Case Reports in Endocrinology最新文献

Primary hyperparathyroidism (PHPT), whether caused by an adenoma or hyperplasia, can be curative with parathyroidectomy. However, persistently elevated parathyroid hormone (PTH) despite parathyroidectomy suggests multigland disease. We present a case of concurrent single-gland parathyroid hyperplasia and an ectopic parathyroid adenoma in a 72-year-old woman with long-standing PHPT. Despite persistently elevated calcium and PTH levels, all diagnostic imaging was negative for parathyroid hyperplasia and adenoma. PTH remained elevated despite initial parathyroidectomy for hypercellular tissue consistent with hyperplasia. An ectopic paraesophageal parathyroid adenoma was ultimately discovered and resected, resolving the PHPT. This case emphasizes that negative imaging does not exclude active parathyroid disease.

Objectives: Steroidogenic acute regulatory (StAR) protein deficiency is a rare autosomal recessive disorder that disrupts steroid hormone biosynthesis, resulting in congenital adrenal hyperplasia (CAH) and variations in sexual development. However, limited data is available in Saudi Arabia. Therefore, this study describes the clinical and genetic findings of seven Saudi patients with StAR deficiency.

Methods: This case series was conducted at King Faisal Specialist Hospital and Research Centre (KFSHRC) in Riyadh, Saudi Arabia.

Results: All seven patients were born to consanguineous parents, most commonly first cousins. Five patients had a 46,XY karyotype, and two had a 46,XX karyotype. All were clinically diagnosed with CAH due to StAR deficiency. Despite their chromosomal sex, all presented with a female external phenotype. Clinical features ranged from typical female genitalia to varying degrees of feminization with bilateral inguinal gonads or undescended testes in 46,XY individuals. Most patients exhibited electrolyte disturbances and chronic salt-wasting. Interestingly, two cases presented with neonatal cholestatic jaundice. Genetic testing confirmed homozygous pathogenic or likely pathogenic STAR variants in all cases. Dysmorphism occurred in one patient with (c.402T >G, p.Tyr134Ter) mutation. The five 46,XY patients underwent bilateral gonadectomy. All patients remain clinically stable on long-term steroid replacement.

Conclusion: This study highlights the diverse clinical spectrum of StAR deficiency, ranging from early adrenal crisis to DSD and atypical presentations such as cholestasis. The findings underscore the importance of early genetic diagnosis and counseling, particularly in consanguineous populations, and point to the need for continued research into the clinical and molecular complexity of StAR deficiency.

Background: Levothyroxine is a commonly prescribed medication for treatment of hypothyroidism in the United States. This drug is titrated based on weight and serial laboratory evaluation and is often very well tolerated with few adverse effects. Levothyroxine-associated liver injury and cholestatic disease are regarded as rare phenomena. We report an additional case of levothyroxine-associated hepatic dysfunction with resolution upon decreased dosage and continued tolerance of the medication.

Case presentation: We report a case of a 60-year-old male presenting for preoperative clearance for umbilical hernia repair with previous history of thyroidectomy for multinodular goiter. Laboratory work-up suggested thyrotoxicosis-associated hepatic dysfunction secondary to levothyroxine overtreatment with associated mixed hepatocellular and cholestatic pattern of injury. Extensive work-up failed to reveal other etiology of liver dysfunction and levothyroxine overtreatment was regarded as the likely cause. Complete resolution of the elevated hepatic enzymes occurred with decreased levothyroxine dosing and return of euthyroid state.

Conclusion: Although regarded as a rare phenomenon, levothyroxine use and drug-induced thyrotoxicosis should be considered as a possible etiology when evaluating hepatic dysfunction. This case highlights that levothyroxine may be safely continued following a dosing adjustment with noted resolution of hepatic enzyme abnormalities in certain clinical scenarios.

Introduction: The innate characteristics of the thyroid gland that resist infection render thyroid abscesses extremely uncommon. Moreover, gram-negative species, such as Salmonella spp., are a rare cause of thyroid abscess from hematogenous dissemination.

Case description: A 41-year-old postpartum, breastfeeding female developed neck swelling and dysphagia following gastroenteritis. Imaging revealed a thyroid abscess. Fine needle aspiration (FNA) identified purulent fluid positive for Salmonella spp. Although the patient was initially responsive to antibiotics, recurrent swelling, dysphagia, and transient thyrotoxicosis developed, requiring re-admission. Successful treatment included culture-specific antimicrobials, ultrasound (US)-guided needle drainage, and beta blockers, eliminating the need for surgical intervention.

