Sheehan's syndrome with pancytopenia: a case report and review of the literature

<p>Abstract</p> <p>Introduction</p> <p>Sheehan's syndrome is defined by varying degrees of anterior pituitary deficiency due to postpartum ischemic necrosis of the pituitary gland after massive bleeding. It is a rare disorder in western countries and even in Tunisia. Hematologic abnormalities such as normochromic anemia have been reported in these patients. However, pancytopenia is rarely observed.</p> <p>Case presentation</p> <p>We describe the case of a 48-year-old Tunisian woman with features of hypopituitarism. Laboratory tests showed pancytopenia that was completely reversed after adequate hormone replacement.</p> <p>Conclusion</p> <p>Clinicians should consider the possibility of hypopituitarism as a cause of pancytopenia. This is an original case report that is of interest to hematologists, who should be aware of Sheehan's syndrome as a treatable etiology of pancytopenia for women.</p

Adrenocortical Secreting Mass in a Patient with Gardner's Syndrome: A Case Report

Gardner's syndrome (GS) is a dysplasia characterized by neoformations of the intestine, soft tissue, and osseous tissue. Endocrine neoplasms have occasionally been reported in association with GS. Adrenal masses in GS are rare, and few have displayed clinical manifestations. In the current paper, The authors report a 37-year-old male patient with GS including familial adenomatous polyposis (FAP) and mandible osteoma who presented with an incidental adrenal mass. Computerized tomography adrenal scan identified bilateral masses. Functional analyses showed a hormonal secretion pattern consistent with pre-Cushing's syndrome. Other extraintestinal manifestations were hypertrophy of the pigmented layer of the retina and histiocytofibroma in the right leg. This paper describes a rare association of adrenocortical secreting mass in an old male patient with Gardner syndrome

Warthin-like papillary thyroid carcinoma: a case report and comprehensive review of the literature

BackgroundPapillary Thyroid Carcinoma (PTC) is the most frequent endocrine malignancy with a variety of histological presentations. Warthin-like Papillary Thyroid Carcinoma (WLPTC) is an uncommon neoplasm that is recognized as a distinct subtype of PTC in the WHO classification of thyroid tumors. In this report, we present a novel case of WLPTC in a female patient and provide an in-depth review of the available literature on its clinical, pathological, and therapeutic characteristics.Case presentationA 27-year-old female patient was referred for neck swelling. Ultrasound showed two suspicious thyroid nodules leading to a thyroidectomy. She was diagnosed with intermediate-risk bifocal foci of classic PTC and WLPTC, arising from a background of chronic lymphocytic thyroiditis (CLT). This pT1b(m) N1b M0 malignancy was treated with adjuvant isotopic ablation and suppressive thyroxine therapy. The 1-year outcomes were favorable.Literature reviewIt covered articles published from 1995 to 2022, by searching PubMed and Google Scholar using specific terms. Out of 148 articles reviewed by two authors, 25 relevant articles were selected, including 13 case reports and 12 case series. The study included 150 cases of WLPTC. Data related to clinical presentation, imaging, histological features, management, and outcomes, were extracted. The mean age of diagnosis was 39 years, with a female predominance. The most common clinical presentation was neck swelling. Thyroid autoimmunity was positive in 71.6% of patients. Lymph node metastases were present in 28% of cases, with no reported distant metastases. Overall, the outcomes were favorable.ConclusionWLPTC shares similar clinical and radiological presentations as classic PTC. The hallmark histological features of WLPTC are papillae lined with oncocytic tumor cells with papillary nuclear changes and lymphoid stroma. WLPTC is almost constantly associated with CLT. The management of WLPTC aligns with that of classic PTC with comparable stage and risk category, often resulting in favorable outcomes

Leydig Cell Tumor Associated with Testicular Adrenal Rest Tumors in a Patient with Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency

Congenital adrenal hyperplasia (CAH) describes a group of inherited autosomal recessive disorders characterized by enzyme defects in the steroidogenic pathways that lead to the biosynthesis of cortisol, aldosterone, and androgens. Chronic excessive adrenocorticotropic hormone (ACTH) stimulation may result in hyperplasia of ACTH-sensitive tissues in adrenal glands and other sites such as the testes, causing testicular masses known as testicular adrenal rest tumors (TARTs). Leydig cell tumors (LCTs) are make up a very small number of all testicular tumors and can be difficult to distinguish from TARTs. This distinction is interesting because LCTs and TARTs require different therapeutic approaches. Hereby, we present an unusual case of a 19-year-old patient with CAH due to 11β-hydroxylase deficiency, who presented with TARTs and an epididymal Leydig cell tumor

