Polyuria, polydipsia and weight loss are the most common presenting symptoms. Family history of type 1 diabetes mellitus is highly prevalent among the studied patients. Diabetic ketoacidosis was found to be less common in Oman compared to other diabetes centers in the Middle East.

Context This study describes the molecular genetics of pseudohypoaldosteronism type 1b (PHA 1b) in the highly consanguineous population of two Arabian Gulf countries, Saudi Arabia and Oman. Patients and Methods This study enrolled 22 patients from 13 unrelated families (two families with five patients from Oman and 11 families with 17 patients from Saudi Arabia). All of these patients had presented within the first 10 days of life with nausea and vomiting, hyponatremia, hyperkalemia and hypotension. We isolated DNA from peripheral blood and PCR-sequenced all exons and exon-intron boundaries of SCNN1A and, if negative, SCNN1B and SCNN1G using the Dideoxy Chain termination method. Results We found a total of eight mutations in 13 families as follows: six mutations in SCNN1A, one in SCNN1B, and one in SCNN1G. All of these mutations were novel except one. SCNN1A mutations were: c.1496A>G, p.Q499R (novel) in one patient; c.1453C>T, p.Q485X (novel) in one patient; c.1322_1322delA, p.N441Tfs*41 (novel) in two patients of one family; c.876 + 2 delGAGT (novel) in three patients of one family; c.203_204 delTC, p.I68Tfs*76 (known mutation) in eight patients of five families; and whole SCNN1A gene deletion (novel) in two patients of two families. In addition, a nonsense SCNN1B mutation c.1694C>A, p.S565X (novel) was found in three siblings from one Omani family, and an SCNN1G deletion mutation c.527_528 delCA, p.T176Rfs*9 (novel) in two siblings form another Omani family. Conclusion We characterized a unique genotype of PHA 1b with several novel gene-structure disrupting mutations in SCNN1A, SCNN1B and SCNN1G in a consanguineous population.

ObjectiveThis study aimed to assess patient perceptions of the use of the EasyPod™ growth hormone delivery device and its association with compliance.MethodsThis 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. Patients and caregivers were given a pre-set questionnaire that evaluated patient satisfaction, preference for technical and personalized features, and device drawbacks. The results were analyzed using independent measures of analysis of variance to evaluate the association of higher satisfaction with device features and better compliance.ResultsA total of 186 patients were enrolled in the study. Of these, 45.7% had GH deficiency. The mean age (±SD) of patients was 11.8 (±2.76) years; 117 (62.90%) were males. Average compliance was 87%. One hundred patients (53.76%) had injection compliance of ≥90%. Amongst these patients, 74%, 68%, and 77% top-scored (5/5) the technical features of hidden needle, skin sensor, and pre-set dosing, respectively, compared to top scores by 39%, 34%, and 51% patients in the <90% compliance group (p-value <0.05). Similarly, a statistically significant difference was observed between the groups (p-value <0.05) in the perception of the usefulness of the tracking features such as display of history of injected doses (78% vs. 47.7%), a reminder for medicine remaining (46% vs. 23.3%) and battery power indicator (48% vs. 20.9%). Personal screen messages were associated with higher compliance while the requirement to keep the device in the fridge was reported as the most inconvenient feature by 56% of patients in the higher compliance group as against 39.5% in the lower compliance group (p-value <0.05). There was no statistically significant difference in the intensity of pain reported in the two compliance groups.ConclusionOur study showed that there is a statistically significant association between better perception of device features and higher compliance.

The physiological actions of thyroid hormone (TH) are mediated through TH alpha and TH beta receptors. Resistance to TH (RTH) is characterized by a lack of peripheral tissues’ response to the active form of TH. TH receptor beta has been extensively studied. Mutations in this receptor were considered the main reason for TH resistance for some time up until the discovery of mutations in TH receptor alpha (TRα) that has attained more focus and interest in recent years. A 13-year-old child with classic hypothyroidism features (coarse facies, growth and developmental delay, skeletal dysplasia, generalized muscular hypertrophy, and severe constipation) associated with near-normal thyroid hormone levels, which did not support the diagnosis of hypothyroidism biochemically. Therefore, progressing with whole-exome sequencing had revealed a de novo heterozygous mutation in a gene encoding TRα that establishes a diagnosis of RTHα. This case report demonstrates a rare form of TH resistance due to mutation of TRα. It also emphasizes that THs act through distinctive receptor subtypes in different target tissues. Moreover, this report aims to raise awareness about this genetic mutation, which is thought to be more common than expected. However, due to its subtle features and insidious presentation, many cases remain undiagnosed; hence, the disorder’s exact incidence is unknown.

Multiple factors control the growth of a child, including genetics, nutrition, and socioeconomic factors. Referral of tallboys who are otherwise well is very rare. However, sometimes, extraordinary tall stature for the age can be a cause of great concern to the parents. We report a case of an Omani child with a de novo mutation of NSD1 that led to his overgrowth and diagnosis of Sotos syndrome (SoS). This syndrome is a rare genetic disorder. Only two cases of genetically proven diagnosis were reported from the Middle East and North Africa region. Therefore, we describe a case and highlight the comorbidities associated with this condition, encouraging colleagues from the region to report their cases to understand better the phenotype–genotype and the natural history of this disorder in this part of the world.