Conclusion: This case highlights a unique Salmonella thyroid abscess from hematogenous spread of infection in an immunocompetent individual. While thyroid abscesses, particularly those caused by Salmonella spp., are rare, clinicians should maintain a broad differential diagnosis, especially following gastrointestinal illness. FNA with culturing, imaging, and targeted antimicrobial therapy is crucial for timely diagnosis and favorable outcomes.

Peritoneal inclusion cysts (PICs) are rare, benign, and fluid-filled lesions most commonly seen in women of reproductive age, typically associated with a history of abdominal surgery, trauma, or inflammatory conditions. Occurrence in males, especially without predisposing factors, is exceedingly uncommon and can pose significant diagnostic challenges due to their nonspecific clinical and radiological features. We report the case of a 19-year-old male who presented with chronic right lower quadrant abdominal pain persisting for 4 months. Initial sonography revealed an 80 × 50 mm cystic lesion between the liver and kidney, with subsequent imaging-including contrast-enhanced computed tomography and magnetic resonance imaging-suggesting an adrenal cyst. Functional and serological workups for adrenal and hydatid pathology were negative. Due to the lesion's size and persistent symptoms, surgical excision was performed. Intraoperatively, the cyst was found in the retroperitoneal space adjacent to, but not adherent to, the adrenal gland. Histopathological and immunohistochemical analyses confirmed the diagnosis of a PIC. The patient's postoperative recovery was uneventful. This case illustrates the diagnostic complexity of PICs in atypical patient populations. The lesion's radiological resemblance to adrenal or other retroperitoneal cystic masses led to initial misdiagnosis and extensive workup. Literature review reveals very few similar cases in males without prior surgery or inflammation. PICs should be considered in the differential diagnosis of cystic abdominal lesions, even in young males without typical risk factors. Accurate diagnosis relies on a combination of clinical assessment, imaging, and histopathological evaluation to ensure appropriate management.

Background: Hypophysitis is a rare inflammatory disorder of the pituitary gland that may result from primary autoimmune disease or secondary causes such as infection. In people living with HIV, coinfection with Treponema pallidum can precipitate pituitary inflammation, leading to panhypopituitarism, visual field compromise, and neurological symptoms.

Methods: Written informed consent was obtained from the patient, with all personal identifiers removed, in compliance with the CARE guidelines.

Presentation: A 50-year-old man with known HIV infection and a history of latent syphilis presented to the emergency department with headache, asthenia, adynamia, and visual decline. Laboratory evaluation demonstrated a positive rapid plasma reagin (RPR) test at 1:64, a CD4 count of 391 cells/µL, a viral load of 40,000 copies/mL, and biochemical evidence of panhypopituitarism. Ophthalmologic assessment revealed bitemporal hemianopia. Brain MRI identified a sellar mass compressing the optic chiasm, consistent with an infiltrative pituitary process. The patient was treated with intravenous penicillin and hormone replacement therapy. A follow-up MRI showed a reduction in pituitary size, and 1 month later he reported a resolution of neurological symptoms and a marked improvement in visual acuity.

Conclusions: The present description illustrates an uncommon manifestation of syphilis-related hypophysitis in an HIV-positive individual, managed successfully with antibiotics and hormonal supplementation. Although rarely reported in literature, syphilitic hypophysitis should be considered in HIV-infected patients presenting with endocrine deficits and visual field abnormalities. With rising rates of HIV-syphilis coinfection, clinicians may encounter this entity more frequently than previously appreciated.

Background: 21-hydroxylase deficiency (21-OHD) represents the most common form of congenital adrenal hyperplasia (CAH) caused by pathogenic variants in the CYP21A2 gene. To date the molecular analysis of the CYP21A2 gene is based on the selective CYP21A2 gene amplification followed by Sanger sequencing. Herein we present the clinical manifestations, hormonal profile, and application of different molecular strategies to accurately investigate the CYP21A2 gene in a newborn presenting with the salt wasting (SW) form of CAH.

