Turner syndrome (TS) is a genetic disorder with phenotypic heterogeneity caused by the monosomy or structural abnormalities of the X chromosome, and it has a prevalence of about 1/2500 females live birth. The variable clinical features of TS include short stature, gonadal failure, and skeletal dysplasia. The association with growth hormone (GH) deficiency or other hypopituitarism in TS is extremely rare, with only a few case reports published in the literature. Here, we report the first case of a patient with mosaic TS with complete GH deficiency and pituitary microadenoma, and we include the literature review. During the work-up of the patient for severe short stature, three GH provocation tests revealed peak GH levels of less than 5 ng/mL, which was compatible with complete GH deficiency. Sella magnetic resonance imaging showed an 8 mm non-enhancing pituitary adenoma with mild superior displacement of the optic chiasm. Karyotyping revealed the presence of ring chromosome X and monosomy X (46,X,r(X)/45,X/46,X,psu dic r(X;X)), which indicated a mosaic TS. It is important to consider not only chromosome analyses in females with short stature, but also the possibility of the coexistence of complete GH deficiency accompanying pituitary lesions in TS. In conclusion, the present study reports the first case of GH deficiency and pituitary adenoma in a patient with rare mosaic TS, which extends the genotype–phenotype spectrum for TS.

Background: Headache is a common complaint during childhood and adolescence. It is important to be aware of the characteristics of pediatric headaches in order to make a precise and timely diagnosis. This study investigated the clinical characteristics of pediatric headaches according to the underlying etiology and age group. Methods: We retrospectively reviewed the medical records of 3374 pediatric patients (2667 with primary headache [PH] and 707 with secondary headache [SH]) who presented with headaches at two centers between January 2012 and November 2023. Results: The incidence of PH was significantly higher in adolescents (40.1% vs. 22.9%), whereas that of SH was considerably higher in preschoolers (37.5% vs. 16.3%) (p < 0.001). The prevalence of headaches attributed to infection was significantly higher in preschool and school-aged children (90.8% vs. 80.2%, p < 0.001); adolescents exhibited significantly higher frequencies of cranial and cervical vascular disorders (3.7% vs. 1.3%, p = 0.044) and psychiatric disorders (5.6% vs. 0.6%, p < 0.001). Statistically significant differences were observed between preschool/school-aged children and adolescents in terms of headache characteristics and the prevalence of headache-associated symptoms (60.4% vs. 74.1%, p < 0.001 in PH), neurologic abnormalities (10.2% vs. 23.6%, p < 0.001 in PH; 2.4% vs. 11.7%, p < 0.001 in SH), and headache triggers (19.9% vs. 24.2%, p = 0.008 in PH; 2.0% vs. 8.0%, p < 0.001 in SH). Conclusions: Recognizing the etiology and age-specific differences in the clinical characteristics of headaches is crucial for an accurate and timely diagnosis. Tailoring the diagnostic approach accordingly helps to achieve optimal outcomes in pediatric patients with headaches.

Background and Objectives: Brain imaging studies in pediatric patients with headaches often reveal inflammation of the sphenoid sinus. When we encounter patients presenting with headaches without respiratory symptoms, determining the causal relationship between isolated sphenoid sinusitis observed in brain imaging studies and headache is challenging. This study aims to evaluate the clinical characteristics of pediatric patients with headaches and isolated sphenoid sinusitis identified by brain imaging studies and to determine the effects of antibiotics on headache relief. Materials and Methods: Among patients aged <18 years with headaches, those in whom isolated sphenoid sinusitis was observed on brain imaging were included. Their medical records were retrospectively reviewed to evaluate their clinical characteristics and outcomes. Based on antibiotic and analgesic effects, the included patients were categorized into acute bacterial sinusitis (BS) and non-BS groups, and clinical data were compared between the two groups. Results: Brain imaging studies were performed for 1751 patients, and 205 (11.7%) and 41 (2.3%) patients demonstrated sinusitis and isolated sphenoid sinusitis, respectively. For the 41 patients with isolated sphenoid sinusitis, migraine with or without aura (58.5%) was the most frequent type of headache. Throbbing pain (34.1%) occurred most frequently, and the temporal area (51.2%) was the most common location of headache. Nausea/vomiting (56.1%) was the most common accompanying symptom, followed by ocular symptoms (34.1%). Only one (2.4%) patient complained of neurologic symptoms. Headache improved in 26 (63.4%) patients, with improvement without antibiotic therapy in 19 (46.3%) patients. The acute BS and non-BS groups demonstrated comparable characteristics, except for a higher frequency of ocular symptoms in the acute BS group than in the non-BS group (p = 0.044). Conclusions: Isolated sphenoid sinusitis was rarely identified in pediatric patients with headache examined using brain imaging studies. Considering the clinical characteristics and antibiotic effects, early intensive antibiotic therapy cannot be prioritized.

Background/Objectives: Headache attributed to rhinosinusitis (HRS) is uncommon in children but often misdiagnosed as migraine or tension-type headache (TTH). Overlapping phenotypes, incidental sinus findings on neuroimaging, and limited communication in younger patients complicate diagnosis and lead to inappropriate treatment. Methods: We retrospectively analyzed 3065 pediatric patients (<19 years) presenting with headache at two tertiary neurology clinics (2014–2023) with ≥1 year follow-up. Headaches were classified by ICHD-3 criteria. HRS diagnosis required radiologic sinus pathology and ≥50% improvement within 72 h of antibiotic or decongestant therapy. Demographic, clinical, neuroimaging, and family history data were collected. Symptom profiling used principal component analysis (PCA) and k-means clustering; multivariate logistic regression identified independent predictors. Results: Of 3065 patients, 32.7% had migraines, 15.5% TTH, and 4.5% HRS. Nearly one-third of HRS cases were initially misclassified. Compared with migraine and TTH, HRS patients were younger (median 9 years), more often male, and enriched in preschool age. Independent predictors included shorter duration (<1 h; OR 0.62), higher intensity (OR 2.165), nasal symptoms (OR 9.836), hearing impairment (OR 22.52), allergic rhinitis (OR 8.468), and family history of HRS (OR 32.602) (all p < 0.001). PCA showed overlap but distinct clustering: HRS was characterized by sinonasal and otologic features, whereas migraine clustered around sensory hypersensitivity. Conclusions: Pediatric HRS shows distinct predictors—young age, acute severe headache, nasal and auditory symptoms, allergic history, and family history—despite overlap with migraine and TTH. Structured use of these predictors with otolaryngologic assessment may improve diagnostic accuracy, reduce misclassification, and avoid unnecessary neuroimaging or inappropriate therapy.