Congenital Adrenal Hyperplasia with Combined 21-hydroxylase deficiency and 17α-hydroxylase/17,20-lyase deficiency: An undervirilized male.

21-hydroxylase deficiency stands as the most prevalent form of congenital adrenal hyperplasia, primarily resulting from mutations in the CYP21A2 gene. On the other hand, mutations within the CYP17A1 gene lead to 17α-hydroxylase/17,20-lyase enzyme deficiencies. The scarcity of 17-OH deficiency is noteworthy, accounting for less than 1% of all congenital adrenal hyperplasia cases. The male patient, born from a first-degree cousin marriage, exhibited several symptoms, including left undescended testis, micropenis, penile chord, left sensorineural hearing loss, and gynecomastia. He reported micropenis as a concern at the age of 13.5 years. His hormone profile revealed high levels of serum 17-hydroxyprogesterone, progesterone, and pregnenolone. In this case with a 46 XY karyotype, suspicions arose regarding Cytochrome P450 oxidoreductase deficiency due to ambiguous genitalia and an atypical hormone profile. Analysis unveiled two distinct homozygous and pathogenic variants in the CYP21A2 and CYP17A1 genes. Notably, mineralocorticoid precursors escalated, while cortisol and sex steroid precursors decreased during the high (250 mcg) dose ACTH stimulation test. The mutation c.1169C > G (p.Thr390Arg) in CYP17A1, which is the second documented case in literature, stands out due to its unique set of accompanying features. Mutations occurring in CYP21A2 and CYP17A1 result in complete or partial enzyme deficiencies, and the detection of homozygous mutations in two different enzyme systems within the steroidogenic pathway is noteworthy.

Triponderal mass index is as strong as body mass index in the determination of obesity and adiposity.

OBJECTIVE: In determining obesity and body adiposity, triponderal mass index (TMI) is as strong an anthropometric measurement as body mass index (BMI). The aim of this study was to develop TMI reference values for Turkish children and adolescents and compare TMI with BMI according to body adiposity and obesity indices. METHODS: Data from the DAMTCA-II (Determination of Anthropometric Measurements of Turkish Children and Adolescents II) study were used in this cross-sectional study. Data from 4330 children (1931 boys, 2399 girls) ages 6 to 17 y were evaluated, and the TMI percentile values were produced. The predictive power of TMI and BMI for obesity and overweight were done for waist circumference, waist/height ratio, body fat percentage, and upper arm fat area, which are different parameters used to determine body adiposity. RESULTS: The 3rd, 5th, 10th, 25th, 50th, 75th, 85th, 90th, 95th, and 97th TMI percentiles and mean values were calculated for all children's age and sex. TMI cutoff values were calculated by receiver operating characteristic analysis regarding waist/height ratio 0.5, waist circumference ≥90 percentile, arm fat area ≥85 percentile, and body fat percentage ≥85. TMI and BMI area under the curve values were similar for each of these four measurements. TMI was as robust an index as BMI in demonstrating obesity and adiposity for all age groups in boys and girls. It was concluded that the values >90th percentile (median 15.8 kg/m3) in girls aged ≤10 y, 95th percentile (median 16.2 kg/m3) in girls aged >10 y, >85th percentile (median 14.9 kg/m3) in boys aged ≤12 y and 75th percentile (median value 14.5 kg/m3) in boys aged >12 y are critical values for TMI when evaluating adiposity and obesity. CONCLUSIONS: We considered that TMI is as effective as BMI in terms of waist/height ratio, waist circumference, arm fat area, and body fat percentage in determining overweight and obesity in children. The ages at which TMI showed distinct variation were determined for both sexes.

The effects of diet quality and dietary acid load on insulin resistance in overweight children and adolescents.

