Slipped Capital Femoral Epiphysis Associated With Hypogonadism: A Case Report And Literature Review

Background: Slipped capital femoral epiphysis (SCFE) is a displacement of the femoral head epiphysis that is sometimes associated with endocrinopathies. We report the case of a 12-year-old girl with hypergonadotropic hypogonadism (HH) who developed SCFE during growth hormone therapy (GHT). We also performed a systematic review of the cases of SCFE and hypogonadism in the literature. Case presentation: The patient was diagnosed with HH based on the absence of ovaries and a uterus. Her medical history included GHT for 9 years as she was small for gestational age. Chromosomal and genetic analyses revealed no pathogenic abnormalities. Radiographs revealed a left SCFE with a 28.7° posterior tilt angle. GHT was discontinued, and bilateral in situ screw fixation was performed. Sex hormone therapy (SHT) was initiated. Two years later, the patient recovered.Methods: We reviewed the cases of hypogonadism complicated with SCFE. The guidelines of the Preferred Reporting Items for Systematic Reviews and Meta-Analyses 2020 statement were followed. Case reports of patients were retrieved using PubMed on November 17, 2021.Results: A total of 44 cases of SCFE and hypogonadism were identified, including this case. Endocrinological complications included growth hormone deficiency (n = 18), being overweight (n = 9), and hypothyroidism (n = 25). Hormone replacement was administered before (SHT, n = 6; GHT, n = 12) and after surgery (SHT, n = 21; GHT, n = 11). SCFE surgery was invasive (minimal, n = 19; moderate, n = 10; high, n = 8). Orthopedic complications were observed in four cases. Conclusions: If hypogonadism occurs during GHT, SCFE should be noted. Hypogonadism should be studied to determine the effects of hormonal replacement on SCFE.

Use of the PROMIS Mobility score in assessing function in adolescents and adults previously affected by childhood hip disease

Aims The Patient-Reported Outcomes Measurement Information System (PROMIS) has demonstrated faster administration, lower burden of data capture and reduced floor and ceiling effects compared to traditional Patient Reported Outcomes Measurements (PROMs). We investigated the suitability of PROMIS Mobility score in assessing physical function in the sequelae of childhood hip disease. Methods In all, 266 adolscents (aged ≥ 12 years) and adults were identified with a prior diagnosis of childhood hip disease (either Perthes’ disease (n = 232 (87.2%)) or Slipped Capital Femoral Epiphysis (n = 34 (12.8%)) with a mean age of 27.73 years (SD 12.24). Participants completed the PROMIS Mobility Computer Adaptive Test, the Non-Arthritic Hip Score (NAHS), EuroQol five-dimension five-level questionnaire, and the Numeric Pain Rating Scale. We investigated the correlation between the PROMIS Mobility and other tools to assess use in this population and any clustering of outcome scores. Results There was a strong correlation between the PROMIS Mobility and other established PROMs; NAHS ( rs = 0.79; p < 0.001). There was notable clustering in PROMIS at the upper end of the distribution score (42.5%), with less seen in the NAHS (20.3%). However, the clustering was broadly similar between PROMIS Mobility and the comparable domains of the NAHS; function (53.6%), and activity (35.0%). Conclusion PROMIS Mobility strongly correlated with other tools demonstrating convergent construct validity. There was clustering of physical function scores at the upper end of the distributions, which may reflect truncation of the data caused by participants having excellent outcomes. There were elements of disease not captured within PROMIS Mobility alone, and difficulties in differentiating those with the highest levels of function. Cite this article: Bone Jt Open 2021;2(12):1089–1095.

Clinical Genealogical and Epigenetic Examination of Patients with Juvenile Epiphysiolysis of the Femoral Head

Summary. Slipped capital femoral epiphysis (SCFE) is a multifactorial disease caused by a number of factors, and each of them can be triggered in its occurrence. Modern research is increasingly pointing to the leading role of epigenetic structures in the origin and course of this group of diseases. In recent years, the most promising area is the study of the role of microRNAs as an epigenetic factor that plays a leading role in the pathogenesis of multifactorial diseases. Objective: to develop a methodology for genetic genealogical examination of patients with juvenile epiphysiolysis of the femoral head. Materials and Methods. The study material was 26 patients with SCFE (15 girls and 11 boys) in different periods of sexual development: prepuberty – 7 patients, induction of puberty – 12 patients, and puberty and postpuberty – 7 patients. A questionnaire developed by us was used for clinical and genealogical research of the patients. The material for the epigenetic study, namely the study of microRNA-21 expression in patients with SCFE, was venous blood. Results. The expression of microRNA-21 in the blood of patients with SCFE is different (average expression is 0.86 conventional units) from those of healthy donors (average 0.393 conventional units) of the same age (p<0.05). Analysis of dependence on the period of sexual development revealed statistical differences in indicators depending on the group (p<0.05). No dependence of the level of microRNA-21 expression in patients with SCFE on sex and the period before or after surgery (p>0.05) was revealed. The obtained data on the probability of the influence of hereditary factors on the occurrence of SCFE are statistically significant (p<0.05). Conclusions. Our results of epigenetic and clinical genealogical research of patients with SCFE showed a high probability of influence of hereditary and epigenetic factors on the occurrence and course of this disease.