The domestic dog has emerged as a valuable model for investigating the biology of social behavior and neuropsychiatric disease, yet a comprehensive map of gene regulatory elements across the canine brain is still lacking. Here, we generated an ATAC-seq atlas spanning seven major brain regions and the pituitary gland from four adult beagle dogs. We identified 251,492 putative cis-regulatory elements (CREs) and found that chromatin accessibility profiles resolve anatomically distinct regions into discrete regulatory modules, including striatal, cortical-associated, hypothalamic/habenular, and pituitary groups. Region-specific accessible elements were enriched predominantly in distal non-coding regions and were associated with distinct transcription factor (TF) programs and biological functions. Integration with dog-wolf genetic differentiation signals identified tissue-specific CREs overlapping highly differentiated genomic regions, including loci linked to neuronal and neuroendocrine pathways. Cross-species integration of human Genome-Wide Association Study data further indicated that canine cortical-associated chromatin features and striatal-enriched chromatin signatures, along with genes linked to such CREs, exhibit enrichment for schizophrenia (SCZ) and bipolar disorder (BD) risk signals. Together, these findings delineate the regional cis-regulatory landscape of the canine brain and support the dog as a translational model for studying the regulatory basis of neuropsychiatric disease.

A 10-year, 8-month-old male presented with polyuria, polydipsia, and secondary nocturnal enuresis for 4 months following a severe headache. Initial fasting studies raised concern for partial arginine vasopressin deficiency (AVP-D). Brain magnetic resonance imaging revealed a possible pituitary adenoma vs artifact. His height was >99th percentile; he was prepubertal and growth charts demonstrated growth velocity >7.5 cm/year for the past 2 years. Additional testing showed markedly elevated IGF-1 and IGF-binding protein 3. He passed a water-deprivation test, ruling out AVP-D. He underwent a GH suppression test that revealed no suppression, suggesting GH excess. Repeat magnetic resonance imaging delineated a cystic pituitary lesion, most consistent with Rathke cleft cyst or hemorrhagic adenoma. Surgery was not recommended because the hematoma obscured visualization of any underlying tumor and evacuation could result in indiscriminate removal of the native gland. Serial imaging demonstrated continued retraction of the hematoma and tumor complex over 10 months. His AVP-D resolved, growth velocity slowed, and growth factors normalized over 13 months without intervention. Tall stature with increased growth velocity in prepubertal children should raise concern for GH excess. GH excess secondary to GH-secreting pituitary adenomas may spontaneously resolve if pituitary apoplexy occurs.

Catheter-related bloodstream infections (CRBSIs) caused by Brevundimonas diminuta are rare, and polymicrobial infections involving this organism are exceptionally uncommon. To the best of our knowledge, we describe the first reported case of polymicrobial CRBSI caused by B. diminuta and Streptococcus anginosus in a woman with a pituitary gland tumor and intracranial hypertension who was receiving intravenous treatment through an indwelling peripherally inserted central catheter (PICC). The patient made a full clinical recovery after prompt PICC removal and intravenous piperacillin-tazobactam therapy. This case emphasizes the emerging clinical significance of B. diminuta and S. anginosus as potential causes of polymicrobial bloodstream infection in patients with indwelling central venous catheters and underlines the need to consider uncommon environmental Gram-negative organisms in catheter-related infection.

