Defining puberty and spectrum of hypogonadism in Alström Syndrome.

Background: Alström syndrome (AS), has been extensively studied for its multi-system organ manifestations. Primary gonadal failure is well described in humans, but little is known about the intricacies of puberty and true incidence of hypogonadism within this population.

Hypothesis: We aimed to define the onset and progression of puberty and the incidence of hypogonadism in male patients with AS.

Focusing on Rare Variants Related to Maturity-Onset Diabetes of the Young in Children.

In this study, we analysed the clinical and genetic characteristics and follow-up data of patients with maturity-onset diabetes of the young (MODY). From January 2015 to December 2022, patients with persistent hyperglycaemia suspected of having monogenic diabetes or diabetes syndrome were recruited, and next-generation sequencing (NGS) was performed at the Shanghai Children's Medical Center. Patients' clinical and laboratory findings were recorded preceding follow-ups.

Clinical delineation and genotype-phenotype correlation in 104 children with kabuki syndrome: A single-center, cross-sectional and follow-up study in China.

Unlabelled: This study provides a detailed genotype and phenotype analysis of a large longitudinal cohort of Kabuki Syndrome (KS) from a single center in China. From July 2017 to July 2024, participants were enrolled at Shanghai Children's Medical Center. Variants in KMT2D or KDM6A were identified through whole exome sequencing.

A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia.

The ARCN1 gene encodes the delta subunit of the coatomer protein complex I (COPI), which is essential for mediating protein transport from the Golgi complex to the endoplasmic reticulum. Variants in ARCN1 are associated with clinical features such as microcephaly, microretrognathia, intrauterine growth restriction, short rhizomelic stature, and developmental delays. We present a case of a patient exhibiting intrauterine growth restriction, preterm birth, microcephaly, micrognathia, and central precocious puberty.

Obesity-Related Ciliopathies: Focus on Advances of Biomarkers.

Obesity-related ciliopathies, as a group of ciliopathies including Alström Syndrome and Bardet-Biedl Syndrome, exhibit distinct genetic and phenotypic variability. The understanding of these diseases is highly significant for understanding the functions of primary cilia in the human body, particularly regarding the relationship between obesity and primary cilia. The diagnosis of these diseases primarily relies on clinical presentation and genetic testing.

[Treatment of ornithine transcarbamylase deficiency in a child with glyceryl phenylbutyrate].

Glyceryl phenylbutyrate (GPB) serves as a long-term management medication for Ornithine transcarbamylase deficiency (OTCD), effectively controlling hyperammonemia, but there is a lack of experience in using this medicine in China. This article retrospectively analyzes the case of a child diagnosed with OTCD at Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, including a review of related literature. After diagnosis, the patient was treated with GPB, followed by efficacy follow-up and pharmacological monitoring.

Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.

Background: Bardet-Biedl syndrome (BBS) is a type of non-motile ciliopathy. To date, 26 genes have been reported to be associated with BBS. However, BBS is genetically heterogeneous, with significant clinical overlap with other ciliopathies, which complicates diagnosis.

Screening/diagnosis of pediatric endocrine disorders through the artificial intelligence model in different language settings.

Unlabelled: This study is aimed at examining the impact of ChatGPT on pediatric endocrine and metabolic conditions, particularly in the areas of screening and diagnosis, in both Chinese and English modes. A 40-question questionnaire covering the four most common pediatric endocrine and metabolic conditions was posed to ChatGPT in both Chinese and English three times each. Six pediatric endocrinologists evaluated the responses.

Clinical and Molecular Characterization of a Patient with Generalized Arterial Calcification of Infancy Caused by Rare Mutation.

Generalized arterial calcification of infancy (GACI) is a rare autosomal-recessive disease characterized by extensive arterial calcification in infancy, with clinical manifestations such as arterial stenoses and heart failure. The ENPP1 inactivation mutation has been identified as a potential defect in most of the cases of GACI, while mutations in are demonstrated in patients who are genotyped as pseudoxanthoma elasticum and only limited cases of GACI are reported. Whole-exome sequencing was applied for the detection of pathogenic variants.

A de novo variant in ZBTB18 gene caused autosomal dominant non-syndromic intellectual disability 22 syndrome: A case report and literature review.

Rationale: Autosomal dominant non-syndromic intellectual disability 22 is a rare genetic disorder caused by the ZBTB18 gene. This disorder affects various parts of the body, leading to intellectual disability. It is noteworthy that only 31 cases of this disorder have been reported thus far.

Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities.

Background: Pathogenic variants in the centrosome protein (CEP) family have been implicated in primary microcephaly, Seckel syndrome, and classical ciliopathies. However, most CEP genes remain unlinked to specific Mendelian genetic diseases in humans. We sought to explore the roles of CEP295 in human pathology.

