Investigation on Malondialdehyde, S100B, and Advanced Oxidation Protein Product Levels in Significant Hyperbilirubinemia and the Effect of Intensive Phototherapy on these Parameters

BackgroundThe parameters of oxidative stress [advanced oxidation protein products (AOPPs), malondialdehyde (MDA), and S100B] and the effect of intensive phototherapy (PT) on these parameters have not been studied extensively in newborns with significant hyperbilirubinemia (SH). We aimed to measure the levels of MDA, S100B, and AOPPs in newborns with SH, and to compare newborns with healthy control newborns without hyperbilirubinemia on the basis of these parameters of oxidative stress. In addition, we investigated the effect of intensive PT on these parameters during the treatment of SH and report our findings for the first time in the literature.MethodsThe study was performed in newborns (n = 62) who underwent intensive PT because of SH. Newborns without jaundice constituted the control group (n = 30). Both groups were compared with respect to demographic characteristics and biochemical (laboratory) parameters including MDA, AOPPs, and S100B. MDA, AOPPs, and S100B were also compared before and after intensive PT in the PT group. In the study group, a correlation analysis of demographic characteristics; MDA, AOPP, and S100B values; and changes occurring in MDA, AOPPs, and S100B values due to the effect of intensive PT was performed.ResultsSerum total bilirubin, S100B, and MDA levels in the PT group before performing PT were significantly higher than those in the control group. In newborns receiving PT serum total bilirubin, MDA and AOPP levels decreased significantly after intensive PT. In correlation analysis, a statistically significant negative correlation was found only between the amount of bilirubin decrease with PT and AOPP levels after PT in the study group.ConclusionWhether the significant decrease in MDA levels, which was higher prior to PT, is due to the decrease in serum bilirubin levels or due to the effect of intensive PT itself remains to be determined in further studies. The decrease in AOPP levels after PT implies that intensive PT has protective effects on oxidative stress

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

Non-Classical Congenital Adrenal Hyperplasia in Childhood

Congenital adrenal hyperplasia (CAH) is classified as classical CAH and non-classical CAH (NCCAH). In the classical type, the most severe form comprises both salt-wasting and simple virilizing forms. In the non-classical form, diagnosis can be more confusing because the patient may remain asymptomatic or the condition may be associated with signs of androgen excess in the postnatal period or in the later stages of life. This review paper will include information on clinical findings, symptoms, diagnostic approaches, and treatment modules of NCCAH

Larsen syndrome associated with severe congenital hydrocephalus

Larsen syndrome associated with severe congenital hydrocephalus: Larsen syndrome (LS) is characterized by the association of flattened facies with a prominent forehead, a depressed nasal bridge and hypertelorism, dislocation of hips, elbows and knees, equinovarus or valgus deformities of the feet, long and tapering fingers, normal intelligence. Hydrocephalus has rarely been reported in association with LS. In this article, a newborn infant with the classical features of LS and severe congenital hydrocephalus is presented. Our purpose was to emphasize the importance of congenital hydrocephalus in infants with LS and to highlight the management of cases of LS associated with congenital hydrocephalus

Micropenis: Etiology, Diagnosis and Treatment Approaches

Micropenis is a medical diagnosis based on correct measurement of length. If stretched penile length is below the value corresponding to - 2.5 standard deviation of the mean in a patient with normal internal and external male genitalia, a diagnosis of micropenis is considered. Micropenis can be caused by a variety of factors including structural or hormonal defects of the hypothalamic-pituitary-gonadal axis. It can also be a component of a number of congenital syndromes. For the etiological evaluation, endocrinologic tests are important. This article reviews the etiology, diagnosis, treatment and management of micropenis

Growth hormone deficiency, situs inversus, hypertrichosis and brachydactyly

A 6 year-old female showed growth hormone deficiency, situs inversus totalis, short stature, blue sclerae, facial dismorphism, brachydactyly, developmental delay and hypertrichosis. The described phenotype represents a new syndromic situs inversus with a characteristic phenotype. Here, we present the first patient with this association in the literature

A case of Adams-Oliver syndrome associated with acrania, microcephaly, hemiplegia, epilepsy, and mental retardation

Adams-Oliver syndrome (AOS) is a rare congenital disorder, characterized by aplasia cutis congenita (ACC) of the scalp and variable degrees of terminal transverse limb defects. In this article, a newborn infant diagnosed as AOS for a large scalp defect, acrania, and finger malformations is presented. The patient was hospitalized and the scalp defect was successfully repaired with several surgical operations. During the hospitalization septicemia. meningitis, and convulsions developed, but they were successfully treated with appropriate antibiotics, antifungal. and anticonvulsive agents. He was discharged five months after admission to the hospital. Now, he is 3 years old, and has microcephaly, moderate mental retardation, left spastic hemiplegia, and epilepsy

Do not overlook Weismann-Netter syndrome in differential diagnosis of skeletal dysplasias

Weismann-Netter syndrome (WNS), a rare condition, is characterized by an anterior curvature of the bones of the lower limbs, usually bilateral and symmetrical. It was first described in 1954 by Weismann-Netter and Stuhl. We report a 2-year-old girl with typical findings of WNS who was misdiagnosed as having rickets. Our purpose is to draw attention to the WNS in the differential diagnosis of skeletal dysplasias. We think that the true incidence of WNS is probably higher than previously reported; therefore, we would like to emphasize that WNS should be considered in patients who have bowed lower extremities and have been diagnosed as having syphilis or healed rickets