No abstract available.
CHARGE Syndrome ; Humans ; Indonesia

Introduction: Vitamin D levels are known to be related to prevalence of allergy and infection in children. However, vitamin D levels in infants’ umbilical cord blood need to be investigated. Therefore, this study aimed to determine association between 25-hydroxyvitamin D [25(OH)D] levels and incidence of allergy and infection in children. Methods: A longitudinal study involving 38 full-term newborns was conducted. Serum 25(OH)D levels in infants’ umbilical cord and venous blood were measured at birth and six months, respectively. 25(OH)D levels were classified as insufficient (<20 ng/mL) and sufficient (>20 ng/mL). Parents filled out questionnaires about their children’s allergy and infection symptoms. Paired t-test was performed to compare the 25(OH)D levels at birth and at six months. Chisquared test was conducted to determine relationship between 25(OH)D levels and incidence of infection and allergy in children. Results: 25(OH)D levels in venous blood of 6-month-old infants were significantly higher than in umbilical cord blood (50.44±13.59 ng/mL vs. 20.70±6.60 ng/mL, p<0.001). In addition, 25(OH)D level insufficiency in umbilical cord blood was associated with infection (p<0.05). However, there was no incidence of allergy, and exclusive breastfeeding and sun exposure were not associated with vitamin D levels in 6-month-old infants. Conclusion: We conclude that 25(OH)D level insufficiency in umbilical cord blood was associated with incidence of infection in the first six months of life.

Objectives: To describe the phenotype variation in Indonesian 46,XX late-identified congenital adrenal hyperplasia(CAH) and the correlation between 17-hydroxyprogesterone (17-OHP) and genital virilization. Methodology: Retrospective study of 39 cases with five salt-wasting (SW) and 34 simple virilizing (SV) types. Results: The median age of the patients was 9.83 years (range, 0.58 to 44 years) with Prader score 2 to 5. Clitoromegaly (100%) and skin hyperpigmentation (87%) were the most common features. Lack of breast development(Tanner 1 to 2) and menstrual disorders occurred in 9 patients (teenagers and adults). Short stature (6), low voice (14),prominentAdam’s apple (9) and hirsutism (4) were found only in SV types Rapid growth (7) and precocious puberty (8)were identified in children. Male gender on admission was found in 13 patients. The mean of 17-OHP level was 304.23nmol/L [standard deviation (SD) 125.03 nmol/L]. There was no correlation between 17-OHP levels and virilization(r=0.19, p>0.05). Conclusion Late-identified CAH showed severe virilization and irreversible sequelae, with clitoromegaly and skinhyperpigmentation as the most commonly seen features. Masculinization of CAH females created uncertainty withregard to sex assignment at birth, resulting in female, male and undecided genders. There is no significant correlationbetween 17-OHP levels with the degree of virilization in CAH females
Phenotype ; Virilism