Publications by authors named "Emregul Isık"
Article Synopsis
- This study focuses on 17α Hydroxylase/17,20 Lyase Deficiency (17OHD), a rare form of adrenal hyperplasia, highlighting its clinical features such as delayed puberty and hypertension commonly diagnosed in late adolescence.
- Researchers analyzed data from 97 cases across the country, revealing that hypertension was present in 65% and hypokalemia in 34% of patients, with a significant number requiring antihypertensive treatment.
- The findings suggest that early diagnosis can be guided by hypertension and hypokalemia, while the final heights of patients generally fall within normal ranges, though the connection between genetic mutations and clinical outcomes remains unclear.
Introduction: The diagnostic yield of genetic analysis in the evaluation of children with short stature depends on associated clinical characteristics, but the additional effect of parental consanguinity has not been well documented.
Methods: This observational case series of 42 short children from 34 consanguineous families was collected by six referral centres of paediatric endocrinology (inclusion criteria: short stature and parental consanguinity). In 18 patients (12 families, group 1), the clinical features suggested a specific genetic defect in the growth hormone (GH) insulin-like growth factor I (IGF-I) axis, and a candidate gene approach was used.
Long-term Growth Hormone Therapy in a Patient with Deletion Accompanied by Delayed Puberty and Central Hypothyroidism.
J Clin Res Pediatr Endocrinol
December 2024
Insulin-like growth factor-1 (IGF-1) is the main driver of growth during prenatal life and acts through IGF-1 receptor (). Patients with defects exhibit variable phenotypic features. A 10.
View Article and Find Full Text PDFRelationship between Quantitative Sonographic Measurements and Serum Biochemical Parameters in Childhood Obesity.
Pediatr Gastroenterol Hepatol Nutr
September 2021
Purpose: We investigated the relationship between sonographic measurements of fatty liver and body mass index standard deviation score (BMI-Z score), abdominal wall fat thickness (AWFT), and serum biochemical parameters in childhood obesity.
Methods: Anthropometric, laboratory, and ultrasonography data were obtained from 174 children with BMI-Z score >1. After the qualitative grading of hepatosteatosis (grades 0-3), the quantitative liver-kidney echogenicity ratio (LKER) was calculated using a software tool.
Background: Given the rarity of 11β-hydroxylase deficiency (11βOHD), there is a paucity of data about the differences in clinical and biochemical characteristics of classic (C-11βOHD) and nonclassic 11βOHD (NC-11βOHD).
Objective: To characterize a multicenter pediatric cohort with 11βOHD.
Method: The clinical and biochemical characteristics were retrospectively retrieved.
Article Synopsis
- Idiopathic hypogonadotropic hypogonadism (IHH) leads to absent puberty and infertility due to a lack of gonadotropin-releasing hormone (GnRH), and can be associated with conditions like Kallmann syndrome.* -
- Researchers identified ten rare variants in the genes SEMA3F and PLXNA3 among IHH patients, suggesting these genetic changes may disrupt signaling that is crucial for the development and function of GnRH and olfactory systems.* -
- The study concluded that signaling from Semaphorin-3F through receptors PLXNA1-A3 is important for guiding GnRH neurons and olfactory nerve fibers, indicating that deficiencies in this signaling could be a factor in the development of I
Signal peptide-CUB-EGF domain-containing protein 3 (SCUBE3) is a member of a small family of multifunctional cell surface-anchored glycoproteins functioning as co-receptors for a variety of growth factors. Here we report that bi-allelic inactivating variants in SCUBE3 have pleiotropic consequences on development and cause a previously unrecognized syndromic disorder. Eighteen affected individuals from nine unrelated families showed a consistent phenotype characterized by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies.
View Article and Find Full Text PDFArticle Synopsis
- Idiopathic hypogonadotropic hypogonadism (IHH) includes two forms: normosmic IHH and Kallmann syndrome, with genetic mutations as a primary cause.
- The study examined 215 IHH patients for PLXNA1 gene variants, identifying eight novel and two known variants in nine individuals from seven families, with varying olfactory functions.
- Results suggest that PLXNA1 variants are linked to both forms of IHH and occur frequently, indicating their role alongside other gene variants in causing the disease.
Article Synopsis
- * SIRT1, a protein involved in cellular regulation, may influence the production of growth hormones like GH and IGF-1, and lower levels of SIRT1 are connected to short stature.
- * Visfatin, which is related to fat tissue, decreases in individuals with short stature potentially due to lower adipose tissue, impacting growth and development outcomes.
Article Synopsis
- * A case study presented a child with CHI diagnosed at birth who developed diabetes at age nine due to a new mutation, affecting family members who also have diabetes or hypoglycemia.
- * Long-term management and monitoring are crucial for patients with these genetic mutations, as they may experience varying symptoms and have an increased risk of developing diabetes later in life.
Article Synopsis
- ACLSD is linked to moderate short stature, delayed puberty, and low serum levels of IGF-I, ALS, and extremely low IGFBP-3, while its impact on birth weight and head circumference remains unclear.
- Researchers studied five Turkish families with different mutations to gather clinical and biochemical data, revealing key patterns related to growth and hormone levels.
- The study found that individuals with ACLSD had significantly lower height, head circumference, and serum hormone levels compared to those with partial ACLSD, but both groups had similar bone mineral density.
Context: Primary adrenal insufficiency (PAI) is a life-threatening condition that is often due to monogenic causes in children. Although congenital adrenal hyperplasia occurs commonly, several other important molecular causes have been reported, often with overlapping clinical and biochemical features. The relative prevalence of these conditions is not known, but making a specific diagnosis can have important implications for management.
View Article and Find Full Text PDFThyroid hormone resistance (THR) is a dominantly inherited syndrome characterized by reduced sensitivity to thyroid hormones. It is usually caused by mutations in the thyroid hormone receptor beta (THRB) gene. In the present report, we describe the clinical and laboratory characteristics and genetic analysis of patients with a novel THRB gene mutation.
View Article and Find Full Text PDF17-beta-Hydroxysteroid dehydrogenase type 3 (17betaHSD-3) converts delta4 androstenedione (A) to testosterone (T) in the testes. This enzyme plays a key role in androgen synthesis and it is essential for normal fetal development of male genitalia. 17betaHSD-3 deficiency is a rare cause of 46,XY disorders of sexual development.
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- Influenza significantly impacts children, particularly those with chronic conditions like asthma, yet vaccination rates remain low despite various efforts.
- A study surveyed caregivers of children with asthma, revealing a 69.5% lifetime vaccination rate but only 51.8% for the current season, with a strong influence from physician recommendations on their decisions.
- Parental beliefs played a crucial role in vaccination choices, highlighting the need for increased awareness and education to improve vaccination rates, especially among children with asthma.