INTRODUCTION: This study aimed to investigate the association of diet quality (DQ) and dietary acid load (DAL) with insulin resistance (IR) in overweight children and adolescents. MATERIALS AND METHODS: The study was conducted on 135 overweight participants aged 6-17 years. DQ was assessed using the Healthy Eating Index 2015 (HEI-2015) and the HEI-2015-TUBER, revised in accordance with the Turkey Dietary Guidelines (TUBER). Estimation of DAL was made calculating the potential renal acid load (PRAL) and net endogenous acid production (NEAP) scores. RESULTS: The HEI-2015-TUBER score was lower in those with IR than in those without IR (p=0.021). Higher PRAL and NEAP scores were found in those with IR (p=0.060 and p=0.044, respectively). Moreover, a one-unit increase in the HEI-2015-TUBER score and the DAL score was associated with a reduction of 4.2% and a rise of approximately 3% in IR risk, respectively. CONCLUSIONS: Healthy eating habits in overweight paediatric groups may help to reduce the IR risk, improving DQ and decreasing DAL.

Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.

PURPOSE: We aimed to investigate the molecular basis underlying a novel phenotype including hypopituitarism associated with primary ovarian insufficiency. METHODS: We used next-generation sequencing to identify variants in all pedigrees. Expression of Rnpc3/RNPC3 was analyzed by in situ hybridization on murine/human embryonic sections. CRISPR/Cas9 was used to generate mice carrying the p.Leu483Phe pathogenic variant in the conserved murine Rnpc3 RRM2 domain. RESULTS: We described 15 patients from 9 pedigrees with biallelic pathogenic variants in RNPC3, encoding a specific protein component of the minor spliceosome, which is associated with a hypopituitary phenotype, including severe growth hormone (GH) deficiency, hypoprolactinemia, variable thyrotropin (also known as thyroid-stimulating hormone) deficiency, and anterior pituitary hypoplasia. Primary ovarian insufficiency was diagnosed in 8 of 9 affected females, whereas males had normal gonadal function. In addition, 2 affected males displayed normal growth when off GH treatment despite severe biochemical GH deficiency. In both mouse and human embryos, Rnpc3/RNPC3 was expressed in the developing forebrain, including the hypothalamus and Rathke's pouch. Female Rnpc3 mutant mice displayed a reduction in pituitary GH content but with no reproductive impairment in young mice. Male mice exhibited no obvious phenotype. CONCLUSION: Our findings suggest novel insights into the role of RNPC3 in female-specific gonadal function and emphasize a critical role for the minor spliceosome in pituitary and ovarian development and function.

Evaluation of micronutrient levels in children and adolescents with obesity and their correlation with the components of metabolic syndrome.

BACKGROUND: Obesity is a significant public health problem worldwide. Vitamin deficiencies, developing due to monotype nutrition, are more likely to be observed in patients than healthy children. The present study evaluates vitamin and micronutrient levels in children and adolescents with obesity and metabolic syndrome compared to healthy controls. METHODS: The study included 73 patients with obesity, 64 patients with metabolic syndrome and 71 healthy children (control group) aged 10 to 16 years. Physical examinations were performed, and waist circumference and systolic blood pressure measurements were recorded. Fasting blood glucose, triglyceride, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, total cholesterol, insulin, vitamin A, vitamin E, vitamin B1, vitamin B2, vitamin B6, vitamin B12, folic acid and free carnitine levels were analyzed. The homeostatic model of assessment-insulin resistance (HOMA-IR) index was calculated and recorded. RESULTS: The mean age of all patients was 11.9±2.6 years. The serum insulin level and HOMA-IR index were found to be significantly higher in the obesity and metabolic syndrome groups. No significant difference was found between the groups in terms of vitamin A, vitamin B6 and free carnitine levels. Significantly decreased vitamin E, vitamin B2, vitamin B12 and folic acid and increased vitamin B1 levels were observed in the obesity and metabolic syndrome groups. CONCLUSIONS: Compared to healthy children, children with obesity and metabolic syndrome may have varying degrees of micronutrient and vitamin deficiency due to poor and unbalanced eating habits. These deficiencies should also be considered in the treatment and follow-up of obesity and metabolic syndrome.

Breakfast and dinner insulin index and insulin load in relation to overweight in children and adolescents.

