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Congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency is an uncommon disorder characterized by impaired cortisol synthesis, hyperandrogenism, and mineralocorticoid excess. The coexistence of Leydig cell...

BackgroundMaternal exposure to air pollutants are associated with congenital heart defects (CHDs), yet fundamental questions remain unclear: which pollutant matters most, which exposure window is most critical, and wheth...

BackgroundComplex congenital heart disease (CHD) has long been a significant cause of infant mortality and severe morbidity. However, pediatric cardiac rehabilitation (CR) is gaining recognition, and evidence regarding p...

Abstract Background Children with congenital and acquired heart disease (CAHD) are at high risk for venous thromboembolism (VTE). Traditional anticoagulants such as vitamin K antagonists (VKAs) and low-molecular-weight h...

PURPOSE: To date, no study provides definitive evidence for the pathogenesis of congenital absence of the vas deferens (CAVD). This study aims to evaluate the vas deferens (VD), particularly the intra-abdominal part and ...

ObjectiveCongenital Hypogonadotropic Hypogonadism (CHH) is a rare disease with an extremely low incidence, and the outcomes of fertility induction therapy in CHH patients exhibit significant interindividual heterogeneity...

Background: Post-operative pulmonary hypertension (PH) following biventricular repair of congenital heart disease (CHD) remains a high-risk condition, but its prognosis and risk stratification are poorly defined. This st...

Abstract Background Congenital malformations in domestic cats are traditionally considered uncommon; however, recent evidence suggests they may represent an underrecognized cause of neonatal mortality. Most reported anom...

Abstract Background Down syndrome (DS) is the most common chromosomal disorder associated with congenital heart disease (CHD). However, data on CHD patterns, survival, and mortality predictors among individuals with DS i...

The early postoperative period in infants following the correction of congenital heart defects is often accompanied by hemodynamic lability, systemic stress, and an acute-phase response, which may lead to transient organ...

Abstract To evaluate the incidence of bleeding and thrombotic events in children with congenital or acquired heart disease (CAHD) receiving direct oral anticoagulants by rivaroxaban, and identify associated covariates. T...

Aim: To investigate whether RhoA/ROCK pathway genes (RHOA, ROCK1, ROCK2) are differentially expressed in tunica albuginea of patients with congenital penile curvature (CPC) relative to Peyronie's disease (PD) and erectil...

The case report aimed to present a clinical case of a 3-year-old boy, who presented first with motor delay at 3 months, later with bilateral total deafness and hypotonia, and was diagnosed as Pierpont syndrome with an au...

Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder characterized by deficient production, secretion, or action of gonadotropin-releasing hormone (GnRH), the central regulator of the reproductive axis. We r...

Abstract Background Iodine plays a critical role in producing thyroid hormones essential for brain development. An imbalance of iodine, whether deficiency or excess, can disrupt thyroid function. Iodine-induced hypothyro...

Iman Owliaee,1 Ali Teimoori,1 Mohammad Shoushtari,2 Ali Shojaeian3 1Department of Medical Virology, Faculty of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran; 2Department of Virology, Pasteur Institute o...

BackgroundCongenital athymia (CA) is a rare T cell immune deficiency, fatal without curative treatment with allogeneic processed thymus tissue–agdc (RETHYMIC) implantation (here termed CTTI). The rate and extent of T c...

Abstract Congenital pulmonary airway malformation (CPAM), especially type I, is an uncommon developmental lung defect marked by abnormal proliferation of pseudostratified ciliated columnar epithelium (PCCE) and the prese...

Ventricular electrical storm is a life-threatening emergency, especially in pediatric settings. The condition is largely mediated by heightened cardiac adrenergic tone and may be triggered by acquired conditions, while t...

Congenital candidiasis is a rare but potentially lethal disease in preterm infants. Most cases are caused by Candida albicans; to date, there are no reports of Candida dubliniensis as the causative organism. Herein, we r...

Gunderman et al. share the second report of X-linked SEPTIN6-related disease in two brothers identified by SCID newborn screening. Findings include congenital neutropenia, absent circulating B cells, marrow mature myeloi...

Hemophilia B is an X-linked recessive bleeding disorder caused by deficiency or dysfunction of factor IX. It typically presents with spontaneous or trauma-induced bleeding, hemarthrosis, and soft tissue hematomas. We rep...

Aplasia Cutis Congenita (ACC) is a rare congenital disorder characterised by a lack of skin at birth, most commonly affecting the scalp, though other body areas may also be involved. The lesions typically range from 0.5 ...

Abstract Background Transcatheter closure of ventricular septal defects (VSDs) presents technical challenges in patients with complex anatomies and residual post-surgical defects. This study aimed to evaluate the feasibi...