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PURPOSE: Acute stroke often leads to dysphagia. In the oral stage of dysphagia, there is a potential for immediate benefit from using a palatal augmentation prosthesis (PAP). We investigated whether our quickly fabricated, simple, and expedited version of PAP would result in an immediate improvement in swallowing function after an acute stroke. METHODS: We analyzed the records of stroke patients that were hospitalized between October 2019 and March 2022 and met the following criteria: they had a rehabilitation prescription and had paralysis of facial or hypoglossal nerves and either repeated salivary swallowing test ≤2 times or modified water swallow test ≤3, they were fasting, were within 3 weeks of onset, and had a simple PAP made for them. Outcomes included with/without PAP, maximum tongue pressure, repeated salivary swallowing test, and modified water swallow test on the day after starting to wear PAP was started. In addition, within one week, a videofluoroscopic examination was performed to measure the oral transit time, pharyngeal transit time, and penetration aspiration scale. Statistical analyses were performed using Wilcoxon signed-rank tests. Statistical significance was set at P < 0.05. RESULTS: Fifteen patients met the inclusion criteria and were included in this study. The mean age of the subjects was 76.9 ± 9.0 years. The use of PAP significantly increased maximum tongue pressure (P < 0.0001*) and shortened oral transit time (P < 0.0091*). There were no significant differences among the other items. CONCLUSIONS: Simple PAP immediately increased the maximum tongue pressure and improved swallowing function during the oral stage.
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Aim: To examine the mortality rate and causes of death in childhood-onset type 1 diabetes in Japan. Methods: For a median 36.7 years, we followed 391 patients under the age of 15 years who developed type 1 diabetes between 1959 and 1996. We calculated the mortality rate per 100,000 person-years and the standardised mortality ratio (SMR) according to risk factors. Results: The mortality rates and SMRs were 823 and 8.8 with onset during 1959-1979, 370 and 5.9 with onset during 1980-1989, and 133 and 3.2 with onset during 1990-1996, respectively. The mortality rates and SMRs were 359 and 8.4 in men, and 235 and 6.0 in women. Mortality rates and SMRs were 452 and 7.3 in patients with diabetes onset before puberty and 514 and 6.3 in patients with onset after puberty. The main causes of death with shorter disease duration were sudden death, accident/suicide, and acute diabetic complications. With a more than 30-year disease duration, the main causes of death were end-stage renal disease and cardiovascular disease. Conclusions: This cohort study revealed a decrease in the mortality rate between 1959-1979 and 1990-1996 in patients with childhood-onset type 1 diabetes in Japan. Patients with onset after puberty had a higher mortality rate than those with onset before puberty.
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Although KCNJ11 mutation is the main cause of neonatal diabetes mellitus, reports of maturity-onset diabetes in the young (MODY) related to KCNJ11 are rare. Here, we report a case of KCNJ11-MODY in a 12-yr-old Japanese female. Hyperglycemia was initially detected during a school urine screening program. Subsequent laboratory examinations revealed impaired insulin secretion; however, no islet autoantibodies were detected. Genetic testing of KCNJ11 revealed a novel heterozygous variant, c.153G>C, p.Glu51Asp. The patient's father had the same mutation and was diagnosed with diabetes at 46 yr of age. KCNJ11-MODY was suspected, and sulfonylurea administration resulted in adequate glycemic control in the patient. The American College of Medical Genetics and Genomics guidelines classify this variant as likely pathogenic, and the effectiveness of sulfonylureas supports its pathogenicity. The patient could be treated with 0.02-0.03 mg/kg/d of glibenclamide, as this mutation may be responsive to only a small amount of sulfonylurea. A detailed family history and sequencing of causative genes, including KCNJ11, may help diagnose diabetes in school-aged patients.