The primary empty Sella: An endocrine study on 36 cases

Introduction: The term primary empty sella (PES) makes reference to the herniation of the subarachnoid space within the sella turcica in patients with no history of pituitary tumor, surgery or radiotherapy. Materials and Methods: We studied 36 patients; 27 females and 9 males. The mean age at diagnosis was 50, 4 years [21-80 years]. Most diagnoses were made by magnetic resonance imaging (n = 32). The anterior pituitary function was evaluated by basal hormonal measurements. Then, we had compared two groups of patients: G1(n=17), who had a pituitary disorder, and G2 (n=10), patients without hormonal disease, in order to determine risk factors for endocrine dysregulation in PES. Results: The reasons for ordering pituitary scans were: headaches (65%), visual disturbances (32%) and neurological symptoms in 8% of cases. Sixty-six point five per cent of women were multiparous. Diabetes, obesity and hypertension were found in 19.45 %, 11 % and 19.45 % of the studied population respectively. Hyperprolactinemia was present in 17.24 % of patients. Fifty-five percent of our patients had some degree of hypopituitarism. We didn’t find any correlation in our study, between pituitary insufficiency and age, gender, weight, parity nor post-partum hemorrhage. Failure of lactation was significantly associated with a hormonal disorder. On the other hand, headache was negatively correlated with hormonal effects in PES. Conclusion: PES was most commonly found in middle-aged multiparous women. In most patients, PES is a heterogeneous condition that ranges from hypopituitarism to various degrees of isolated GH deficiency, and which needs careful endocrine assessment, treatment and follow-up

Hyperthyroidism: A rare cause of pulmonary embolism: Report of two cases

Several disorders of coagulation and fibrinolysis have been widely reported in patients with hyperthyroidism. Most reports have focused on only the venous thromboembolism risk, and few of them have studied specifically the association between hyperthyroidism and pulmonary embolism (PE). We report two cases of Graves′ disease complicated by PE. The first patient is a 32 year-old man, and the second patient is a 23-year-old female. PE was suspected on the basis of pulmonary hypertension in patient one, and clinical presentation in the other patient. The first patient had also right heart failure. PE was confirmed in both patients by a lung perfusion-ventilation scan test. Thrombophilia screen revealed normal findings in the first patient and an elevation in coagulation factor VIII in the second one. Both patients received heparin, followed by oral anticoagulant therapy. In addition, they were treated with radioactive iodine resulting in partial recovery from hyperthyroidismforpatient oneand clinical euthyroidism for patient two.The former died of acute heart failure secondary to a chest infection, while the later was lost to follow-up. In conclusion, hyperthyroidism is associated with increased risk of venous thromboembolism, including PE. Potential mechanisms involved in this association include endothelial dysfunction, decreased fibrinolytic activity, and increased coagulation factors levels. Thyroid evaluation is recommended in patients with unprovoked venous thromboembolic events. Conversely, the diagnosis of venous thromboembolism should be considered in patients with hyperthyroidism, particularly if additional prothrombotic risk factors are present

Analysis of ProP1 Gene in a Cohort of Tunisian Patients with Congenital Combined Pituitary Hormone Deficiency

Background: Non-syndromic combined pituitary hormone deficiency (CPHD) occurs due to defects in transcription factors that govern early pituitary development and the specification of hormone-producing cells. The most common mutations are in the Prophet of Pit-1 (ProP1) gene. This work aims to (1) report findings of genetic analyses of Tunisian patients with non-syndromic CPHD and (2) describe their phenotype patterns and their evolution through life. Methods: Fifteen patients from twelve unrelated families with variable clinical phenotypes were included after excluding autoimmune and acquired forms of non-syndromic CPHD. Detailed pedigree charts and auxological, hormonal, radiological, and therapeutic details were recorded. Sanger sequencing was performed, and sequences were analyzed with a specific focus on coding and splice site regions of the ProP1 gene. Retained variants were classified using several in silico pathogenicity prediction tools and the VarSome platform. Results: We identified the common p.Arg73Cys mutation in seven patients from four unrelated pedigrees. We found a novel homozygous mutation (c.340C&gt;T) in one sporadic case. This mutation generates a truncated ProP1 protein, predicted to be non-functional, lacking the last 112 codons (p.(Gln114Ter)). We confirmed by polymerase chain reaction (PCR) the absence of large exon deletions or insertions in the remaining sporadic patients (7/8). Conclusions: We report two mutations {one newly identified [p.(Gln114Ter)] and one previously reported (p.Arg73Cys)} in five unrelated Tunisian families with non-syndromic CPHD. This work is of clinical importance as it reports the high frequency of the p.Arg73Cys mutation in Tunisian CPHD families. Our study also illuminated the involvement of novel gene(s) in the emergence of non-syndromic CPHD