Katharina Dreser

Background/Objectives: The primary aim of this study was to characterize athletes approaching an outpatient interdisciplinary and multidisciplinary consultation structure for athletes with a suspected relative energy deficiency in sport (REDs) cross-sectionally and longitudinally to prove treatment efficacy. Methods: Data of 58 athletes suspected of REDs were collected at the onset (t₀) and completion (t₁) of interdisciplinary and multidisciplinary REDs treatment (clinical practice) between January 2019 and December 2022. The data included extracted information from medical records, anthropometric characteristics, physical performance diagnostics, laboratory values, dietary records, and partially gynecological and psychosomatic diagnostics. Results: The sample primarily consisted of female athletes (97%) under 18 years of age (66%) who were underweight with a body mass index (BMI) < 18.5 kg/m² and BMI percentile below the 10th percentile for their age and gender-specific norms (59%), and experienced menstrual disorders (93%). The dietary behavior is characterized by plant-based and low-energy-dense foods. Eating disorders (anorexia nervosa and bulimia nervosa) were diagnosed in 40% of the athletes according to the International Statistical Classification of Diseases and Related Health Problems 11th revision criteria. During the program, 64% of the athletes exhibited a mean weight gain of 7 (±6) kg (p < 0.001), excluding those still undergoing treatment (36%). Conclusions: The proposed interdisciplinary and multidisciplinary treatment approach proved effective and holds promise for future evidence-based developments in REDs treatment.

The Mayer–Rokitansky–Küster–Hauser syndrome is characterized by aplasia of the uterus and upper two-thirds of the vagina. While it can appear as an isolated genital malformation, it is often associated with extragenital abnormalities, with little still known about the pathogenetic background. To provide an overview of associated malformations and syndromes as well as to examine possible ties between the rudimentary tissue and patient characteristics, we analyzed a cohort of 469 patients with MRKHS as well as 298 uterine rudiments removed during surgery. A total of 165 of our patients (35.2%) had associated malformations (MRKHS type II). Renal defects were the most common associated malformation followed by skeletal abnormalities. Several patients had atypical associated malformations or combined syndromes. Uterine rudiments were rarer in patients with associated malformations than in patients without them. Rudiment size ranged from 0.3 cm³ to 184.3 cm³ with a mean value of 7.9 cm³. Importantly, MRKHS subtype or concomitant malformations were associated with a different frequency of uterine tissue as well as a different rudiment size and incidence of endometrial tissue, thereby indicating a clear heterogeneity of the phenotype. Further research into the associated molecular pathways and potential differences between MRKHS subtypes is needed.