Aylin Kılınç Uğurlu

Short stature homeobox‐containing ( SHOX) -gene haploinsufficiency causes short stature both in isolated SHOX deficiency and in Turner syndrome (TS), yet head-to-head data on growth-hormone (GH) outcomes remain scarce. We therefore compared growth response and near-final height (NFH) after GH therapy between girls with SHOX deficiency and those with TS. Single-centre retrospective cohort study. In this single-centre retrospective cohort, we reviewed 44 pre-pubertal girls who received daily GH (mean 0.045 mg/kg/day) between 2015 and 2024 and subsequently reached NFH (bone age ≥ 14 y; height velocity < 2 cm/year). Ten had molecularly confirmed SHOX deficiency and 34 had karyotype-proven TS. Baseline auxology, annual height velocity, pubertal timing, treatment duration, NFH standard-deviation score (SDS) and total height SDS gain were analysed. Mean chronological and bone ages at GH initiation were similar (10.7 ± 1.9 vs 10.4  ±  2.7 years). Baseline height SDS was lower in TS (–3.51 ± 1.0) than in SHOX ( – 2.66 ± 0.8). First-year growth velocity was higher in SHOX (8.55 ± 1.4 cm/year) than TS (6.72 ± 1.9 cm/year; p = 0.01). Puberty began earlier in SHOX (11.6 ± 1.3 years) than TS (13.7 ± 1.5 years; p < 0.01), and GH exposure was shorter (2.00 ± 0.4 vs 4.38 ± 2.3; p < 0.01). Observed NFH-SDS was similar between groups ( SHOX − 2.46 ± 1.2 vs TS − 2.47 ± 1.0). Unadjusted height-SDS gain was greater in TS (1.04 ± 0.1 vs 0.20 ± 0.2 ; p = 0.04). In exploratory ANCOVA models adjusting for baseline age, baseline height SDS, and GH treatment duration , adjusted height-SDS gain did not differ significantly between groups. Conclusions : TS was associated with a greater unadjusted height-SDS gain, whereas SHOX deficiency was characterized by earlier puberty and shorter GH exposure. Although observed NFH-SDS was similar, these findings highlight how differences in pubertal timing and treatment duration may influence growth outcomes in routine clinical practice and should be interpreted as reflecting real-world growth trajectories rather than intrinsic biological responsiveness to GH therapy. What is Known: • Growth hormone therapy is an established treatment for short stature in both  SHOX  deficiency and Turner syndrome. • Treatment response is influenced by several factors, including age at treatment initiation and pubertal development. What is New: • This study provides a real-world comparison of growth hormone treatment outcomes in girls with  SHOX  deficiency  and Turner syndrome. • Spontaneous pubertal progression in  SHOX deficiency versus medically induced puberty in Turner syndrome may  substantially influence the duration of the therapeutic growth window and the observed growth response.

Associations Between Dietary Diversity Score and Adiposity Indexes in Obese Adolescents - Journal of Clinical Research in Pediatric Endocrinology

Objective: Small for gestational age (SGA) is a heterogeneous condition influenced by fetal, placental, maternal, and genetic factors. While most SGA children experience catch-up growth within the first two years, up to 10-15% remain short-statured and may require growth hormone (GH) therapy. This study evaluated the clinical characteristics, genetic factors, and responses to recombinant GH (rGH) therapy in non-syndromic SGA children with persistent short stature. Material and Methods: We retrospectively analyzed 36 non-syndromic short-statured children born SGA who were evaluated in a tertiary center. Genetic testing, including karyotyping and microarray analysis for copy number variations (CNVs), was performed. Growth response to rGH therapy was assessed in 19 patients over a three-year period. Results: Among the 19 patients receiving rGH therapy, the mean height SDS improved from -3.04±0.58 at baseline to -2.07±0.67 after three years, with an average gain of 0.97 SDS. CNVs were identified in 6 patients (16.66%), with several pathogenic or likely pathogenic variants, including deletions and duplications in regions associated with growth and developmental disorders. Conclusion: A significant proportion of non-syndromic SGA children with persistent short stature exhibit CNVs, underscoring the genetic complexity of this condition. rGH therapy effectively improves growth outcomes, but individual responses vary. These findings highlight the need for routine genetic screening and personalized treatment strategies to optimize care for SGA children.