PURPOSE: Hyperinsulinemia is related to the development of several chronic diseases, particularly obesity. Therefore, this study aimed to examine the association between the insulinemic potential of both total diet and meals, measured by the glycemic index (GI), glycemic load (GL), insulin index (II), and insulin load (IL), and overweight risk among children and adolescents. METHODS: This cross-sectional study was conducted on 205 overweight and 146 normal-weight participants aged 6-18 years. Overweight was defined as body mass index ≥ 85th percentile of Turkish growth-reference data. Through the use of standard methodology, dietary and meal GI, GL, II, and IL were derived from dietary data collected via a 3-day dietary record. Associations were investigated using multivariable-adjusted regression analysis. RESULTS: When controlling for potential covariates, a greater dietary II (OR 2.69, 95% CI 1.28, 5.68) and IL (OR 5.22, 95% CI 2.39, 11.38), as well as GL (OR 3.89, 95% CI 1.77, 8.56), was strongly associated with higher odds of overweight (both Pfor trend < 0.001). Furthermore, breakfast GL (OR 4.87, 95% CI 2.15, 11.01), II (OR 3.88, 95% CI 1.79, 8.39), IL (OR 4.93, 95% CI 2.20, 11.05) and dinner GL (OR 2.39, 95% CI 1.10, 5.20), II (OR 3.81, 95% CI 1.73, 8.41), IL (OR 3.63, 95% CI 1.67, 7.91) were found to be a significant independent predictor of overweight (all Pfor trend < 0.001) in pediatric population. CONCLUSION: Our results suggest that dietary insulin demand, particularly for breakfast and dinner, was independently associated with overweight in children and adolescents. These findings may shed light on the relevance of considering meal insulin demand while developing dietary strategies in this population.

Endocrine Disruptors and Polycystic Ovary Syndrome: Phthalates

Objective: We aimed to investigate a possible role of the endocrine disruptors phthalates, di-2-ethylhexyl phthalate (DEHP) and mono (2-ethylhexyl) phthalate (MEHP), in polycystic ovary syndrome (PCOS) aetiopathogenesis. We also wished to evaluate the relationship between phthalates and metabolic disturbances in adolescents with PCOS. Methods: A total of 124 adolescents were included. Serum MEHP and DEHP levels were determined by high-performance liquid chromatography. Insulin resistance was evaluated using homeostasis model assessment-insulin resistance, quantitative Insulin Sensitivity Check Index, fasting glucose/insulin ratio, Matsuda index, and total insulin levels during oral glucose tolerance test. Participants were further subdivided into lean and obese subgroups according to body mass index (BMI). Results: Sixty-three PCOS and 61 controls, (mean age 15.2±1.5; range: 13-19 years) were enrolled. Serum DEHP and MEHP concentrations were not significantly different between PCOS and control groups. The mean (95% confidence interval) values of DEHP and MEHP were 2.62 (2.50-2.75) µg/mL vs 2.71 (2.52-2.90) µg/mL and 0.23 (0.19-0.29) µg/mL vs 0.36 (0.18-0.54) µg/mL in PCOS and the control groups respectively, p>0.05. Correlation analysis, adjusted for BMI, showed that both phthalates significantly correlated with insulin resistance indices and serum triglycerides in adolescents with PCOS. Conclusion: Serum DEHP and MEHP concentrations were not different between adolescents with or without PCOS. However, these phthalates are associated with metabolic disturbances such as dyslipidemia and insulin resistance, independently of obesity, in girls with PCOS.

Transient endocrinologic problems in the newborn period.

Many transient endocrinologic disorders are frequently seen in newborn period. Early diagnosis and treatment is important for babies. In this article, transient endocrinopathy of newborn and relevant literature were reviewed. Blood sugar problems, especially adrenal insufficiency due to adrenal problems, thyroid problems such as transient hypotirotropinemia, are frequently encountered by physicians. Genital and urinary problems should be evaluated differently according to gender. Problems related to calcium metabolism, problems associated with water metabolism and endocrine skin problems are other problems. It is essential to know the normals of the hormones in the neonatal period in order to recognize them properly, to evaluate them properly and to interpret the tests correctly.