Silent corticotroph adenomas (SCAs) and silent gonadotroph adenomas (SGAs) are subtypes of non-functioning pituitary adenomas (NFPAs).However, studies comparing SCAs and SGAs are scarce, and their differences in clinical features, behavior, and prognosis are not well understood. This retrospective cohort study included 603 NFPA patients (188 SCAs, 415 SGAs) who underwent surgery at Beijing Tiantan Hospital between 2020 and 2025. Data were collected to compare features between groups, and Cox models identified predictors of postoperative radiological progression/recurrence. A nomogram was developed and evaluated using ROC, calibration, and decision curve analysis. SCAs were more common in younger women, while SGAs predominated in men. SCAs had larger tumor size (29.7 ± 10.8 mm vs. 27.9 ± 9.3 mm, P = 0.043), more cavernous sinus invasion (69% vs. 41%, P < 0.001), and more intratumoral hemorrhage (10.1% vs. 2.9%, P < 0.001) compared to SGAs, but a lower gross total resection rate (GTR) (86.7% vs. 92.5%, P = 0.022). Postoperative venous thromboembolism (VTE) was more frequent in SCAs (16% vs. 9.6%, P = 0.025). Multivariate Cox analysis identified distinct recurrence predictors: for SCAs, younger age, recurrent tumors, subtotal resection, and firm consistency increased recurrence risk; for SGAs, larger tumor size, subtotal resection, firm consistency, and Ki-67 ≥ 3% were predictive. The nomograms showed good apparent discrimination, and bootstrap internal validation demonstrated that both models retained good discriminative ability after correction for optimism. The AUCs for 2- and 4-year radiological progression/recurrence prediction were 0.934 and 0.914 for SCAs, and 0.898 and 0.882 for SGAs, respectively. Calibration and decision curve analyses suggested acceptable model performance within this cohort; however, external validation is required before clinical application. SCAs and SGAs differ in demographics, tumor behavior, and postoperative outcomes. SCAs are more invasive with lower GTR and higher VTE risk, while SGAs are firmer and more likely to cause pituitary dysfunction. The recurrence model supports individualized follow-up and early identification of high-risk patients.

Sheehan's syndrome is caused by ischemic necrosis of the pituitary gland following hypo-perfusion to the pituitary gland. The prevalence is around 3.2% in women <40 years of age and is relatively common in developing countries. The diagnosis is made with the help of a suggestive obstetric history, clinical manifestations, laboratory findings of reduced hormone levels, and pertinent radiological features. The treatment is to replace the patient with deficient hormones and prevent the complications associated with it. We present the management of a patient with Sheehan's syndrome with pertrochanteric fracture due to the rarity of its presentation. The patient underwent the insertion of a proximal femur nail under closed reduction and achieved optimum results post operatively. As such no case reports with these findings have been documented in the literature or online sources.

The hypothalamic-pituitary-adrenal (HPA) axis is the central neuroendocrine system that controls physiological stress responses and maintains homeostasis through the coordinated interactions among the hypothalamus, pituitary gland, and adrenal cortex. Dysregulation of the HPA axis is associated with stress-related psychiatric conditions and neurodegenerative diseases, including Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis. Chronic stress creates a detrimental environment in the brain, inducing structural changes and accelerating brain aging and the loss of neurons. Receptor tyrosine-protein kinase ERBB4 (ERBB4), a member of the epidermal growth factor receptor (EGFR) family, is activated primarily by neuregulin ligands and plays an essential role in neuronal development, synaptic plasticity, and cell survival. Emerging evidence suggests that ERBB4 signaling influences neuroendocrine regulation and stress responsivity. While further studies are needed to provide direct mechanistic evidence linking ERBB4-mediated HPA axis dysregulation to neurodegenerative cell death, this manuscript critically evaluated the preclinical models and proposes a possible feed-forward framework wherein ERBB4 served as a permissive homeostatic modulator at the intersection of stress endocrinology and neuroinflammation. Furthermore, the impact of ERBB4 dysregulation and its mutations on neurodegenerative diseases has been presented, focusing on potential mechanisms of oxidative stress, synaptic dysfunction, and neuronal apoptosis. Taken together, ERBB4 represents an important molecular interface between stress signaling and neurodegenerative pathology. Understanding the regulation of ERBB4 in the HPA axis has provided new insights into the mechanisms underlying neurodegenerative diseases and could identify novel therapeutic targets for stress-associated neurological disorders.

Prader-Willi syndrome (PWS) is a complex genetic disorder resulting from the deficiency of several maternally imprinted genes, including SNORD116, in the 15q11-q13 region. Loss of Snord116 in mice recapitulates some of the most salient clinical features of PWS, including growth hormone (GH) deficiency and hypogonadism. This study explored the impact of Snord116 deficiency on early postnatal pituitary development and growth in Snord116-KO mice. Snord116 was found to be expressed in both the anterior and posterior pituitary. Pituitary transcriptomes of Snord116-KO and WT mice at 2 developmental stages, P0 and 4 weeks of age, were interrogated and related to ex vivo analyses of GH secretion in the pituitaries of 5-week-old mice. Significant differences in pituitary transcriptomes were detected between Snord116-KO and WT mice at 4 weeks of age but not at P0. The differentially expressed genes and affected molecular pathways play important roles in regulating embryonic and postnatal pituitary development. Our results suggested that PWS GH deficiency was mainly due to pituitary hypoplasia and decreased GH production but not to reduced GH secretory function per se, implicating Snord116 in the specific molecular/cellular pathways that account for impaired postnatal pituitary development and GH deficiency in PWS.

