Novel Compound Heterozygous Mutations of TGM1 Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform Erythroderma.

Autosomal recessive congenital ichthyosis (ARCI) is a group of diseases presenting as collodion baby at birth. ARCI is categorized as Harlequin ichthyosis, lamellar ichthyosis, and non-bullous congenital ichthyosiform erythroderma (NBCIE), bathing suit icthyosis (BSI) and others. We describe the case of a male newborn with NBCIE whose whole exome sequencing revealed two variants of TGM1 gene (NM_000359.3) in a compound heterozygous state: c.790C>T (p.Arg264Trp) in exon 5 and c.2060G>A (p.Arg687His) in exon 13. In the literature, the Arg264Trp variant has been reported as homozygous or compound heterozygous with other variants in patients with BSI. In contrast, the Arg687His variant has been reported only as homozygous in patients with BSI. To the best of our knowledge, this is the first case whose two compound heterozygous variants, exhibiting the NBCIE phenotype, instead of the BSI.

An investigation of motor development and sensory processing skills in infants with a history of hyperbilirubinemia.

BACKGROUND: Hyperbilirubinemia is a clinical picture frequently occurring in the neonatal period and may negatively affect the development of infants. AIMS: To evaluate term infants with hyperbilirubinemia in terms of both motor development and sensory processing skills and to compare them with their healthy peers without hyperbilirubinemia. STUDY DESIGN: A cross-sectional study. SUBJECTS: Children born at term, aged 10-18 months, with and without a history of hyperbilirubinemia were included in the study. OUTCOME MEASURES: After demographic information was recorded, motor development was evaluated with the Peabody Motor Development Scale-2 and sensory processing skills were evaluated with the Test of Sensory Function in Infant. RESULTS: A total of 42 children (mean ± SD age of the children 13.07 ± 1.47 months, 22 with hyperbilirubinemia and 20 without hyperbilirubinemia) were included in the study. A statistically significant difference was found in the gross motor (p = 0.02), fine motor (p = 0.03), and total motor (p = 0.017) development scores of the Peabody Motor Development Scale-2 and in the adaptive motor functions (p = 0.004), visual tactile integration (p < 0.001), and total scores (p = 0.004) of The Test of Sensory Function in Infant in favor of the control group. CONCLUSIONS: The motor and sensory processing skills of children born at term with hyperbilirubinemia may be negatively affected. Infants with hyperbilirubinemia should be evaluated from the early period not only in terms of motor but also sensory processing skills and should be supported with appropriate intervention programs.

Effect of the presence of polycystic ovary syndrome-related features on anti-Mullerian hormone and androstenedione levels in adolescents with or without menstrual irregularity.

PURPOSE: To determine the variation in anti-Mullerian hormone (AMH) and androstenedione (A4) concentrations in adolescent girls, with or without menstrual cycle disorder in relation to phenotypic features of. PCOS. METHODS: Adolescent girls (n = 129), age range 14-19 years, were recruited in the cohort study. All participants were in the 4th or 5th year after menarche. Sixty-eight had menstrual irregularities, usually oligomenorrhea (OM), and 61 had regular menstruation (RM). AMH and A4 concentrations were measured. Hirsutism was recorded. Polycystic ovarian morphology (PCOM) was evaluated by transabdominal pelvic ultrasonography. Polycystic ovary syndrome (PCOS) features were defined according to Rotterdam consensus criteria. RESULTS: AMH and A4 were significantly higher in adolescent girls with OM than in girls with RM (p < 0.05). A4 and body mass index (BMI) of adolescents with OM was significantly higher in those with hirsutism than those without hirsutism (p = 0.01 and 0.008, respectively). There was a positive correlation between A4 and BMI (r: 0.327, p < 0.01). Logistic regression showed that the frequency of OM in the presence of PCOM was 10.8 times (95% CI 2.04-12.09) compared to those without PCOM. The highest AMH concentrations were found in girls with OM, hirsutism, and PCOM (p < 0.05). CONCLUSIONS: AMH and A4 are elevated in adolescents with oligomenorrhoea. High A4 is more prominent in the presence of hirsutism and is associated with increased BMI. PCOM, increases the likelihood of oligomenorrhea by about 10 times. AMH increase as the combination of clinical features of PCOS increases in adolescents with menstrual irregularity.