Yenidogan döneminde bir dizi geçici endokrin sorun oldukça sik görülmektedir. Olgularin dogru taninmasi ve uygun tedavisi önem tasimaktadir. Yazida yenidoganin geçici endokrin sorunlarina deginilmis ve ilgili dizinler gözden geçirilmistir. Kan sekeri sorunlarindan geçici hipoglisemi ve hiperglisemi, sürrenal sorunlardan özellikle görece adrenal yetmezlik, geçici hipotirotropinemi gibi tiroid sorunlari hekimlerin sikça karsi karsiya geldigi sorunlardir. Genital ve üriner sorunlar cinsiyete göre farkli yorumlanmalidir. Kalsiyum metabolizmasi ile iliskili sorunlar, su metabolizmasi ile iliskili sorunlar ve endokrin cilt sorunlari da görülebilen diger sorunlardir. Bunlarin taninmasi, uygun sekilde degerlendirilmesi ve tetkiklerin dogru yorumlanabilmesi için hormonlarin yenidogan dönemindeki normallerinin bilinmesi elzemdir.

A potential serious complication in infants with congenital obstructive uropathy: Secondary pseudohypoaldosteronism.

Patients who have secondary pseudohypoaldosteronism (PHA) in addition to hyponatraemia, hyperpotassaemia and high serum aldosterone levels for the age were included in this retrospective study.Among eight patients, seven patients were diagnosed with PHA secondary to obstructive uropathy (OUP), whereas one patient had PHA secondary to ileostomy. Six patients with OUP had simultaneous urinary tract infection (UTI) and in all except one patient, secondary PHA recovered with only UTI treatment before applying surgical correction. All the patients were younger than 3 months age. In three patients with PUV diagnosis, salt wasting recurred in an UTI episode under 3 months of age.

Neonatal Hypopituitarism: Approaches to Diagnosis and Treatment

Hypopituitarism is defined as a decreased release of hypophyseal hormones, which may be caused by disease of the pituitary gland disease or hypothalamus. The clinical findings of neonatal hypopituitarism depend on the causes and on presence and extent of hormonal deficiency. Patients may be asymptomatic or may demonstrate non-specific symptoms, but may still be at risk for development of pituitary hormone deficiency over time. Patient history, physical examination, endocrinological, radiological and genetic evaluations are all important for early diagnosis and treatment. The aim of this paper was to present a review of etiological factors, clinical findings, diagnosis and treatment approaches in neonatal hypopituitarism.

Obestatin Reduces Intestinal Damage in Experimental Necrotizing Enterocolitis in Newborn Rats.

OBJECTIVE: To investigate the effect of pretreatment with obestatin (OB), an endogenous hormone also found in mother's milk, in experimental necrotizing enterocolitis (NEC). STUDY DESIGN: Pups were randomized into four groups: control, OB-control, NEC, and OB-NEC. NEC was induced by asphyxia and hypothermia in the NEC and OB-NEC groups. OB was administered to the OB-control and OB-NEC groups. Macroscopic scoring of the intestinal tract was evaluated and tissue samples were obtained for histopathological and biochemical examination on the fourth day. RESULTS: OB improved the macroscopic appearance of the gut and the clinical score during the experiment (p < 0.05). The rate of occurrence of NEC in the OB-NEC group was lower than the NEC group (p = 0.001). OB prevented necrosis and reduced the number of apoptotic cells in the OB-NEC group compared with the NEC group (p = 0.006). Furthermore, interleukin-6 and malondialdehyde levels in the OB-NEC group were lower than the NEC group (p < 0.05). CONCLUSION: OB reduced intestinal damage and prevented necrosis through anti-inflammatory and antiapoptotic effects in experimental NEC. This effect of OB should be confirmed in clinical studies. Furthermore, future research should investigate whether OB plays a role in NEC pathogenesis or NEC is associated with OB levels in the serum and in breast milk.

Arrhythmia in thiamine responsive megaloblastic anemia syndrome.