Methods: The patient, his parents, and the paternal grandparents underwent CYP21A2 genotyping employing Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA). Furthermore, the patient and his parents underwent a more extended protocol to determine the location of the pathogenic variants identified.

Results: The newborn carried three CYP21A2 gene copies (two paternal and one maternal), each of them harboring a pathogenic variant, which is in concordance with the clinical manifestations of the SW form of CAH.

Conclusion: The molecular investigation of the proband presenting with the SW form of CAH revealed a complex genotype that could only be determined by employing different molecular strategies. Laboratories should be aware of the possibility of complex genotypes in the CYP21A2 gene and employ different protocols to avoid the possibility of a genetic misdiagnosis.

We described new forms of thyroglobulin gene (TG) mutation resulting in fetal goiter and congenital hypothyroidism in a pendred syndrome (PS) patient. Fetal hypothyroidism was diagnosed, based on ultrasonographic evidence of goiter alongside with fetal blood measurement of TSH (>100 mIU/L); levothyroxine intrauterine treatment was performed. At birth, ultrasound thyroid enlargement and primary hypothyroidism were confirmed. On Day 11, hearing screening using a combination of otoacoustic emissions and auditory brainstem response revealed profound bilateral sensorineural deafness. Genetic analysis revealed TG variants [c.727C>T,p.(Àrg243Trp) and c.67l8G>T,p.(Glu2240Stop) in heterozygosis. Mutation c.164+1delG,p.(Ser55Ilefs⁣ ^∗ 11) in homozygosis of the SLC26A4 gene was also detected. The extension of the analysis to the patient's parents revealed the presence of the heterozygous variant in the SLC26A4 gene [c.164+1delG] and in the TG gene [c.727C>T] in the father, and the heterozygous variant in the SLC26A4 gene [c.164+1delG] and in the TG gene [c.6718G>T] in the mother. This is the first report associating mutations in TG with a PS patient. The combination of genetic factors likely contributed to the patient's clinical conditions, which included fetal goiter with CH and profound bilateral hearing loss, representing a rare instance of mutations linked to inherited thyroid disorders.

Giant functional parathyroid cysts (PCs) are extremely rare and can present significant diagnostic challenges. We report a case of a 31-year-old woman with primary hyperparathyroidism (PHPT) due to a giant PC, which presented with biochemical features of hyperparathyroidism, compressive symptoms in the neck structures, and a unique ultrasonographic "snowstorm" pattern, mimicking thyroid pathology. Diagnosis was confirmed postoperatively by histopathology. This case highlights the importance of including PCs in the differential diagnosis of cystic neck masses, particularly when biochemical and imaging findings are discordant.

A wide spectrum of clinical entities can lead to pre and postmenopausal hyperandrogenism, which is characterized by slow or more rapid onset of virilizing symptoms (menstrual irregularities, hirsutism, androgenetic alopecia). Functional hyperandrogenism in the context of polycystic ovary syndrome (PCOS) remains the most prevalent cause for hyperandrogenism both in pre and postmenopausal females; however, other clinical entities such as ovarian hyperthecosis and benign or malignant neoplasms (e.g., adrenal androgen-secreting adenomas and ovarian tumors of androgen-secreting cells) are often challenging to diagnose. Laboratory testing should include measurement of testosterone, sex hormone binding globulin (SHBG), gonadotropins, estradiol, androstenedione, dehydroepiandrosterone sulfate (DHEA-S), and 17-OH-progesterone values, as well as markers of other endocrine disorders leading to secondary hyperandrogenism, especially Cushing's syndrome. Testosterone values of more than 150 ng/dL generally require further investigation, and increased DHEA-S (more than 700 μg/dL) is suggestive of adrenal androgen-secreting tumors. Androgen suppression during prolonged dexamethasone test can facilitate differential diagnosis between adrenal and ovarian androgen excess production and point to autonomous production in case of tumors. In case of smaller ovarian tumors (e.g., Leydig cell), imaging might not be diagnostic, so that in case of high clinical suspicion, selective ovarian catheterization can be a valuable tool, when available. In this paper, we highlight four rare conditions of hyperandrogenism beyond PCOS, each reflecting specific stages or challenges across the female lifespan. We suggest that detailed biochemical testing and high clinical suspicion should promptly lead to valuable invasive diagnostic tools (ovarian catheterization/laparoscopy) in case imaging is not diagnostic.