical interventions.

Learning points

  • In the study, 19/42 cases of familial nonautoimmune hyperthyroidism (FNAH), including the reported case, were not diagnosed as FNAH until the third generation; this lead to suboptimal treatment and frequent relapses of nonautoimmune hyperthyroidism (NAH).

  • Detection of thyroid-stimulating hormone receptor (TSHR) mutations in patients with suspected FNAH to confirm diagnosis is essential to ensure proper treatment for the patient and further affected family members.

  • NAH will persist without proper treatment by total thyroidectomy.

  • Symptoms and age of onset may vary between family members

  • All family members with a TSHR germline mutation should be monitored with thyroid-stimulating hormone and for symptoms throughout their lives.

Open access

Vishal Navani, James F Lynam, Steven Smith, Christine J O’Neill, and Christopher W Rowe

Summary

We report concurrent metastatic prostatic adenocarcinoma (PC) and functioning androgen-secreting adrenocortical carcinoma (ACC) in a 77-year-old man. The failure to achieve adequate biochemical castration via androgen deprivation therapy (ADT) as treatment for PC metastases, together with elevated DHEA-S, androstenedione, and discordant adrenal tracer uptake on FDG-PET and PSMA-PET, suggested the presence of a concurrent functional primary adrenal malignancy. On histopathological analysis, scant foci of PC were present throughout the ACC specimen. Castration was achieved post adrenalectomy with concurrent drop in prostate-specific antigen. We outline the literature regarding failure of testosterone suppression on ADT and salient points regarding diagnostic workup of functioning adrenal malignancies.

Learning points

  • Failure to achieve castration with androgen deprivation therapy is rare and should prompt careful review to identify the underlying cause.

  • All adrenal lesions should be evaluated for hormone production, as well as assessed for risk of malignancy (either primary or secondary).

  • Adrenocortical carcinomas are commonly functional, and can secrete steroid hormones or their precursors (androgens, progestogens, glucocorticoids and mineralocorticoids).

  • In this case, a co-incident, androgen-producing adrenocortical carcinoma was the cause of failure of testosterone suppression from androgen deprivation therapy as treatment for metastatic prostate cancer. Pathological adrenal androgen production contributed to the progression of prostate cancer.

Open access

Michail Katsamakas, Eleni Tzitzili, Maria Boudina, Anastasia Kiziridou, Rosalia Valeri, Georgios Zafeiriou, and Alexandra Chrisoulidou

Summary

We present two cases of thyroid sarcoidosis that were misdiagnosed as thyroid cancer. In the first patient, fine needle aspiration cytology (FNAc) of a suspicious thyroid nodule indicated the presence of papillary thyroid cancer, and the patient underwent thyroid surgery. However, histopathology identified a sarcoid granuloma, without any sign of malignancy. The second patient had a history of papillary microcarcinoma with suspicious lymph nodes diagnosed years after the initial diagnosis and was referred for assessment of cervical lymphadenopathy. Fine needle aspiration cytology (FNAc) of the suspicious lymph nodes erroneously indicated metastasis from thyroid cancer, and lateral modified lymph node dissection was performed, based on FNAc and ultrasonographic features. Histopathology excluded malignancy and identified non-caseating granulomas. Sarcoidosis of the thyroid may have a clinical presentation similar to well-differentiated thyroid carcinoma and, although rare, should be considered in the differential diagnosis, especially when other signs of the disease are already present. In these cases, FNAc provided a false diagnosis of papillary thyroid carcinoma and lymph node metastases that led to unnecessary surgery.

Learning points

  • Sarcoidosis may share clinical and ultrasonographic features with papillary thyroid carcinoma.

  • Fine needle aspiration cytology is helpful in the diagnosis of both conditions; however, the overlapping cytological characteristics may lead to erroneous diagnosis.

  • The present cases illustrate the importance of cytological identification of these difficult cases. Every piece of information provided by the clinician is essential to the cytologist.