Argun M, Baykan A, Hatipoglu N, Akin L, Sahin Y, Narin N, Kurtoglu S. Arrhythmia in thiamine responsive megaloblastic anemia syndrome. Turk J Pediatr 2018; 60: 348-351. Thiamine responsive megaloblastic anemia syndrome (TRMAS) is a rare, autosomal recessive disorder characterized by megaloblastic anemia, diabetes mellitus, and progressive sensorineural deafness. Mutations in the SLC19A2 gene that codes for thiamine transporter 1 protein cause TRMAS, and more than 30 homozygous mutations have been identified to date. Congenital heart diseases and arrhythmias have been reported in few patients. We present cardiac features of five patients with TRMAS. Five patients had macrocytic anemia, diabetes mellitus, and sensorineural deafness. Two siblings had also optic atrophy. SLC19A2 gene mutation was shown in all patients. Two patients developed supraventricular tachycardia during an episode of diabetic ketoacidosis. Five patients had absent P waves on baseline electrocardiography, and one patient had additional low QRS voltage. None of the patients had structural heart disease. Discontinuation of thiamine treatment appears to trigger supraventricular tachycardia episodes at puberty.

The Brazelton Neonatal Behavioral Assessment Scale: A validity and reliability study in a Turkish sample

Background/aim: The aim of the Brazelton Neonatal Behavioral Assessment Scale (BNBAS) is to gather a comprehensive profile of neonatal functioning by describing the full range of neonatal behavior, including competencies and strengths, as well as difficulties or deviations. This instrument has proved to be of great clinical value by detecting infants at risk for later developmental problems. This work was conducted methodologically with the aim of a Turkish validity and reliability study of the BNBAS. Materials and methods: The study was conducted in a large tertiary hospital in Turkey. After establishing content and language validity, the BNBAS was applied to 380 newborns aged 1­3 days and test­retest analysis was performed for 60 newborns 52­55 days later in the first phase. The validity and reliability study of the BNBAS included behavior and support subscales, while reflex items were not included. Results: In the study, 5 items were excluded from the original BNBAS after the factor analysis. Cronbach alpha was found as 0.974 (30 items). The behavior subscale consisted of 23 items and the support subscale consisted of 7 items. Newborns showed good overall tone and activity level and low amounts of irritable behavior. Conclusion: It may be recommended to use the BNBAS as a valid and reliable measurement tool in neonatal behavioral evaluation by physicians and nurses.

The Role of Irisin, Insulin and Leptin in Maternal and Fetal Interaction

Objective: Insulin is an important hormone for intrauterine growth. Irisin is an effective myokine in the regulation of physiological insulin resistance in pregnancy. Leptin and insulin are associated with fetal growth and fetal adiposity. In this study, we aimed to investigate the relationships between irisin, insulin and leptin levels and maternal weight gain, as well as anthropometric measurements in the newborn. Methods: Eighty-four mothers and newborns were included in the study. Irisin, leptin and insulin levels were measured in the mothers and in cord blood. Anthropometric measurements in the newborn, maternal weight at the beginning of the pregnancy and at delivery were recorded. Results: Birth weight were classified as small for gestational age (SGA), appropriate for gestational age (AGA) and large for gestational age (LGA). There was no difference in irisin levels among the groups. Leptin and insulin levels were found to change significantly according to birth weight (p=0.013, and p=0.012, respectively). There was a negative correlation between the anthropometric measurements of the AGA newborns and irisin levels. This correlation was not observed in SGA and LGA babies. Leptin levels were associated with fetal adiposity. Conclusion: While irisin levels are not affected by weight gain during pregnancy nor by birth weight, they show a relationship with anthropometric measurements in AGA infants. These results may lead to the understanding of metabolic disorders that will occur in later life.

Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1.

