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Objective: To describe in a real-life setting the treatment burden and adherence, and quality of life of children treated with daily injections of growth hormone, and their relationship with treatment duration.

Design: This non-interventional, multicenter, cross-sectional French study involved children aged 3 to 17 years treated with daily growth hormone injections.

Methods: Based on a recent validated dyad questionnaire, the mean overall Life Interference total score (100=most interference) was described, with treatment adherence and quality of life (QOL) using the Quality of Life of Short Stature Youth questionnaire (100=best). All analyses were performed according to treatment duration prior to inclusion.

Results: Among the 275/277 analyzed children, 166 (60.4%) had only growth hormone deficiency (GHD). In the GHD group, mean age was 11.7±3.2 years; median treatment duration was 3.3 years (IQR 1.8-6.4). The mean overall Life Interference total score was 27.7±20.7 (95% CI [24.2;31.2]), with non-significant correlation with treatment duration (p=0.1925). Treatment adherence was good (95.0% of children reported receiving >80% of planned injections over the last month); it slightly decreased with treatment duration (p=0.0364). Children overall QOL was good: 81.5±16.6 and 77.6±18.7 according to children and parents, respectively, but sub scores of the coping and treatment impact domains were <50. Similar results were observed in all patients independently of the condition requiring treatment.

Conclusions: This real-life French cohort confirms the treatment burden of daily growth hormone injections, as previously reported in an interventional study.

Neonatal screening for congenital adrenal hyperplasia (CAH) faces many specific challenges. It must be done using a performant analytical approach that combines sensitivity and specificity to capture the potential causes of mortality during the first week of life, such as salt wasting and glucocorticoid deficiency. Here, we confirm that maternal inhaled corticosteroid intake during pregnancy is a possible cause of missed CAH diagnosis. Thanks to liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS) analysis, we were able to quantify endogenous steroid metabolites and also detect the presence of exogenous steroids in the dried blood spot of a newborn. Adding LC-MS/MS analysis as second-tier test, especially one that includes both 17-hydroxyprogesterone and 21-deoxycortisol measurements, would probably improve CAH diagnosis. In familial neonatal screening one could also look for maternal corticosteroid therapies that are hidden to prevent false-negative tests.

Classic galactosemia is a rare inborn error of galactose metabolism with a birth prevalence of about 1/30,000–60,000. Long-term complications occurring despite dietary treatment consist of premature ovarian insufficiency (POI) and neurodevelopmental impairments. We performed with the French Reference Centers for Rare Diseases a multisite collaborative questionnaire survey for classic galactosemic patients. Its primary objective was to assess their puberty, pregnancy, gonadotropic axis, and pelvic morphology by ultrasound. The secondary objective was to determine predictive factors for pregnancy without oocyte donation. Completed questionnaires from 103 patients, 56 females (median age, 19 years (3–52 years)) and 47 males (median age, 19 years (3–45 years)), were analyzed. Among the 43 females older than 13 years old, mean age for breast development first stage was 13.8 years; spontaneous menarche occurred in 21/31 females at a mean age of 14.6 years. In these 21 women, 62% had spaniomenorrhea and 7/17 older than 30 years had amenorrhea. All age-groups confounded, FSH was above reference range for 65.7% of the patients, anti-Müllerian hormone and inhibin B were undetectable, and the ovaries were small with few or no follicles detected. Among the 5 females who sought to conceive, 4 had pregnancies. Among the 47 males, 1 had cryptorchidism, all have normal testicular function and none had a desire to conceive children. Thus, spontaneous puberty and POI are both common in this population. Spontaneous menarche seems to be the best predictive factor for successful spontaneous pregnancy.