Persistent low serum alkaline phosphatase (ALP) levels are crucial in identifying genetic disorders such as hypophosphatasia (HPP). This study investigates the causes of low ALP levels in children, aiming to evaluate the demographic and clinical characteristics of those diagnosed with HPP. We evaluated 2243 children and adolescents, ranging from 0 to 19 years old between September 2019 and July 2024, who exhibited at least two ALP levels below the age- and gender-specific lower limit. In the patient group, 95.4% (2140 patients) exhibited transient low ALP levels, while 4.6% (103 patients) showed persistently low levels. In the persistent group, eleven additional medical conditions were identified, excluding HPP, with calorie depletion (anorexia, malnutrition) being the most common cause. The study identified 16 HPP patients (10 females, 6 males) with high phenotypic variability even within the same variants, comprising 0.71% of the whole group. Genetic testing identified 13 pathogenic/likely pathogenic ALPL gene variants (10 heterozygous, 3 homozygous), two of which were novel. Among HPP patients, 56.2% presented with HPP-related symptoms, most commonly short stature. We found a significant negative correlation between total ALP and serum pyridoxal phosphate (PLP) levels (Rho = − 0.55, p = 0.039), but no correlation with urine phosphoethanolamine. Persistently low ALP levels are a vital clinical indicator for a wide range of disorders, especially HPP. This study expands the phenotypic and genotypic profiles of HPP while improving our understanding of the disease in children. Increasing disease awareness, particularly for milder forms, is essential to avoid delayed diagnosis.

To evaluate demographic characteristics, clinical, laboratory, imaging features, and treatment responses of boys who were diagnosed and treated for central precocious puberty (CPP). The data were collected from pediatric endocrinology clinics in Türkiye. Patients were classified into two groups based on magnetic resonance imaging (MRI) findings, idiopathic CPP (iCPP) and organic CPP (oCPP). The oCPP group was further cathegorized into three subgroups: oCPP-confirmed, oCPP-unrelated, and oCPP-uncertain lesions. Among 232 patients, 62.9% were diagnosed with iCPP. All patients aged <3 years had oCPP-confirmed lesions. Basal luteinizing hormone (LH) and total testosterone (T) levels were higher in oCPP group than in iCPP group (p = 0.004 and p = 0.02, respectively). Basal LH, basal follicle-stimulating hormone (FSH), T, and peak LH/FSH were lower in the iCPP-obese group (p < 0.05). T differed significantly among the oCPP-confirmed, oCPP-unrelated, and oCPP-uncertain subgroups (p = 0.032). Among patients that reached final height (FH), the difference between target height (TH) standard deviation score (SDS) and FH SDS was higher in oCPP group than in iCPP group (p < 0.05). A positive correlation was found between predicted adult height at the treatment initiation and FH (r = 0.463 p = 0.020). Factors affecting FH were height SDS at the beginning of treatment, paternal height SDS, and TH SDS. The prevelance of oCPP was found lower compared with previous literature data. Currently, there is no reliable marker to predict oCPP that would allow clinicians to safely omit MRI in iCPP cases. However, boys under 3 years of age should be carefully evaluated for potential organic causes of CPP.

The First-year Outcomes of the Nationwide Neonatal CAH Screening in Türkiye: High Rate of False Positives for 21-hydroxylase Deficiency and a Higher Detection Rate of Non-classical Cases - Journal of Clinical Research in Pediatric Endocrinology

Journal of Clinical Research in Pediatric Endocrinology