The basic helix-loop-helix (bHLH) transcription factor, neuronal differentiation 1 (NEUROD1) (also known as BETA2) is involved in the development of neural elements and endocrine pancreas. Less than 10 reports of adult-onset non-insulin-dependent diabetes mellitus (NIDDM) due to heterozygous NEUROD1 mutations and 2 cases with permanent neonatal diabetes mellitus (PNDM) and neurological abnormalities due to homozygous NEUROD1 mutations have been published. A 13 year-old female was referred to endocrine department due to hyperglycemia. She was on insulin therapy following a diagnosis of neonatal diabetes mellitus (NDM) at the age of 9-weeks but missed regular follow-up. Parents are second cousin. There was a significant family history of adult onset NIDDM including patient's father. Auxological measurements were within normal ranges. On laboratory examination blood glucose was 33.2 mmol/L with undetectable c-peptide and glycosylated hemoglobin level of 8.9% (73.8 mmol/mol). She had developed difficulty in walking at the age of 4 years which had worsened over time. On further evaluation, a diagnosis of visual impairment, mental retardation, ataxic gait, retinitis pigmentosa and sensory-neural deafness were considered. Cranial magnetic resonance imaging revealed cerebellar hypoplasia. Molecular genetic analysis using targeted next generation sequencing detected a novel homozygous missense mutation, p.Ile150Asn(c.449T>A), in NEUROD1. Both parents and 2 unaffected siblings were heterozygous for the mutation. We report the third case of PNDM with neurological abnormalities caused by homozygous NEUROD1 mutation, the first caused by a missense mutation. Heterozygous carriers of the p.Ile150Asn mutation were either unaffected or diagnosed with diabetes in adulthood. It is currently unclear whether the NEUROD1 heterozygous mutation has contributed to diabetes development in these individuals.

ROHHAD Syndrome, a Rare Cause of Hypothalamic Obesity: Report of Two Cases

Rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) syndrome is a rare disease that is difficult to diagnosis and distinguish from genetic obesity syndromes. The underlying causes of the disease have not been fully explained. Hypothalamic dysfunction causes endocrine problems, respiratory dysfunction and autonomic alterations. Currently there are around 80 reported patients although this is likely due to underdiagnosis due to lack of recognition. We present two female patients suspected of ROHHAD due to weight gain starting in early childhood. Clinical and biochemical findings such as respiratory and circulatory dysfunction, hypothalamic hypernatremia, central hypothyrodism, hyperprolactinemia and central early puberty in these patients matched the criteria for ROHHAD syndrome. ROHHAD syndrome should be considered in the differential diagnosis of monogenic obesity.

A Study of the Relationship Between Cystatin C and Metabolic Bone Disease in Preterm Infants

OBJECTIVE: Cystatin C (CysC) is commonly used as a marker of renal failure in premature infants. The aim of this study was to investigate serum CysC levels in osteopenia of prematurity (OP) and determine whether CysC could be safely used as a marker of renal insufficiency in infants with OP. METHODS: Subjects were 50 preterm infants (≤32 gestational weeks). Calcium (Ca), phosphorus (P) and alkaline phosphatase (ALP) serum levels were measured in postnatal week nine, and bone density was measured concurrently by quantitative ultrasonography. Patients with a Z score of <-2 were considered to have OP. RESULTS: The mean serum CysC levels in preterm infants in postnatal week nine were 1.50±0.19 mg/L. Serum CysC levels were not correlated with speed of sound values, Z scores, serum Ca, P or ALP levels. Serum CysC levels were not significantly different between infants with OP [1.50 (1.35-1.61) mg/L] and in infants without OP [1.58 (1.28-1.70) mg/L]. CONCLUSION: The presence of OP does not affect the safety of CysC as a marker of renal insufficiency in preterm infants.

The Relationship Between Blood Pressure and Sleep Duration in Turkish Children: A Cross-Sectional Study.

OBJECTIVE: As in adults, hypertension is also an important risk factor for cardiovascular disease in children. We aimed to evaluate the effect of sleep duration on blood pressure in normal weight Turkish children aged between 11-17 years. METHODS: This cross-sectional study was conducted in the primary and secondary schools of the two central and ten outlying districts of Kayseri, Turkey. Subjects were 2860 children and adolescents (1385 boys, 1475 girls). Systolic and diastolic blood pressures were measured according to the recommendations of the Fourth Report of the National High Blood Pressure Education Program Working Group on High Blood Pressure in Children and Adolescents. Sleep duration was classified as follows: ≤8 hours, 8.1-8.9 hours, 9.0-9.9 hours or ≥10 hours. RESULTS: For short sleeper boys and girls (participants with a sleep duration ≤8 h) the prevalence of prehypertension and hypertension was 35.0% and 30.8%, respectively. In univariate binary logistic regression analyses (age-adjusted), each unit increment in sleep duration (hours) in boys and girls, decreased the prehypertension and hypertension risk by 0.89 [odds ratio (OR)] [confidance interval (CI); 0.82-0.98] and 0.88 (OR) (CI; 0.81-0.97), respectively (p<0.05). In multiple binary logistic regression analyses [age- and body mass index (BMI)-adjusted] the location of the school and sleep duration categories were shown to be the most important factors for prehypertension and hypertension in both genders, while household income was the most important factor, only in boys. CONCLUSIONS: A sleep duration ≤8 h is an independent risk factor for prehypertension and hypertension in Turkish children aged 11-17 years.

