ACTION Teens Saudi Arabia: Perceptions, attitudes, motivators, and barriers among adolescents living with obesity, caregivers, and healthcare professionals in Saudi Arabia.

Obesity is predicted to affect approximately one-quarter of children/adolescents in Saudi Arabia by 2030, but there is limited evidence regarding the perceptions, attitudes, behaviours, and barriers to effective obesity care for adolescents living with obesity (ALwO), caregivers of ALwO, and healthcare professionals (HCPs). We report data from 500 ALwO (aged 12-<18 years), 500 caregivers, and 200 HCPs surveyed in Saudi Arabia as part of the global, cross-sectional ACTION Teens study (NCT05013359). Nearly all respondents recognized that obesity has a strong impact on overall health (ALwO 88%; caregivers 85%; HCPs 90%).

Information needs on type 1 diabetes mellitus (T1DM) and its management in children and adolescents: a qualitative study.

Objective: The objective of this study is to explore the information needs related to insulin therapy in children and adolescents with type 1 diabetes mellitus (T1DM) from the children's perspectives as well as their caregivers.

Design: Qualitative study; semistructured interviews. To identify emerging themes relating to information needs, open coding and thematic analysis were employed.

The views of teenagers with obesity, their caregivers, and doctors: a plain language summary of the ACTION Teens global survey.

What Is This Summary About?: This is a summary of a research survey called ACTION Teens. In our survey, 12,987 people from 10 countries answered questions about obesity. They were: 5275 teenagers with obesity, 5389 caregivers of teenagers with obesity, and 2323 doctors who provide medical care for teenagers with obesity.

Experiences and needs of Saudi mothers when a child or adolescent is diagnosed with type 1 diabetes mellitus: a qualitative study.

Aim: To explore the experiences of Saudi mothers with children or adolescents who have Type 1 diabetes mellitus at time of diagnosis.

Background: The Kingdom of Saudi Arabia (KSA) has one of the highest incidence rates of Type 1 diabetes mellitus in children and adolescents in the world. Few studies have considered the most appropriate methods of support for parents in the KSA and none report the experiences of Saudi mothers.

Misalignment among adolescents living with obesity, caregivers, and healthcare professionals: ACTION Teens global survey study.

Background: There is limited evidence regarding the experiences, challenges, and needs of adolescents living with obesity (ALwO), their caregivers, and healthcare professionals (HCPs).

Objectives: The cross-sectional, survey-based global ACTION Teens study aimed to identify perceptions, attitudes, behaviours, and barriers to effective obesity care among ALwO, caregivers of ALwO, and HCPs.

Methods: ALwO (aged 12 to <18 years; N = 5275), caregivers (N = 5389), and HCPs treating ALwO (N = 2323) from 10 countries completed an online survey (August-December 2021).

Patients' Perception of the Use of the EasyPod™ Growth Hormone Injector Device and Impact on Injection Adherence: A Multi-Center Regional Study.

Objective: This study aimed to assess patient perceptions of the use of the EasyPod™ growth hormone delivery device and its association with compliance.

Methods: This cross-sectional, multicenter study was conducted in six centers from three countries (United Arab Emirates, Oman, and Saudi Arabia,) between March 2020 and June 2020. Children and adolescents aged 3-18 years, diagnosed with growth disorders and receiving rhGH through the EasyPod™ device were enrolled.

Digital Health for Supporting Precision Medicine in Pediatric Endocrine Disorders: Opportunities for Improved Patient Care.

Digitalization of healthcare delivery is rapidly fostering development of precision medicine. Multiple digital technologies, known as telehealth or eHealth tools, are guiding individualized diagnosis and treatment for patients, and can contribute significantly to the objectives of precision medicine. From a basis of "one-size-fits-all" healthcare, precision medicine provides a paradigm shift to deliver a more nuanced and personalized approach.

A Unique Genotype of Pseudohypoaldosteronism Type 1b in a Highly Consanguineous Population.

Context: Pseudohypoaldosteronism (PHA) is a condition in which serum aldosterone level is normal or elevated but its action is deficient.

Objective: This study describes the molecular genetics of PHA 1b in the highly consanguineous population of 2 Arabian Gulf countries, Saudi Arabia and Oman.

Methods: This study enrolled 22 patients from 13 unrelated families (2 families with 5 patients from Oman and 11 families with 17 patients from Saudi Arabia).

25-Hydroxylase vitamin D deficiency in 27 Saudi Arabian subjects: a clinical and molecular report on CYP2R1 mutations.

Vitamin D deficiency remains a major cause of rickets worldwide. Nutritional factors are the major cause and less commonly, inheritance causes. Recently, CYP2R1 has been reported as a major factor for 25-hydroxylation contributing to the inherited forms of vitamin D deficiency.

Achieving Optimal Short- and Long-term Responses to Paediatric Growth Hormone Therapy.

It is over sixty years since the first administration of human growth hormone (GH) to children with GH deficiency, and over thirty years since recombinant human GH has been available for treatment of GH deficiency and a wider range of non-GH deficiency disorders. From a diagnostic perspective, genetic analysis, using single gene or Sanger sequencing and more recently next generation or whole exome sequencing, has brought advances in the diagnosis of specific causes of short stature, which has enabled therapy to be targeted more accurately. Genetic discoveries have ranged from defects of pituitary development and GH action to abnormalities in intracellular mechanisms, paracrine regulation and cartilage matrix formation.

Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation.

Background: Vitamin D regulates the concentrations of calcium and phosphate in blood and promotes the growth and remodeling of bones. The circulating active form of vitamin D, 1,25-dihydroxyvitamin D, binds to the vitamin D receptor (VDR), which heterodimerizes with the retinoid X receptor to regulate the expression of target genes. Inactivating mutations in the VDR gene cause hereditary vitamin D-resistant rickets (HVDRR), a rare disorder characterized by an early onset of rickets, growth retardation, skeletal deformities, hypocalcemia, hypophosphatemia and secondary hyperparathyroidism, and in some cases alopecia.

A high rate of novel CYP11B1 mutations in Saudi Arabia.

Despite ethnic variation, 11 β-hydroxylase deficiency (11β-OHD) has generally been considered the second most common subtype of congenital adrenal hyperplasia (CAH). We report a high rate of novel mutations in this gene (CYP11B1) in patients from Saudi Arabia. We studied 16 patients with 11β-OHD from 8 unrelated families.

Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss.

Background: Congenital combined pituitary hormone deficiency (CPHD) is a rare heterogeneous group of conditions. CPHD-type 3 (CPHD3; MIM# 221750) is caused by recessive mutations in LHX3, a LIM-homeodomain transcription factor gene. The isoforms of LHX3 are critical for pituitary gland formation and specification of the anterior pituitary hormone-secreting cell types.

Diagnosis and management of growth disorders in Gulf Cooperation Council (GCC) countries: Current procedures and key recommendations for best practice.

Diagnosis and management of growth disorders comprises an important area of pediatric practice. Current procedures in the different stages of the identification, referral, investigation, and treatment of growth disorders in the Gulf Cooperation Council (GCC) countries have been summarized. Evidence-based procedures, relating specifically to height screening for identification of short stature, auxological criteria for patient referral from primary to secondary pediatric care, and general and endocrine investigations and diagnosis have been discussed and outlined.

Decline in menarcheal age among Saudi girls.

Objectives: To estimate age at menarche and to assess trends in menarcheal age among Saudi women.

Methods: A prospective longitudinal study was conducted among healthy prepubertal female school children and adolescents from September 2006 to July 2012 in Riyadh, Kingdom of Saudi Arabia. Study participants were invited from diverse socioeconomic backgrounds.

Effect of mobile phone short text messages on glycemic control in type 2 diabetes.

Background: Mobile phone text messaging has rapidly become a socially popular form of communication. Several studies showed that mobile phone might offer a useful means of providing information between clinic visits and might increase adherence to diabetes therapy regimens.

Objectives: We conducted a study to evaluate the effect of mobile phone short message service (SMS) on glycemic control in Saudi patients with type 2 diabetes.

Hyperinsulinism in a child presenting with cardiac ischemia and bradycardia.

A 5-year-old boy referred to our service with suspected sinus node dysfunction. In addition to the arrhythmia, he had moderate mitral valve regurgitation and depressed ventricular function during a hypoglycemic episode. Cardiac abnormalities resolved with glucose infusion.

Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association?

FGFR3 mutations cause wide spectrum of disorders ranging from skeletal dysplasias (hypochondroplasia, achondroplasia, and thanatophoric dysplasia), benign skin tumors (epidermal nevi, seborrhaeic keratosis, and acanthosis nigricans), and epithelial malignancies (multiple myeloma and prostate and bladder carcinoma). Hypochondroplasia is the most common type of short-limb dwarfism in children resulting from fibroblast growth factor receptor 3 (FGFR3) mutation. Acanthosis nigricans might be seen in severe skeletal dysplasia, including thanatophoric dysplasia and SADDAN syndrome, without a biochemical evidence of hyperinsulinemia.

Divergent gender identity in three siblings with 46XX karyotype and severely virilizing congenital adrenal hyperplasia caused by a novel CYP11B1 mutation.

Objective: To describe conflicting gender identities in three karyotypically female siblings with congenital adrenal hyperplasia (CAH) caused by a novel mutation in the CYP11B1 gene, who were assigned as males at birth and followed up to adulthood.

Methods: We present 3 siblings (16, 14 and 10 years old) who were born with severe genital virilization and raised as males. Clinical examination showed Prader IV to V external genitalia with a stretched penile length of 7 to 11 cm.

Effect of mobile phone short text messages on glycaemic control in children with type 1 diabetes.

We conducted a feasibility study of a mobile phone messaging service for children and adolescents with type 1 diabetes. Two hundred children with type 1 diabetes took part in a six-month trial. The children were provided - through their parents - with daily information messages, with weekly interactive messages, and on request, with multimedia video messages about procedures related to diabetes care.

Heterogeneity in phenotype of usher-congenital hyperinsulinism syndrome: hearing loss, retinitis pigmentosa, and hyperinsulinemic hypoglycemia ranging from severe to mild with conversion to diabetes.

Objective: To evaluate the phenotype of 15 children with congenital hyperinsulinism (CHI) and profound hearing loss, known as Homozygous 11p15-p14 Deletion syndrome (MIM #606528).

Research Design And Methods: Prospective clinical follow-up and genetic analysis by direct sequencing, multiplex ligation-dependent probe amplification, and microsatellite markers.

Results: Genetic testing identified the previous described homozygous deletion in 11p15, USH1C:c.