17α-hydroxylase deficiency (17-OHD) is a rare type of congenital adrenal hyperplasia (CAH), accounting for about 1% of CAH cases, with an incidence rate of 1∶50 000. This article reports on a patient with suspected 17-OHD. A gene mutation in the steroidogenic enzyme gene, CYP17A1, was identified through exome sequencing. Combined with clinical manifestations, physical examination, adrenal gland and gonadal function tests, the final diagnosis of which was CAH, and standardized treatment was provided. Therefore, based on this case, the identification and diagnosis of 17-OHD are reviewed and summarized, in order to improve clinical understanding of the disease, thereby helping to improve the clinical standardization of diagnosis and treatment of 17-OHD, which is 17-OHD, as well as providing more reference materials for the diagnosis and treatment of this disease.
Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disorder that primarily affects the vasculature and exhibits a broad spectrum of clinical manifestations. There is a paucity of detailed literature on its clinical characteristics.
This study aims to deepen the understanding of HHT's clinical aspects by documenting the presentations, management, and outcomes of 30 patients diagnosed with the condition, thereby improving recognition and treatment approaches among healthcare professionals.
A retrospective review was conducted on 30 HHT cases treated at Peking Union Medical College Hospital from December 2012 to September 2023, focusing on analyzing their clinical features, therapeutic interventions, and follow-up outcomes.
The study included 8 males and 22 females, with a mean onset age of 20.0 years (range 10.5-34.0 years) and an average disease duration of 19.5 years (range 7.8-26.0 years). Epistaxis was universally present (100.0%), skin and mucosal telangiectasia were noted in 27 patients (90.0%), and 28 (93.3%) exhibited involvement of internal organs, including liver in 24 (80.0%), lungs in 15 (50.0%), gastrointestinal tract in 5 (16.7%), and brain in 3 (10.0%). Additionally, pulmonary hypertension was observed in 17 (56.7%) and iron deficiency anemia in 15 (50.0%). Genetic analysis in 15 patients identified ACVRL1 mutations in 12, ENG mutations in 2, and one patient with both. Beyond routine symptomatic care, some patients underwent targeted medical or interventional treatments, with the majority showing clinical improvement.
HHT is a systemic disorder affecting multiple organs, with frequent liver and occasional brain involvement. It commonly leads to serious complications such as pulmonary hypertension and iron deficiency anemia. Detailed patient history, thorough examinations, targeted screening of visceral vessels, and genetic testing are essential for early diagnosis and effective management in suspected cases.
Beckwith-Wiedemann syndrome (BWS) is a growth disorder in which BWS is associated with aberrant expression of genes imprinted in the critical region of BWS and is considered a clinical spectrum in which affected individuals may have many or only one or two typical clinical features. Postnatal neonatal screening is particularly important to facilitate early diagnosis and treatment of this disorder. In this paper, we report a case of a neonate with a large tongue as the first symptom, hypoglycemia during hospitalization, and umbilical hernia in the late follow-up, and genetic testing results suggesting that he carried a c.235T>C (p.Trp79Arg) variant as a missense variant in the coding region of the cyclin dependent kinase inhibitor 1C (CDKN1C) gene, and that a T→C transition in nucleotides at position 235 of the CDKN1C gene, i.e., a missense mutation in the amino acid located in amino acid 79. This resulted in the mutation of tryptophan to arginine. Combining the clinical features of the child with the genetic test results, the diagnosis of BWS was confirmed. The purpose of this case report and the related genetic research progress is to improve the understanding of the clinical diagnosis and treatment of BWS, and to avoid misdiagnosis and under-diagnosis.
Older adults with diabetes often have comorbidities, and are prone to acute infection. Abscess is a serious infectious disease, and untimely treatment of which may lead to sepsis and septic shock, endangering the life. Most studies on abscesses in diabetes focus on visceral abscess, among which the commonly seen are liver abscess and lung abscess, while multiple muscle abscesses have been rarely reported. We reported the diagnosis and treatment process of an older case of type 2 diabetes complicated with multiple deep muscle abscesses, and investigated the pathogenesis characteristics by referring to relevant literature, providing insights into clinical practice.