Short-term Refractive Effects of Propranolol Hydrochloride Prophylaxis on Retinopathy of Prematurity in Very Preterm Newborns.

PURPOSE: Retinopathy of prematurity (ROP) is one of the major problems of surviving premature infants with several ophthalmic morbidities such as increased risk of refractive errors, strabismus, and cortical visual impairment. Use of propranolol hydrochloride (PH) for the prevention of ROP is a new promising treatment modality. However, long-term effects are still to be defined. In our study, we aimed to investigate the short-term refractive effects of PH used for ROP prophylaxis in very preterm newborns. METHODS: This is a prospective, randomized, double-blind, placebo-controlled study. Very preterm newborns with a birthweight less than or equal to 1500 g and/or born prior to 32 gestational weeks were included in the study. The subjects were randomly divided into two groups: control group (CG, n = 37) given placebo and PH group (PHG, n = 34) given PH starting from 4 weeks after birth (27.1 ± 2.1 day). PHG patients received PH therapy for about 1 month (25.7 ± 7.8 day). Anthropometric measurements including weight, length, and head circumference were recorded before PH treatment (at birth) and during eye control (at corrected age). Cycloplegic refraction values were measured by retinoscopy at corrected age (CG: 10.3 ± 4.3 months, PHG: 11.4 ± 4.8 months). RESULTS: Anthropometric measurements including gestational age, weight, length, and head circumference were similar at birth and corrected age in both groups. The mean level of spherical refraction was significantly less hyperopic in the PHG than in the CG (CG: 1.37 ± 1.40 D, PHG: 0.37 ± 1.44 D) (p = 0.005). CONCLUSION: PH may lead to myopic shift by affecting the beta-adrenergic receptors in the choroid or ciliary body of the developing eye. Long-term refractive follow-up is required in order to elucidate the effects of PH on emmetropization process of these very preterm infants.

Effects of Lycopene in Hyperoxia-Induced Lung Injury in Newborn Rats.

The aim of this study was to evaluate the therapeutic effect of lycopene on a hyperoxia-induced lung injury model in rat pups. Full-term rat pups were included in the study 12-24 h after delivery. The pups were separated into 4 groups: normoxia control (NC), hyperoxia control (HC), hyperoxia + lycopene (HL), and normoxia lycopene (NL). The normoxia groups were housed in ambient air, and the hyperoxia groups in > 85% O2. HL and NL groups received 50 mg lycopene in oil/kg body weight/day delivered intraperitoneally (i.p.), the other groups received oil alone. On day 11, the rat pups were sacrificed and their lungs removed. Statistically significant injury was observed in all histological parameters measured (MLI, proliferating cell nuclear antigen (PCNA), and apoptosis) in the HC group (HC vs NC, p = 0.001). This injury could not be reversed with lycopene treatment (HC vs HL, 0.05; NC vs HL, p = 0.001). With hyperoxia, statistically significant decreases were observed in biochemical parameters in terms of SOD, MDA, and IL-6 values (HC vs NC: SOD, p = 0.02; MDA, p = 0.043; IL-6, p = 0.001). The use of lycopene did not provide any improvement in these values (HC vs HL, p > 0.05). Hyperoxia or lycopene had no effect on IL-1ß and GPx (p > 0.05). When comparing NC and NL groups, negative effects were observed in the group given lycopene in terms of MLI, PCNA, apoptosis, and IL-6 (all parameters, p = 0.001). We observed that 50 mg lycopene in oil/kg body weight/day given via i.p. had no curative effect on the hyperoxia-induced lung injury in newborn rats and may even induce adverse effects.