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Aortic and valvular calcification are well-known risk factors for cardio-cerebrovascular events in patients undergoing hemodialysis. We investigated the clinical impact of an angulated aorto-septal angle as a result of aortic elongation due to aortic calcification on cardio-cerebrovascular outcomes in patients undergoing hemodialysis. We investigated 306 patients (mean age 65.4 years, 68% male) who underwent pre-scheduled routine echocardiography between April and September 2018. The angle between the anterior wall of the aorta and the ventricular septal surface (ASA) was quantified. We determined aortic and mitral valve calcification scores based on calcified cardiac changes; the aortic and mitral valve scores ranged between 0-9 and 0-6, respectively. The primary endpoint was a composite including cardio-cerebrovascular events and cardio-cerebrovascular death. The mean duration of dialysis among the patients in this analysis was 9.6 years. The primary endpoint was observed in 54 patients during the observational period (median 1095 days). Multivariable Cox proportional hazards analyses identified left ventricular ejection fraction (per 10% increase: hazard ratio [HR] 0.67; 95% confidential interval [CI] 0.53-0.84, P = 0.001), left ventricular mass index (per 10 g/m2 increase: HR 1.14; 95% CI 1.05-1.24, P = 0.001), ASA (per 10 degree increase: HR 0.69; 95% CI 0.54-0.88; P = 0.003), and aortic valve calcification score (HR 1.15; 95% CI 1.04-1.26, P = 0.005) as independent determinants of the primary endpoint. Kaplan-Meier analysis showed a higher incidence of the primary endpoint in patients with ASA <119.4 degrees than those with ASA ≥119.4 degrees (Log-rank P < 0.001). An angulated aorto-septal angle is an independent risk factor for cardio-cerebrovascular events and cardio-cerebrovascular death in patients undergoing hemodialysis.
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Estenosis de la Válvula Aórtica , Función Ventricular Izquierda , Humanos , Masculino , Anciano , Femenino , Volumen Sistólico , Diálisis Renal/efectos adversos , Válvula Aórtica/diagnóstico por imagen , Factores de Riesgo , Resultado del TratamientoRESUMEN
Biallelic pathogenic variants in neuroblastoma-amplified sequence (NBAS) cause a pleiotropic multisystem disorder. Three clinical subgroups have been defined correlating with the localisation of pathogenic variants in the NBAS gene: variants affecting the C-terminal region of NBAS result in SOPH syndrome (short stature, optic atrophy, Pelger-Huët anomaly), variants affecting the Sec 39 domain are associated with infantile liver failure syndrome type 2 (ILFS2) and variants affecting the ß-propeller domain give rise to a combined phenotype. However, there is still unexplained phenotypic diversity across the three subgroups, challenging the current concept of genotype-phenotype correlations in NBAS-associated disease. Therefore, besides examining the genetic influence, we aim to elucidate the potential impact of pre-symptomatic diagnosis, emergency management and other modifying variables on the clinical phenotype. We investigated genotype-phenotype correlations in individuals sharing the same genotypes (n = 30 individuals), and in those sharing the same missense variants with a loss-of-function variant in trans (n = 38 individuals). Effects of a pre-symptomatic diagnosis and emergency management on the severity of acute liver failure (ALF) episodes also were analysed, comparing liver function tests (ALAT, ASAT, INR) and mortality. A strong genotype-phenotype correlation was demonstrated in individuals sharing the same genotype; this was especially true for the ILFS2 subgroup. Genotype-phenotype correlation in patients sharing only one missense variant was still high, though at a lower level. Pre-symptomatic diagnosis in combination with an emergency management protocol leads to a trend of reduced severity of ALF. High genetic impact on clinical phenotype in NBAS-associated disease facilitates monitoring and management of affected patients sharing the same genotype. Pre-symptomatic diagnosis and an emergency management protocol do not prevent ALF but may reduce its clinical severity.
