Isodicentric Y mosaicism involving a 46, XX cell line: Implications for management.

Carriers of isodicentric Y (idicY) mosaicism exhibit a wide range of clinical features, including short stature, gonadal abnormalities, and external genital anomalies. However, the phenotypic spectrum for individuals carrying an idicY and a 46, XX cell line is less clearly defined. A more complete description of the phenotype related to idicY is thus essential to guide management related to pubertal development, fertility, and gonadoblastoma risk in mosaic carriers. Findings from the evaluation of twin females with an abnormal karyotype, 48, XX, +idic(Yq) x2/47, XX, +idic(Yq)/46, XX, are presented to highlight the importance of interdisciplinary care in the management of multifaceted disorders of sex development.

Associations of Prenatal and Perinatal Factors with Cortisol Diurnal Pattern and Reactivity to Stress at Preschool Age Among Children Living in Poverty.

OBJECTIVE: To examine the association of pre- and perinatal factors with diurnal cortisol pattern and reactivity to a stressor at preschool age among children living in poverty. METHODS: Preschool aged children (n=275) provided saliva samples 3 times per day for 3 days to assess circadian rhythmicity (intercept and slope reflected diurnal pattern) and during a behavioral stress elicitation protocol to measure reactivity (5 samples before, during and after the stressor). Pre- and perinatal predictors were pregnancy weight gain, pre-pregnancy body mass index (BMI), infant birth weight z-score and gestational age. We ran 7 linear regression models predicting each of the cortisol outcomes including all pre- and perinatal predictors and covariates simultaneously. RESULTS: Greater pregnancy weight gain predicted higher morning cortisol [b=0.020 (SE 0.007), p=0.003]. Greater pregnancy weight gain also predicted higher cortisol at recovery from the stressor in girls only [ß=0.002 (SE 0.001), p=0.036]. There was no association of pre-pregnancy BMI with any cortisol outcome. Higher birth weight z-score predicted higher morning cortisol in the total sample [ß=0.134 (SE 0.066, p=0.043]. Greater gestational age predicted lower cortisol during peak stress in the sample who underwent cortisol reactivity testing [ß=-0.015 (SE 0.007), p=0.032] and in boys [ß=-0.032 (SE 0.014), p=0.027]. CONCLUSION: Pre- and perinatal factors are associated with cortisol patterning in offspring at preschool age. The implications for child health require additional studies.