Global prevalence of congenital color vision deficiency among children and adolescents, 1932-2022.

Purpose: To estimate the prevalence of congenital color vision deficiency (CVD), categorized by geographical region, ethnicity, type (deutan, protan, and tritan), and severity (anomalous trichromacy, dichromacy, and monochromacy).

Design: Systematic review and meta-analysis of the literature.

Participants: A total of 1,703,619 participants, including 31,493 patients from 56 studies across 21 countries and five continents, were included in our analysis.

Comparison of the effectiveness of recombinant human growth hormone therapy in preterm and full-term children with short stature born small for gestational age.

Purpose: With improvements in the infant survival rates for high-risk pregnancies, the prevalence of short stature in children born prematurely and small for gestational age (SGA) has also increased. The aim of this study was to compare the effectiveness of recombinant human growth hormone (rhGH) therapy for preterm and full-term SGA children with short stature.

Methods: This study included 114 children born SGA (40 preterm and 74 term), who showed no catch-up growth by age 4 years and had undergone rhGH therapy for at least one year.

Endocrine manifestations and long-term outcomes of patients with mitochondrial diseases.

Background: Endocrine dysfunctions are commonly associated with mitochondrial diseases. This study aimed to investigate clinical characteristics and outcomes of endocrine manifestations in patients with mitochondrial diseases.

Methods: This study included 54 patients from 47 families with mitochondrial diseases who were genetically confirmed; 49 patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), four with Pearson syndrome, and one with Kearns-Sayre syndrome (KSS).

Phenotypic spectrum and long-term outcomes of patients with 46,XX disorders of sex development.

Purpose: 46,XX disorders of sex development (DSD) involve atypical genitalia accompanied by a normal female karyotype. This study was performed to investigate the clinical characteristics and long-term outcomes of patients with 46,XX DSD.

Methods: The study included 34 patients with 46,XX DSD who presented with ambiguous genitalia or delayed puberty.

Precancerous Cells Initiate Glioblastoma Evolution and Contribute to Intratumoral Heterogeneity.

Unlabelled: Neural stem cells in the subventricular zone are identified as cells of origin harboring driver mutations in glioblastoma (GBM), which is the most devastating brain tumor with highly heterogeneous nature. However, the sequential transformation of a limited number of mutation-harboring neural stem cells into a distant tumor with high intratumoral heterogeneity remains poorly understood. In this study, we have identified transcriptionally distinct types of mutation-harboring precancerous cells in our spontaneous, somatic mouse model recapitulating human GBM evolution as well as in tumor-free subventricular zone tissues from patients.

Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome.

The Verloes or Hale diagnostic criteria have been applied for diagnosing CHARGE syndrome in suspected patients. This study was conducted to evaluate the diagnostic rate of CHD7 according to these diagnostic criteria in suspected patients and also to investigate other genetic defects in CHD7-negative patients. The clinical findings and the results of genetic testing of CHD7, chromosome microarray, exome sequencing, or genome sequencing of 59 subjects were reviewed.

Endocrine Complications in Hepatic Glycogen Storage Diseases: A Long-term Perspective.

Patients with a hepatic type of glycogen storage diseases (GSDs) can manifest endocrine features such as hypoglycemia, dyslipidemia, or osteoporosis. This study aimed to investigate the long-term endocrine consequences in patients with hepatic GSDs.This study included 64 patients from 52 families with hepatic GSDs including GSD type Ia (41 patients from 37 families), Ib (3 unrelated), III (8 from 6 families), IV (1 patient), and IX (11 from 5 families).

Identifying infrequent genetic changes in monozygotic twins afflicted with hypospadias via targeted panel sequencing.

Purpose: We aimed to identify the genetic causes of hypospadias in children using targeted gene panel sequencing for disorders of sex development (DSD).

Materials And Methods: This study included 18 twin boys with hypospadias: seven and two pairs were monozygotic and dizygotic twins, respectively, and six were discordant and three were concordant twins. Targeted gene panel sequencing for 67 known DSD genes was performed.

Low-level brain somatic mutations in exonic regions are collectively implicated in autism with germline mutations in autism risk genes.

Low-level somatic mutations in the human brain are implicated in various neurological disorders. The contribution of low-level brain somatic mutations to autism spectrum disorder (ASD), however, remains poorly understood. Here, we performed high-depth exome sequencing with an average read depth of 559.

Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene.

Purpose: Deficiency of 21-hydroxylase (21-OHD) is an autosomal recessively inherited disorder that is characterized by adrenal insufficiency and androgen excess. This study was performed to investigate the clinical utility of prenatal diagnosis of 21-OHD using molecular genetic testing in families at risk.

