Impact of transitional care on endocrine and anthropometric parameters in Prader-Willi syndrome.

CONTEXT: The transition of patients with Prader-Willi syndrome (PWS) to adult life for medical care is challenging because of multiple comorbidities, including hormone deficiencies, obesity and cognitive and behavioral disabilities. OBJECTIVE: To assess endocrine management, and metabolic and anthropometric parameters of PWS adults who received (n = 31) or not (n = 64) transitional care, defined as specialized pediatric care followed by a structured care pathway to a multidisciplinary adult team. PATIENTS AND STUDY DESIGN: Hormonal and metabolic parameters were retrospectively recorded in 95 adults with PWS (mean ± s.d. age 24.7 ± 8.2 years, BMI: 39.8 ± 12.1 kg/m²) referred to our Reference Center and compared according to transition. RESULTS: Among the entire cohort, 35.8% received growth hormone (GH) during childhood and 16.8% had a GH stimulation test after completion of growth. In adulthood, 14.7% were treated with GH, 56.8% received sex-hormone therapy, whereas 91.1% were hypogonadic and 37.9% had undergone valid screening of the corticotropic axis. The main reason for suboptimal endocrine management was marked behavioral disorders. Patients receiving transitional care were more likely to have had a GH stimulation test and hormonal substitutions in childhood. They also had a lower BMI, percentage of fat mass, improved metabolic parameters and fewer antidepressant treatments. Transitional care remained significantly associated with these parameters in multivariate analysis when adjusted on GH treatment. CONCLUSION: A coordinated care pathway with specialized pediatric care and transition to a multidisciplinary adult team accustomed to managing complex disability including psychiatric troubles are associated with a better health status in adults with PWS.

[Misleading diagnosis of hyperprolactinemia in women]. / Pièges diagnostiques des hyperprolactinémies chez la femme.

Prolactin is a major hormone, involved in gonadotroph axis regulation. Hyperprolactinemia induces gonadotropin deficiency and therefore hypogonadotropic hypogonadism. It should be suspected in front of menstrual cycle abnormalities, infertility and/or galactorrhea. If drugs and/or PRL adenoma represent the vast majority of causes of hyperprolactinemia, other etiologies and misleading diagnosis of hyperprolactinemia should be searched for. After eliminating a pregnancy, in women of childbearing age, the first step is to interpret the result of hyperprolactinemia, according to the assay technique used. Indeed, the major active form of prolactin is the 23kDA non-glycosylated prolactin. However, some assays interfere with macroprolactinemia, an inactive form of prolactin, including glycosylated prolactin bound to an IgG immunoglobulin. Its presence in the serum is misleading as it may induce increased levels of prolactin, usually below 100 ng/mL. The diagnosis of macroprolactinemia has major issues as pituitary MRI does not need to be performed. Furthermore, neither treatment nor follow-up of patients with macroprolactinemia are necessary. It should be suspected in the presence of normal menstrual cycles. Drugs inducing hyperprolactinemia usually raise prolactin levels below 100 ng/mL. If prolactin level is higher than 250 ng/mL, the main diagnosis is pituitary macro-adenoma. If prolactin ranges between 100 and 250 ng/mL, it is usually related to a micro-adenoma or a necrotic macro-adenoma. A mixed PRL/GH should always be suspected. If prolactin level is below 150 ng/mL, in the presence of a large hypothalamic-pituitary tumor, the major diagnosis is hyperprolactinemia due to pituitary disconnection. Ectopic secretions of prolactin remain very rare. A new etiology of hyperprolactinemia is loss of function mutation of prolactin receptor.

[Bariatric surgery in obese adolescents: When and how should the transition from pediatric to adult medical management be made?]. / Prise en charge médico-chirurgicale de l'obésité de l'adolescent : quand et comment réaliser la transition vers la prise en charge adulte ?

INTRODUCTION: In young obese patients, the transition from adolescence to adulthood, i.e., the transition from the pediatric to the adult medical team, is a new issue. In particular, it is important to define when and how this transition should be made in the setting of bariatric surgery. MATERIALS AND METHODS: Fourteen young obese patients (under the age of 20), who underwent bariatric surgery, were included in the study (nine cases of Roux-en-Y gastric by-pass, three sleeve gastrectomy, one gastric banding). After surgery, the patients were followed in both the pediatric and adult departments (protocol 1) or only in the pediatric department during the 1st year and then in the adult department afterwards (protocol 2). Anthropometric and metabolic data, before and after surgery, and compliance monitoring were analyzed using a retrospective design. Twelve patients completed a questionnaire assessing how they experienced the transition. RESULTS: Before surgery, mean age±SD was 16.3±1.8 years old and mean body mass index (BMI) 55.0±8.6kg/m(2). At 1 year after surgery, mean weight loss was -32.1±8.2% of initial body weight. Adherence to vitamin supplementation was judged to be adequate (vitamins were not taken less than once a week) for only 57.5% patients. Mean follow-up was 34.8±25.1 months [95% CI, 9.5-78.4]. None of the patients was lost to follow-up. Compliance was significantly better for patients following protocol 2. Adolescents reported being satisfied with meetings and newsletters about surgery, specific to this age group (91.7%). They also reported that information on the adult department was sufficient and 91.7% of them expressed satisfaction on the first outpatient visit in the adult department. However, all patients spontaneously reported having difficulties identifying members of the different teams: nutritionist pediatrician, nutritionist, and adult surgeon. DISCUSSION: These preliminary data suggest that, in obese adolescents, it is important to differentiate the transition period and the time and preparation for bariatric surgery. A prospective follow-up with a larger number of subjects and recommendations are needed to better define and improve the specific clinical management of obese adolescents transitioning to adulthood.