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Fallo Hepático Agudo , Neuroblastoma , Anomalía de Pelger-Huët , Humanos , Fenotipo , Anomalía de Pelger-Huët/complicaciones , Anomalía de Pelger-Huët/genética , Anomalía de Pelger-Huët/patología , Fallo Hepático Agudo/genética , Mutación Missense , Neuroblastoma/complicacionesRESUMEN
CONTEXT: Adrenal crisis (AC) is a life-threatening complication that occurs during follow-up of patients with adrenal insufficiency (AI). No prospective study has thoroughly investigated AC in children with primary and secondary AI. OBJECTIVE: This work aimed to determine the incidence and risk factors for AC in patients with pediatric-onset AI. METHODS: This multicenter, prospective cohort study conducted in Japan enrolled patients diagnosed with AI at age ≤15 years. The incidence of AC was calculated as events per person-year (PY), and risk factors for AC were assessed using Poisson regression multivariable analysis. RESULTS: The study population comprised 349 patients (164 male, 185 female) with a total follow-up of 961 PY. The median age at enrollment was 14.3 years (interquartile range [IQR] 8.5-21.2 years), and the median follow-up was 2.8 years (IQR 2.2-3.3 years). Of these patients, 213 (61%) had primary AI and 136 (39%) had secondary AI. Forty-one AC events occurred in 31 patients during the study period. The calculated incidence of AC was 4.27 per 100 PY (95% CI, 3.15-5.75). Poisson regression analysis identified younger age at enrollment (relative risk [RR] 0.93; 95% CI, 0.89-0.97) and increased number of infections (RR 1.17; 95% CI, 1.07-1.27) as significant risk factors. Female sex (RR 0.99; 95% CI, 0.53-1.86), primary AI (RR 0.65; 95% CI, 0.30-1.41), or equivalent dosage of hydrocortisone per square meter of body area (RR 1.02; 95% CI, 0.96-1.08) was not a significant risk factor. CONCLUSION: A substantial proportion of patients with pediatric-onset AI experience AC. Younger age and an increased number of infections are independent risk factors for developing AC in these patients.
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Insuficiencia Suprarrenal , Humanos , Masculino , Femenino , Insuficiencia Suprarrenal/epidemiología , Insuficiencia Suprarrenal/etiología , Incidencia , Niño , Factores de Riesgo , Adolescente , Estudios Prospectivos , Japón/epidemiología , Adulto Joven , Preescolar , Estudios de Seguimiento , Edad de Inicio , HidrocortisonaRESUMEN
Introduction: Although the treatment success of long-term growth hormone therapy (GHT) is dependent on maintaining patients' adherence to treatment, marked variations in adherence levels among children with GHT (eg, 7-71% nonadherence) have been reported. Barriers to or promoters of GHT adherence have been discussed and investigated, and digital health technologies, such as electronic GH injection devices, may have the potential to assess adherence to GHT more accurately. Thus, we conducted a multicenter, retrospective cohort study using GH injection log analysis of an electronic GH device, GROWJECTOR®L, to qualify adherence and explore the factors influencing adherence. Methods: This study enrolled 41 patients (median[range] age, 5.8[3.0 ~ 17.0] years) with short stature from nine Japanese medical institutions. The injection log data (12-48 weeks) were read by smartphones and collected into the data center through a cloud server. Results: Although cumulative adherence rates remained higher than 95% throughout the observation period, five (12.2%) patients had low adherence (<85%). Subsequently, subgroup and logistic regression analyses for exploring factors affecting adherence revealed that self-selection of GH device and irregular injection schedule (ie, frequent injections after midnight) significantly affected adherence rate (p=0.034 and 0.048, respectively). In addition, higher rates of irregular injections significantly affected low adherence (median[range], 11.26[0.79 ~ 30.50]% vs 0.26[0.00 ~ 33.33]%, p = 0.029). Discussion: Our study indicated that injection log analysis using an electronic GH device could detect irregular injection schedules due to a night owl or disturbance in lifetime rhythm affecting low adherence and had significant potential to encourage collaborative monitoring of adherence with healthcare providers and patients themselves/caregivers, along with growing autonomy and shared decision-making. Our study suggests the significance of narrative and personal approaches to adherence of patients with GHT and the usefulness of digital devices for such an approach and for removing various barriers to patient autonomy, leading to improvement and maintenance of adherence.