The succinate dehydrogenase (SDH) enzyme composed of four subunits (A-D) has a key role in the Krebs cycle and oxidative phosphorylation. Germline pathogenic variants (GPV) in the genes encoding the four subunits of the succinate dehydrogenase (SDH) enzyme (SDHA/SDHB/SDHC/SDHD), collectively known as SDHx are recognized as a paradigm for the role of disordered metabolism in oncogenesis as GPVs in SDHx lead to a truncated citric acid cycle due to reduced or absent function of the SDH enzyme and accumulation of the oncometabolite succinate. GPVs in SDHx are the most common cause of hereditary PPGL and are associated with a higher risk of malignant PPGL and predispose to other tumors including renal cell carcinoma, gastrointestinal stromal tumors (GIST) and pituitary adenomas. Utilizing the linkage of SDHx to metabolic dysfunction, we performed prospective plasma metabolomics and identified succinate as a biomarker for early diagnosis of an underlying SDHx variant. Succinate reflected SDHx deficiency, in individuals with germline predisposition and a small number of patients with somatic SDHx deficiency, and succinate levels correlated with tumor burden. Longitudinal sampling of patients illustrated that serial succinate measurements might be used as a biomarker for disease surveillance. These findings were validated by tissue analysis in a mouse model of Sdhb deficiency, where elevated succinate was observed in adrenal glands. While circulating plasma levels did not mirror the human cohort, this discrepancy suggests specific cellular thresholds for succinate or SDHx deficiency in adrenal gland tissue and highlights species-specific metabolic regulation.

De Morsier syndrome, or septo-optic dysplasia (SOD), is a rare congenital malformation characterized by optic nerve hypoplasia, midline brain abnormalities, and pituitary hormone deficiencies. Neonatal presentation can be misleading, particularly when it manifests as cholestatic jaundice. We report the clinical, biochemical, and radiological evaluation of a two-month-old male infant admitted for persistent neonatal cholestatic jaundice, progressive weight faltering, and recurrent hypoglycemia. Slit-lamp examination, comprehensive endocrine workup, and brain magnetic resonance imaging (MRI) were performed to establish the diagnosis. Written informed consent was obtained from the patient's parents (or legal guardians) for publication of this case report and any accompanying images. Physical examination revealed horizontal nystagmus and bilateral megalocornea (diameter > 13 mm). Laboratory investigations showed cholestasis with normal gamma-glutamyl transferase (GGT) levels and recurrent hypoglycemia, which led to the diagnosis of combined anterior pituitary hormone deficiency (growth hormone, thyroid-stimulating hormone, and adrenocorticotropic hormone). Brain MRI confirmed the diagnosis by showing agenesis of the septum pellucidum, bilateral optic nerve hypoplasia, and an ectopic posterior pituitary gland. Targeted hormone replacement therapy with L-thyroxine (10 μg/kg/day) and hydrocortisone (5 mg/kg/day) led to a complete resolution of the cholestasis within three weeks, alongside blood glucose stabilization and weight gain. Neonatal cholestasis is a classic early manifestation of SOD due to impaired bile acid transporter maturation caused by endocrine deficits. Its association with megalocornea highlights the variability of embryonic anterior segment anomalies. Early diagnosis is vital to initiate prompt hormone therapy, ensure hepatic recovery, and optimize neurodevelopmental outcomes.

Donkeys have a plethora of species-specific metabolic traits that make them predisposed to endocrinopathies and metabolic disturbances. Due to their ability to digest poor-quality feedstuff and accumulate adipose tissue, donkeys are prone to obesity. Insulin dysregulation/metabolic syndrome, pituitary pars intermedia dysfunction, and endocrinopathic laminitis are also prevalent in donkeys. Their efficiency to mobilize fat in situations of increased energy demands increases the predisposition to dyslipidemias. There are major endocrine differences between horses and donkeys, with different protocols to diagnose endocrine and metabolic diseases. Thus, a donkey-specific approach is crucial to avoid misdiagnosis, inadequate treatments, additional costs, or complications.