Müllerian Agenesis in Cat Eye Syndrome and 22q11 Chromosome Abnormalities: A Case Report and Literature Review.

BACKGROUND: Although Müllerian agenesis is the second most common cause of primary amenorrhea the underlying etiology in most cases is unknown. Müllerian agenesis has been reported as a rare finding associated with chromosomal aberrations of the 22q11 chromosomal region including at least 1 individual with cat eye syndrome (CES) and 10 individuals with deletions or duplications of the 22q11.2 region. However, a potential link between 22q11 abnormalities and uterine malformations has been difficult to adequately ascertain because of the limited case reports in the literature. CASE: We report a second case of Müllerian agenesis in a girl with CES. A 16-year-old girl presented with bilateral colobomata, primary amenorrhea, and absence of the uterus and upper vagina on pelvic magnetic resonance imaging. Microarray analysis showed tetrasomy of the pericentromeric region of chromosome 22 diagnostic of CES. SUMMARY AND CONCLUSION: Müllerian aplasia/hypoplasia might represent a rare feature in CES and should be considered in the investigation of young girls with this syndrome. An increasing number of cases with 22q11 chromosome abnormalities and Müllerian agenesis further highlights the possibility of a gene within the 22q11 region that might mediate normal Müllerian development in girls.

Fitness and physical activity in youth with type 1 diabetes mellitus in good or poor glycemic control.

BACKGROUND: Patients with type 1 diabetes mellitus (T1DM) may experience poor muscle health as a result of chronic hyperglycemia. Despite this, muscle function in children with T1DM with good or poor glycemic control has yet to be examined in detail. OBJECTIVE: To assess differences in muscle-related fitness variables in children with T1DM with good glycemic control (T1DM-G), as well as those with poor glycemic control (T1DM-P), and non-diabetic, healthy controls. SUBJECTS: Eight children with T1DM-G [glycosylated hemoglobin (HbA1c) ≤ 7.5% for 9 months], eight children with T1DM-P (HbA1c ≥ 9.0% for 9 months), and eight healthy controls completed one exercise session. METHODS: Anaerobic and aerobic muscle functions were assessed with a maximal isometric grip strength test, a Wingate test, and an incremental continuous cycling test until exhaustion. Blood samples were collected at rest to determine HbA1c at the time of testing. Physical activity was monitored over 7 d using accelerometry. RESULTS: Children with T1DM-P displayed lower peak oxygen consumption (VO2peak ) values (mL/kg/min) compared to healthy controls (T1DM-P: 33.2 ± 5.6, controls: 43.5 ± 6.3, p < 0.01), while T1DM-G (43.5 ± 6.3) had values similar to controls and T1DM-P. There was a negative relationship between VO2peak and HbA1c% (r = -0.54, p < 0.01). All groups were similar in all other fitness variables. There were no group differences in physical activity variables. CONCLUSION: Children with T1DM-G did not display signs of impaired muscle function, while children with T1DM-P have signs of altered aerobic muscle capacity.

Early life factors predict abnormal growth and bone accretion at prepuberty in former premature infants with/without neonatal dexamethasone exposure.

Growth, bone, and body composition were studied at prepuberty in former very low birth weight (VLBW) infants who received dexamethasone (DEX) for bronchopulmonary dysplasia (BPD) compared with VLBW infants without DEX and term-born infants (TERM) to identify early life risk factors for later low bone mass. Children (56 girls/63 boys, 5-10 y) previously studied in neonatal life were recruited into three groups: VLBW + DEX, VLBW - DEX, and TERM children. Anthropometry and whole body bone, fat, and lean mass were measured. At prepuberty, the average height and weight for VLBW + DEX group were significantly lower than that for VLBW - DEX and TERM. Both VLBW groups had lower bone mass even adjusted for height and lean mass than TERM children and lower lean mass both total and adjusted for height. Z-scores for whole body bone mineral content below -1.5 occurred in 27.9% of VLBW + DEX children. The key factors for low bone mass were earlier gestational age and having BPD with DEX in neonatal life. In former VLBW infants, growth and bone mass attainment before puberty can be predicted from early life variables. VLBW + DEX children may be protected from overweight, but are at risk for short stature and low bone mass.