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BACKGROUND: Extraction of the mandibular third molar, the most frequent and important surgical procedure in the clinical practice of oral surgery, is associated with the risk of injury of the lingual nerve. Neuropathy of the lingual nerve poses diagnostic challenges regarding the transient or permanent nature of the injury. No consensus or criteria have been established regarding the diagnosis of lingual nerve neuropathy. We applied both Tinel's test and clinical neurosensory testing together, which can be easily used at the bedside in the early stages of injury. Therefore, we propose a new method to differentiate between lesions with the ability to heal spontaneously and those that cannot heal without surgery. RESULTS: Thirty-three patients (29 women, 4 men; mean age, 35.5 years) were included in this study. For all patients, the median interval between nerve injury and initial examination was 1.6 months and that between nerve injury and the second examination before determining the need for surgical management was 4.5 months. The patients were assigned to either group A or B. The spontaneous healing group (group A, n = 10) revealed a tendency for recovery within 6 months after tooth extraction. In this group, although there were individual differences in the degree of recovery, a remarkable tendency for recovery was observed based on clinical neurosensory testing in all cases. None of the patients were diagnosed with allodynia. In seven cases, the Tinel test result was negative at the first inspection, and in three cases, the result changed to negative at the second inspection. Conversely, in group B(n = 23), no recovery trend was observed with regard to clinical neurosensory testing, and nine patients had allodynia. Further, the Tinel test result was positive for all patients in both examinations. CONCLUSIONS: Our findings indicate that in case of transient lingual nerve paralysis, clinical neurosensory testing findings deteriorate immediately after tooth extraction and gradually recover, while Tinel's test shows a negative result. Using Tinel's test and clinical neurosensory testing together enabled early and easy identification of the severity of the lingual nerve disorder and of lesions that would heal spontaneously without surgical management.
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The clinical impact of ABO blood type on cardio-cerebrovascular outcomes in patients undergoing dialysis has not been clarified. A total of 365 hemodialysis patients participated in the current study. The primary endpoint was defined as a composite including cardio-cerebrovascular events and cardio-cerebrovascular death. The primary endpoint was observed in 73 patients during a median follow-up period of 1182 days, including 16/149 (11%) with blood type A, 22/81 (27%) with blood type B, 26/99 (26%) with blood type O, and 9/36 (25%) with blood type AB. At baseline, no difference was found in the echocardiographic parameters. Multivariable Cox regression analyses revealed that blood type (type A vs. non-A type; hazard ratio (HR): 0.46, 95% confidence interval (95% CI): 0.26-0.81, p = 0.007), age (per 10-year increase; HR: 1.47, 95% CI: 1.18-1.84), antiplatelet or anticoagulation therapy (HR: 1.91, 95% CI: 1.07-3.41), LVEF (per 10% increase; HR: 0.78, 95% CI: 0.63-0.96), and LV mass index (per 10 g/m2 increase; HR: 1.07, 95% CI: 1.01-1.13) were the independent determinants of the primary endpoint. Kaplan-Meier curves also showed a higher incidence of the primary endpoint in the non-A type than type A (Log-rank p = 0.001). Dialysis patients with blood type A developed cardio-cerebrovascular events more frequently than non-A type patients.
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Wolfram syndrome (WS) is a monogenic diabetes caused by variants of the WFS1 gene. It is characterized by diabetes mellitus (DM) and optic atrophy (OA). Individuals with WS initially present with autoantibody-negative type 1 DM (T1BDM). The diagnosis is often delayed or misdiagnosed even after visual impairment becomes apparent. We report a case of WS diagnosed by ophthalmologic screening before the appearance of visual impairment. A 7-year-old male patient developed T1BDM at the age of 3 years. At 6 years of age, his endogenous insulin secretion decreased but was not completely depleted, and glycemic control was good with insulin treatment. Fundus examination at that time revealed optic nerve head pallor, and WFS1 gene analysis confirmed a compound heterozygous variant (c.2483delinsGGA/c.1247T>A). Ophthalmologic screening can help in early diagnosis of WS in T1BDM especially when if endogenous insulin secretion is preserved, which would facilitate effective treatment.
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Neonatal diabetes mellitus (NDM) is a rare metabolic disorder that is mainly present in the first 6 months of life and necessitates insulin treatment. Sensor-augmented pump (SAP) therapy has been widely used in children with type 1 diabetes mellitus, but its use in patients with NDM is limited. We report three patients with NDM who received SAP therapy using the MiniMed™ 640G system starting in the neonatal period. Two patients were treated for 3 months, and one patient continued treatment up to an age of 22 mo. The MiniMed 640G system can automatically suspend insulin delivery (SmartGuard™ Technology) to avoid hypoglycemia when the sensor glucose level is predicted to approach the predefined threshold. We suggest that SmartGuard Technology is particularly useful for infants in whom hypoglycemia cannot be identified. The MiniMed 640G system automatically records the trends of sensor glucose levels and the total daily dose of insulin, which can make the management more accurate and reduce the family's effort. SAP therapy for patients with NDM automatically prevents severe hypoglycemia and is useful for long-term management; however, attention should be paid to its application.