Methods: This study included 27 pregnant women who had previously borne a child with 21-OHD.

Long-term endocrine sequelae after hematopoietic stem cell transplantation in children and adolescents.

Purpose: As the survival rate from pediatric cancers has increased significantly with advances in treatment modalities, long-term endocrine complications have also risen. This study investigated the frequencies and risks of endocrine sequelae in childhood cancer survivors who received hematopoietic stem cell transplantation (HSCT).

Methods: This study included 200 pediatric patients who underwent HSCT.

Overview of endocrine tumor syndromes manifesting as adrenal tumors.

Endocrine tumor syndromes constitute a group of disorders characterized by tumors in hormone-producing tissues. These conditions predominantly affect younger patients and often have a familial inheritance. Advances in molecular genetics in recent decades have facilitated the identification of several genes associated with these tumors.

Impact of Early Diagnostic and Therapeutic Interventions and Clinical Course in Children and Adolescents with Multiple Endocrine Neoplasia Types 1 and 2.

Purpose: Multiple endocrine neoplasia types 1 (MEN1) and 2 (MEN2) are inherited endocrine tumor syndromes caused by mutations in the or genes. This study aimed to investigate clinical outcomes and molecular characteristics among children with MEN.

Methods: This study included eight patients from seven unrelated families.

Clinical Characteristics and Long-Term Outcomes of Adrenal Tumors in Children and Adolescents.

Objective: Adrenal tumors are generally rare in children and can be a part of familial cancer syndrome. This research was conducted to examine the clinical outcomes, histopathological results, and genetic etiologies of adrenal tumors in children and adolescents.

Methods: Thirty-one children and adolescents with adrenal tumors were included.

Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome.

Congenital adrenal hyperplasia (CAH) is a group of autosomally recessive disorders that result from impaired synthesis of glucocorticoid and mineralocorticoid. Most cases (~95%) are caused by mutations in the CYP21A2 gene, which encodes steroid 21-hydroxylase. CAH patients manifest a wide phenotypic spectrum according to their degree of residual enzyme activity.

Applications of genomic research in pediatric endocrine diseases.

Recent advances in molecular genetics have advanced our understanding of the molecular mechanisms involved in pediatric endocrine disorders and now play a major role in mainstream medical practice. The spectrum of endocrine genetic disorders has 2 extremes: Mendelian and polygenic. Mendelian or monogenic diseases are caused by rare variants of a single gene, each of which exerts a strong effect on disease risk.

Mutation spectrum and frequency of copy number variations of the ANOS1 gene in patients with Kallmann syndrome or normosmic isolated hypogonadotropic hypogonadism.

Objective: This study was performed to investigate the molecular characteristics and frequency of copy number variations (CNVs) of ANOS1 in patients with Kallmann syndrome (KS) or normosmic isolated hypogonadotropic hypogonadism (nIHH) using multiplex ligation-dependent probe amplification (MLPA) analysis and sequencing.

Methods: Among 45 patients from 43 independent families, Sanger sequencing, next-generation sequencing (NGS), or microarray was performed in 24 patients from 23 families, and MLPA was performed in 19 patients who did not show rare sequence variants (n = 18) or ANOS1 amplification by PCR (n = 1).

Results: Seven patients (four patients with KS, one patient with nIHH, one prepubertal boy with anosmia, and one newborn patient) from six families (6/43, 14%) harbored molecular defects in ANOS1 including a nonsense mutation (c.

Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes.

Purpose: Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disorder caused by unresponsiveness to androgens because of mutations in the AR gene. Here, we investigated the clinical outcomes and molecular spectrum of AR variants in patients with AIS attending a single academic center.

Methods: This study included 19 patients with AIS who were confirmed by molecular analysis of AR.

A phase II, multicenter, open-label trial to evaluate the safety and efficacy of ISU303 (Agalsidase beta) in patients with Fabry disease.

Background: Fabry disease (FD) is caused by a deficiency in the activity of the lysosomal enzyme, α-galactosidase A (α-Gal A), which leads to globotriaosylceramide (Gb3) deposition in multiple tissues. The current management of FD is enzyme replacement therapy (ERT). We report on the efficacy and safety of a new agalsidase beta, ISU303, in FD.

Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings.

Objective: Heterozygous CHD7 mutations cause a broad spectrum of clinical phenotypes ranging from typical CHARGE syndrome to self-limited delayed puberty. This study aimed to investigate the clinical characteristics of endocrine dysfunction in patients with CHD7 mutations.

Methods: The clinical features and endocrine findings from 30 patients with CHD7 variants were retrospectively reviewed.