Open access

Samson O Oyibo, Olivia S Green, Nabeel M Laliwala, and Satyanarayana V Sagi

Summary

Hypothyroidism occurring in the postpartum period can be due to pituitary or hypothalamic disease as in Sheehan’s syndrome and postpartum autoimmune hypophysitis or due to a primary thyroid disease as in postpartum thyroiditis. It is important that the correct diagnosis is ascertained because hypothalamic or pituitary disorders are often associated with other pituitary hormone deficiencies, especially life-threatening adrenal insufficiency or adrenal crisis. A combination of various symptoms and biochemical markers, especially serum thyroid-stimulating hormone levels dictate the initial diagnostic pathway. We present a case of a woman who presented with a 2-month history of tiredness and neck discomfort following delivery. A thyroid function test demonstrated results, which we initially interpreted as central hypothyroidism. Follow-up results indicated that this was in fact the transition period between the thyrotoxic phase and hypothyroid phases of postpartum thyroiditis. This case highlights the potential for diagnostic confusion between central hypothyroidism and postpartum thyroiditis.

Learning points

  • Postpartum thyroiditis affects one in twenty mothers within 12 months of delivery.

  • The majority of patients have transient thyrotoxicosis only, some have transient hypothyroidism only, and the rest has a triphasic pattern (thyrotoxic, hypothyroid then a euthyroid phase).

  • During the transition from the thyrotoxic phase to hypothyroid phase, when serum TSH is still suppressed, the biochemical results can resemble that of central hypothyroidism.

  • If central hypothyroidism is suspected, then urgent diagnostic investigations should be carried out along with the assessment of adrenal function.

  • There is a potential for diagnostic confusion between postpartum central hypothyroidism and postpartum thyroiditis; however, the obstetric history, clinical symptoms, and signs (headaches, breastfeeding, goitre, etc.) and serum adrenocorticotropic levels should help with the differential diagnosis.

Open access

Nobuyuki Nishi, Ken Takeshima, Shuhei Morita, Hiroshi Iwakura, Masahiro Nishi, and Takaaki Matsuoka

Summary

IgG4-related hypophysitis is an autoimmune hypophysitis associated with IgG4-related disease. Swelling of the pituitary gland is responsive to steroid therapy, but the prognosis of pituitary function after the treatment remains unclear. The present case implies that transiently improved pituitary function can re-worsen during long-term follow-up in IgG4-related hypophysitis. A 71-year-old male patient with IgG4-related hypophysitis visited a nearby hospital with malaise, anorexia, and polyuria. Pituitary dysfunction was suspected, so he was referred to our hospital for further examination. Imaging studies and laboratory data showed swelling of the pituitary gland and panhypopituitarism, which dramatically improved following steroid therapy. There was no evidence of relapsing IgG4-related disease during prednisolone tapering. Pituitary function was examined after 4 years under treatment with low-dose prednisolone; surprisingly, anterior pituitary function had worsened again. Our case suggests a need for continuous monitoring of pituitary function after steroid therapy for IgG4-related hypophysitis. This report illustrates the natural course of pituitary function in IgG4-related hypophysitis and may be informative when considering the introduction of steroid therapy.

Learning points

  • Steroid therapy is an effective first-line therapy for pituitary dysfunction and pituitary swelling in IgG4-related hypophysitis.

  • Pituitary function can worsen again during follow-up, despite transient improvement after steroid therapy in IgG4-related hypophysitis.

  • Continuous monitoring of pituitary function is necessary for IgG4-related hypophysitis, regardless of disease activity.

Open access

Andrea del Toro-Diez, Ernesto Solá-Sánchez, and Michelle Mangual-García

Summary

Primary hypothyroidism is one of the most common endocrine disorders with widely available treatment. A minority of patients remain with uncontrolled hypothyroidism despite therapy. The objective of this case series was to demonstrate that medication non-adherence, rather than malabsorption, should be sought as the most common cause of unsuppressed TSH levels in patients receiving treatment for this condition. Non-adherence is often considered as a diagnosis of exclusion. Nonetheless, a diagnosis of malabsorption requires a more extensive workup, including imaging and invasive procedures, which increase healthcare costs and burden to the patient. The findings of this study allow for a cost-effective approach to uncontrolled hypothyroidism.

Learning points

  • Medication non-adherence is a common cause of insuppressible TSH levels.

  • Once weekly levothyroxine is an alternative approach to non-compliant patients.

  • Assessing compliance is more cost-effective and less burdensome than testing for malabsorption.