Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex development.

OBJECTIVE: Being born small for gestational age (SGA) is frequently associated with unexplained disorders of sex development (nonspecific DSD) in boys. Little is known about their future growth, puberty and testicular function. Our objective is to determine the long-term endocrine outcome of boys born SGA who have a nonspecific DSD. DESIGN: Boys with a nonspecific DSD born SGA and appropriate for GA (AGA) were retrieved through the International Disorders of Sex Development registry and retrospective data collected, based on a spreadsheet containing 102 items. PATIENTS AND MEASUREMENTS: In total, 179 boys were included, of which 115 were born SGA and 64 were born AGA. Their growth and pubertal development were compared. Serum LH, FSH, testosterone, AMH and inhibin B levels in infancy and puberty were analysed to assess testicular function. RESULTS: At 2 years of age, 30% of SGA boys had incomplete or absent catch-up growth. Boys born SGA also had higher LH during minipuberty and lower testosterone in stimulation tests (p = 0.037 and 0.040, respectively), as compared to boys born AGA. No differences were observed in timing or course of puberty or end-pubertal hormone levels. CONCLUSIONS: Almost one out of three SGA boys with a nonspecific DSD experiences insufficient catch-up growth. In addition, our data suggest dysfunction of infantile Leydig cells or altered regulation of the hypothalamic-pituitary-gonadal axis in SGA boys during childhood. Sex steroid production during puberty seems unaffected.

Families with pediatric type 1 diabetes: A comparison with the general population on child well-being, parental distress, and parenting behavior.

AIMS: The aim of this study was to compare families with a child (2-12 years) with type 1 diabetes (T1D) to families which are not confronted with chronic illness, with regard to children's well-being, parental distress, and parenting behavior. In addition, differences were explored between families whose child has optimal vs suboptimal glycemic control. METHODS: Mothers, fathers, and children of 105 families with pediatric T1D completed questionnaires assessing child well-being, parental distress, and parenting. The control group consisted of 414 families without chronic illness. RESULTS: With regard to child well-being, children with T1D had more adjustment difficulties (as reported by mothers) and lower quality of life (QoL) (as reported by mothers and fathers), whereas children themselves (8-12 years) reported higher QoL compared to controls. In terms of parental distress, mothers, but not fathers, of children with T1D reported more stress, anxiety symptoms, and depressive symptoms than controls. With regard to parenting behavior, parent reports revealed less protectiveness in fathers and less autonomy support and responsiveness in both parents as compared to controls. No differences were found in parent-reported psychological control between parents of children with and without T1D, but children with T1D perceived lowered parental psychological control. Lastly, secondary analyses indicated that especially families with suboptimal child glycemic control showed more maternal distress and worse child well-being (according to parents). CONCLUSIONS: Families confronted with pediatric T1D differ from families without chronic illness: childhood T1D impacts parental perceptions of child well-being and differentially affects mothers' and fathers' distress levels and behaviors.

Parental stress, anxiety and trait mindfulness: associations with parent-child mealtime interactions in children with type 1 diabetes.

Introduction This study examined how maternal and paternal stress, anxiety, and trait mindfulness, and child glycemic control are related to real-life parent-child interactions in families confronted with type 1 diabetes (T1D). Methods Parents reported on trait mindfulness, illness-related parenting stress, general stress, and state anxiety. Parent-child mealtime interactions were videotaped and scored in 33 families (31 mothers and 20 fathers) of children with T1D (5-12y., mean HbA1c = 7.22%). Results Parental stress and anxiety were related to more maladaptive and less adaptive parent-child interactions. For mothers, mindfulness was related to less observed discomfort of the child during injection. For fathers, more emotional involvement was related to better child glycemic control. Discussion Results indicate that parental stress and anxiety may be risk factors for maladaptive parent-child interactions.

Mindfulness, Worries, and Parenting in Parents of Children With Type 1 Diabetes.

OBJECTIVE: Parents of children with type 1 diabetes (T1D) often experience distress and worries, which may negatively impact their parenting behaviors. The current study investigates parental mindfulness (i.e., an enhanced attention to and awareness of current experiences or present reality) as a resilience mechanism. Using a daily diary approach, the predictive role of parental mindfulness for daily diabetes-related worries was examined, its impact upon protective parenting behaviors, and its buffering role in the relationship between daily worries and protective parenting behaviors. METHODS: Participants were 56 parents of 40 children with T1D (2-12 years). Trait mindfulness was assessed with the Mindful Attention Awareness Scale. Subsequently, parents completed a diary for 14 consecutive days, assessing parental worries about hypo- and hyperglycemia and general and diabetes-specific parental protective behavior. RESULTS: Multilevel analyses showed that parental diabetes-related worries fluctuated substantially across days and positively predicted daily protective behavior. Higher levels of parental mindfulness predicted less daily worries about hypoglycemia and lower engagement in general protective behavior and hypoglycemia avoidance behavior. In addition, the relationship between worries about hyperglycemia and general protective behavior was moderated by parental mindfulness. CONCLUSIONS: The present findings highlight the importance of daily parental worries in explaining parental protective behaviors on a daily basis. Mindfulness emerged as a promising resilience factor in parents of children with T1D, resulting in less daily worries and protective parenting. These results have important clinical implications and point to the promising role of mindfulness interventions in this context.

Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability.

We present a 4-year-old girl with delayed neuromotor development, short stature of prenatal onset, and specific behavioral and craniofacial features harboring an intragenic deletion in the ARID2 gene. The phenotype confirmed the major features of the recently described ARID2-related intellectual disability syndrome. However, our patient showed overlapping features with Nicolaides-Baraitser syndrome and Coffin-Siris syndrome, providing further arguments to reclassify these disorders as "SWI/SNF-related intellectual disability syndromes."

The External Genitalia Score (EGS): A European Multicenter Validation Study.

CONTEXT: Standardized description of external genitalia is needed in the assessment of children with atypical genitalia. OBJECTIVES: To validate the External Genitalia Score (EGS), to present reference values for preterm and term babies up to 24 months and correlate obtained scores with anogenital distances (AGDs). DESIGN, SETTING: A European multicenter (n = 8) validation study was conducted from July 2016 to July 2018. PATIENTS AND METHODS: EGS is based on the external masculinization score but uses a gradual scale from female to male (range, 0-12) and terminology appropriate for both sexes. The reliability of EGS and AGDs was determined by the interclass correlation coefficient (ICC). Cross-sectional data were obtained in 686 term babies (0-24 months) and 181 preterm babies, and 111 babies with atypical genitalia. RESULTS: The ICC of EGS in typical and atypical genitalia is excellent and good, respectively. Median EGS (10th to 90th centile) in males < 28 weeks gestation is 10 (8.6-11.5); in males 28-32 weeks 11.5 (9.2-12); in males 33-36 weeks 11.5 (10.5-12) and in full-term males 12 (10.5-12). In all female babies, EGS is 0 (0-0). The mean (SD) lower/upper AGD ratio (AGDl/u) is 0.45 (0.1), with significant difference between AGDl/u in males 0.49 (0.1) and females 0.39 (0.1) and intermediate values in differences of sex development (DSDs) 0.43 (0.1). The AGDl/u correlates with EGS in males with typical genitalia and in atypical genitalia. CONCLUSIONS: EGS is a reliable and valid tool to describe external genitalia in premature and term babies up to 24 months. EGS correlates with AGDl/u in males. It facilitates standardized assessment, clinical decision-making and multicenter research.

Increased aortic stiffness in prepubertal girls with Turner syndrome.

BACKGROUND: Aortic dilation and dissection contribute highly to the increased mortality of Turner syndrome (TS) but the exact pathophysiology is not completely understood. DESIGN: Prospective case - control study. METHODS: 15 prepubertal TS girls (median age 10.64, IQ 8.31-11.04) with a tricuspid (TAV, n=9) or a bicuspid (BAV, n=6) aortic valve, and 31 sex-, age-, and height-matched healthy controls underwent a cardiac and vascular ultrasound to evaluate aortic dimensions and elastic properties of the aortic wall. RESULTS: TS BAV had significantly larger ascending aortic diameters than controls for absolute diameter, 22.2±5.1mm vs. 18.6±1.9mm (p=0.014) and z-score 1.7±2.1 vs. 0.1±0.7 (p=0.008). Distensibility of the ascending aorta was lower in the TS than in controls (40.2×10-3kPa-1, IQ 31.3-56.2 vs. 62.9×10-3kPa-1, IQ 55.5-76.5, p=0.003), both for TS TAV (p=0.014) and BAV (p=0.005). Stiffness index was higher in TS than in controls (5.26, IQ 3.34-5.26 vs. 3.23, IQ 2.55-3.24, p=0.005), both for TS TAV (p=0.028) and TS BAV (p=0.006). Pulse wave velocity was not different between groups. There was no correlation between stiffness and z-score of the ascending aortic diameter. CONCLUSIONS: In prepubertal TS girls, stiffness of the ascending aorta is increased in patients with a BAV and TAV while dilation of the ascending aorta is more frequent in BAV. This suggests an intrinsic aortic wall abnormality making all TS patients at increased risk for severe aortic complications although the risk is the highest for TS with BAV.