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BACKGROUND: No studies have compared the outcomes of direct perineurial suture with vein graft cuff repair and indirect collagen allograft repair of the lingual nerve following an injury. Therefore, we evaluated and compared the outcomes of each over a 1-year observation period. We retrospectively assessed 20 patients who had undergone microneurosurgical repair of unilateral lingual nerve injuries at the Wakayama Medical University Hospital between May 2015 and March 2019. We utilized two different methods for lingual nerve repair, i.e., direct perineurial repair with a vein graft cuff and interpositional collagen allograft repair. Sensory and taste function in the lingual nerve were preoperatively evaluated using a static two-point discrimination test, superficial pain/tactile sensation test, tests for the pressure pain threshold (Semmens-Weinstein monofilament), test for thermal discrimination hot and cold sensation, and a taste discrimination test. These tests were performed again at 6 and 12 months postoperatively. RESULTS: Compared to the preoperative conditions, all patients showed improved sensory reactions. Functional sensory recovery outcomes were defined by Pogrel's criteria, Medical Research Council Scale grades, and functional sensory recovery. In each group, all patients improved after the operation. However, the operation time was significantly shorter for an interpositional collagen allograft repair as compared to that for a direct perineurial repair with a vein graft cuff. CONCLUSIONS: There were no statistically significant differences between the two repair Methods, except for the operation time. Both methods led to satisfactory results for all criteria. From an economic point of view, direct perineurial repair with a vein graft cuff is meaningful; however, the esthetic effect on the donor site should be considered. Conversely, interpositional collagen allograft repair has the advantage of a greatly shortened operation time.
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OBJECTIVE: This study aimed to compare the performance of deep learning image reconstruction (DLIR) with that of standard filtered back projection (FBP) and adaptive statistical iterative reconstruction V (ASiR-V) for measurement of the vascular diameter on computed tomography (CT) angiography model. METHODS: We used 6 vascular models of 3 wall thicknesses. We used DLIR, FBP, and ASiR-V for reconstruction, and compared the accuracy and precision of vascular diameter measurement, as well as the image noise, among the 3 reconstruction methods. RESULTS: Image noise was in the order of FBP > ASiR-V > DLIR. The vascular diameters measured using DLIR and ASiR-V were comparable with, or significantly closer to, the actual diameter than those measured using FBP. The precision of the diameter measurement using DLIR was comparable with or significantly superior to that using FBP/ASiR-V. CONCLUSIONS: Use of DLIR, as compared with FBP or ASiR-V, for image reconstruction can improve the precision and accuracy of vascular diameter measurement.
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Angiografía por Tomografía Computarizada/métodos , Aprendizaje Profundo , Interpretación de Imagen Radiográfica Asistida por Computador/métodos , Algoritmos , Modelos Cardiovasculares , Fantasmas de ImagenRESUMEN
PURPOSE: The purpose of the study is to evaluate the effect of energy level on the modulation transfer functions (MTF) and noise power spectra (NPS) of virtual monochromatic images (VMIs) obtained using four types of computed-tomographic (CT) scanners: Revolution, SOMATOM, IQon, and Aquilion. MATERIALS AND METHODS: VMIs were obtained at 70, 60, and 50 kiloelectron volts (keV), and also at the lowest keV available in each scanner. We evaluated the MTF and NPS in the VMIs obtained at each keV. RESULTS: No significant effect of the energy level on the MTF was observed in IQon, whereas the spatial resolution decreased as the energy level decreased in the other types of scanners. The NPS curves tended to increase as the energy levels decreased with three types of scanners other than Aquilion. CONCLUSION: The spatial resolution and noise frequency characteristics of VMIs may be affected by the energy level, and the effects of energy level on these characteristics differ depending on the type of CT scanners.
