In the largest cohort to date, we demonstrate a wide spectrum of phenotypes and biological profiles in patients with 5α-reductase deficiency, whatever their geographical or ethnic origins.

Study design: Review article on bone metabolism and therapeutic approach on bone loss in patients with spinal cord injury (SCI). Objective: The first part aims to describe the process of bone demineralization and its effects on bone mass in patients with SCI. The second part describes and discusses the therapeutic approaches to limiting the alteration in bone metabolism related to neurological lesions. Setting: Propara Rehabilitation Center, Montpellier, France. Results: During the first 24 months postinjury, demineralization occurs exclusively in the sublesional areas and predominantly in weight-bearing skeletal sites such as the distal femur and proximal tibia, both of which are trabecular-rich sites. Reduced bone mass, in association with a modified bone matrix property and composition, is very likely at the origin of pathological fractures after minor trauma to which these patients are frequently exposed. Since these fractures may be asymptomatic yet may lead to complications, preventing and managing 'neurological osteoporosis' remains a considerable challenge. Two main approaches are considered: the first consists in applying a mechanical stimulus to the bone tissue by standing, orthotically aided walking or functional electrical stimulation (FES). The second uses medications, particularly antiresorptive drugs such as calcitonin or diphosphonates. Conclusion: To develop well-adapted treatments, a more precise understanding of bone loss etiology is needed. The current rehabilitation programs are based on the idea that the bone physiological changes observed in patients with SCI are due to immobility, but results indicate that alterations inherent to neurological damage may play an even greater role in inducing osteoporosis.

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Physical exercise has frequently been shown to improve bone mass, especially at load-bearing bone sites. It is widely acknowledged that the anabolic effects of exercise on bone tissue are related to the application of mechanical constraints, but part of the osteogenic response may be due to other factors. In particular, various hormonal parameters that are modified by training, such as insulin-like growth factor-1 and sexual hormones, may modulate the bone response. In contrast, little is known about the involvement of calciotropic hormones in the adaptation mechanism of bone tissue. These hormones, which include parathyroid hormone, vitamin D metabolites, and calcitonin, are highly implicated in the regulation of both bone remodeling and calcium homeostasis. In addition to their direct action on bone cell activity, these hormones act on various target tissues such as kidney and intestine. This article describes the acute and long-term effects of exercise on both calcium homeostasis and calciotropic hormones in various populations. It clearly shows that exercise modifies calcium homeostasis and calciotropic hormone levels and that the variations in response are modulated by parameters related to exercise, including duration and intensity, as well as by individual characteristics such as age, sex, and training status.

Patients with eating disorders (EDs) frequently report a history of childhood trauma (CT). We investigated whether certain subtypes of CT are associated with more severe features of EDs, independently of psychiatric comorbidity, and whether they act additively. One hundred and ninety-two patients with DSM-V-defined EDs were consecutively recruited. Five clinical characteristics were assessed: restraint, eating, shape and weight concerns on the EDE-Q, and daily functioning. CT was assessed by the childhood traumatism questionnaire. The clinical features were associated with at least one CT subtype (emotional, sexual or physical abuse, emotional neglect). Multivariate analyses adjusted for lifetime comorbid psychiatric disorders revealed that emotional abuse independently predicted higher eating, shape and weight concerns and lower daily functioning, whereas sexual and physical abuse independently predicted higher eating concern. A dose-effect relationship characterised the number of CT subtypes and the severity of the clinical features, suggesting a consistent and partly independent association between CT and more severe clinical and functional characteristics in EDs. Emotional abuse seems to have the most specific impact on ED symptoms. Last, not all CT subtypes have the same impact but they do act additively.