Clinical characteristics and genetic analysis of a child with specific type of diabetes mellitus caused by missense mutation of gene.

A 2-year-old boy was admitted to Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine in Nov 30, 2018, due to polydipsia, polyphagia, polyuria accompanied with increased glucose levels for more than 2 weeks. He presented with symmetrical short stature [height 81 cm (－2.2 SD), weight 9.

Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients.

Background: Cardio-facio-cutaneous (CFC) syndrome is a RASopathy subtype that presents with unique craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and intellectual disability. This study describes the phenotypic spectrum of CFC in China and its association with CFC syndrome gene variants.

Results: Twenty Chinese CFC patients, aged 0.

[Identification of a child with Teebi hypertelorism syndrome 1 due to variant of SPECC1L gene].

Objective: To explore the clinical characteristics and genetic basis of a child with Teebi hypertelorism syndrome 1 (TBHS1).

Methods: A child with TBHS1 who was admitted to the Children's Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine on July 13, 2021 was selected as the study subject. Clinical data of the child was collected.

Genotypic and phenotypic features of dyslipidemia in a sample of pediatric patients in China.

Background: Dyslipidemia, especially hypercholesterolemia is of significant clinical interest. Precise diagnosis is not paid enough attention to about the management of pediatric patients with hypercholesterolemia, which is especially apparent in China. Given this, we designed this study to confirm the specific molecular defects associated with hypercholesterolemia using whole-exome sequencing (WES) to be helpful for precise diagnosis and treatment.

Complex clinical manifestations and new insights in RNA sequencing of children with diabetes and variants.

Background: -related disorders involve a wide range of clinical phenotypes, including diabetes mellitus and neurodegeneration. Inheritance patterns of pathogenic variants of this gene can be autosomal recessive or dominant, and differences in penetrance present challenges for accurate diagnosis and genetic counselling.

Methods: Three probands and one elder brother from three families were systematically evaluated and the clinical data of other family members were collected from the medical history.

[Clinical characteristics and genetic analysis of a patient with STISS syndrome due to variant of PSMD12 gene].

Objective: To investigate the clinical and genetic characteristics of a patient with STISS syndrome due to variant of PSMD12 gene.

Methods: Clinical data and result of genetic testing of a patient who was admitted to Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine on October 4, 2020 were analyzed, together with a review of relevant literature.

Results: The patient was found to harbor a heterozygous c.

System Dynamic Model Simulates the Growth Trend of Diabetes Mellitus in Chinese Population: Implications for Future Urban Public Health Governance.

To simulate the growth trend of diabetes mellitus in Chinese population. The system dynamic modeling methodology was used to establish a population prediction model of diabetes with or without cardiovascular diseases. Lifestyle therapy and the use of metformin, acarbose, and voglibose were assumed to be intervention strategy.

Diagnosis of patients with mucopolysaccharidosis type II via RNA sequencing.

Background: Mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal storage disorder caused by various variants in the IDS gene. It is known that genomic recombinants between IDS and its homologous pseudogene IDSP1 account for a small number of patients, for whom genetic diagnosis usually relies on restriction enzyme digestion at specific loci. Nevertheless, such approach cannot reveal the impact of rearrangements on IDS transcription, which is crucial for the interpretation of the pathogenicity of rearrangement variants.

A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth.

Background: Mosaic variegated aneuploidy (MVA) syndrome is a rare, autosomal recessive genetic disease. Here, we report an ultra-rare case of MVA syndrome associated with a CEP57 variant.

Methods: We retrospectively analyzed the clinical data of a 9-year-old female patient and surveyed her family members.

Evaluating the variety of GNAS inactivation disorders and their clinical manifestations in 11 Chinese children.

Background: The GNAS gene on chromosome 20q13.3, encodes the alpha-subunit of the stimulatory G protein, which is expressed in most tissues and regulated through reciprocal genomic imprinting. Disorders of GNAS inactivation produce several different clinical phenotypes including pseudohypoparathyroidism (PHP), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC).

Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients.

Alström syndrome (ALMS) is a rare inherited metabolic disease and ciliopathy. Large cohorts of ALMS are lacking around the world. Detailed genetic and phenotypic data were obtained from all affected individuals.

Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature.

Context: Data and studies based on exome sequencing for the genetic evaluation of short stature are limited, and more large-scale studies are warranted. Some factors increase the likelihood of a monogenic cause of short stature, including skeletal dysplasia, severe short stature, and small for gestational age (SGA) without catch-up growth. However, whether these factors can serve as predictors of molecular diagnosis remains unknown.