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Tomografía Computarizada por Rayos X , Humanos , Fantasmas de Imagen , Relación Señal-Ruido , Tomógrafos Computarizados por Rayos XRESUMEN
ABSTRACT: To evaluate the rib fracture detection performance in computed tomography (CT) images using a software based on a deep convolutional neural network (DCNN) and compare it with the rib fracture diagnostic performance of doctors.We included CT images from 39 patients with thoracic injuries who underwent CT scans. In these images, 256 rib fractures were detected by two radiologists. This result was defined as the gold standard. The performances of rib fracture detection by the software and two interns were compared via the McNemar test and the jackknife alternative free-response receiver operating characteristic (JAFROC) analysis.The sensitivity of the DCNN software was significantly higher than those of both Intern A (0.645 vs 0.313; Pâ<â.001) and Intern B (0.645 vs 0.258; Pâ<â.001). Based on the JAFROC analysis, the differences in the figure-of-merits between the results obtained via the DCNN software and those by Interns A and B were 0.057 (95% confidence interval: -0.081, 0.195) and 0.071 (-0.082, 0.224), respectively. As the non-inferiority margin was set to -0.10, the DCNN software is non-inferior to the rib fracture detection performed by both interns.In the detection of rib fractures, detection by the DCNN software could be an alternative to the interpretation performed by doctors who do not have intensive training experience in image interpretation.
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Aprendizaje Profundo , Interpretación de Imagen Radiográfica Asistida por Computador , Fracturas de las Costillas/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Curva ROC , Estudios Retrospectivos , Programas Informáticos , Adulto JovenRESUMEN
Atrophic autoimmune thyroiditis (AAT) is a type of autoimmune hypothyroidism without goiter. TSH receptor-blocking antibodies (TSBAb) are involved in its etiology in adults. Reportedly, this disease is extremely rare in children. In this study, we aimed to investigate the prevalence of TSBAb during AAT onset in children using a commercially available cell-based bioassay TSAb kit. We conducted a multicenter retrospective observational study. We collected data of patients with AAT who were < 15 yr old, enrolled in a collaborative research group, and diagnosed since July 2003. AAT was defined as acquired autoimmune hypothyroidism without thyroid enlargement. Eighteen patients (including 15 females) whose TSH receptor antibody (TRAb) or TSBAb levels were measured within a year from the initial visit were included. The median age at diagnosis was 9.3 years, and the estimated time between onset and diagnosis was 2.6 yr. The positive rate for either TSBAb or TRAb was 38.8% (95% confidence interval: 18.3-59.5%). There were no significant differences in age, the estimated time between onset and diagnosis, and FT4 levels at diagnosis between the TSBAb-positive and -negative groups. Unlike previous reports, we showed that the prevalence of TSBAb-positivity in childhood-onset AATs is not rare, as in adults.
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BACKGROUND: POU1F1 encodes both PIT-1α, which plays pivotal roles in pituitary development and GH, PRL and TSHB expression, and the alternatively spliced isoform PIT-1ß, which contains an insertion of 26-amino acids (ß-domain) in the transactivation domain of PIT-1α due to the use of an alternative splice acceptor at the end of the first intron. PIT-1ß is expressed at much lower levels than PIT-1α and represses endogenous PIT-1α transcriptional activity. Although POU1F1 mutations lead to combined pituitary hormone deficiency (CPHD), no patients with ß-domain mutations have been reported. RESULTS: Here, we report that a three-generation family exhibited different degrees of CPHD, including growth hormone deficiency with intrafamilial variability of prolactin/TSH insufficiency and unexpected prolactinoma occurrence. The CPHD was due to a novel POU1F1 heterozygous variant (c.143-69T>G) in intron 1 of PIT-1α (RefSeq number NM_000306) or as c.152T>G (p.Ile51Ser) in exon 2 of PIT-1ß (NM_001122757). Gene splicing experiments showed that this mutation yielded the PIT-1ß transcript without other transcripts. The lymphocyte PIT-1ß mRNA expression was significantly higher in the patients with the heterozygous mutation than a control. A luciferase reporter assay revealed that the PIT-1ß-Ile51Ser mutant repressed PIT-1α and abolished transactivation capacity for the rat prolactin promoter in GH3 pituitary cells. CONCLUSIONS: We describe, for the first time, that the PIT-1ß mutation can cause CPHD through a novel genetic mechanism, such as PIT-1ß overexpression, and that POU1F1 mutation might be associated with a prolactinoma. Analysis of new patients and long-term follow-up are needed to clarify the characteristics of PIT-1ß mutations.