Prevalence and Specific Manifestations of Non-alcoholic Fatty Liver Disease (NAFLD) and Diabetes Mellitus Type 2 Association in a Moroccan Population: A Cross-sectional Study.

OBJECTIVE: Non-alcoholic fatty liver disease (NAFLD) is recognized as a common cause of chronic liver disease worldwide. Its association with type 2 diabetes mellitus (T2DM) is known to increase the risk of degenerative complications of diabetes and the likelihood of developing severe hepatic injuries. The objective of this study was to assess the prevalence of NAFLD and to describe the characteristics of its association with T2DM. METHODS: This was a descriptive analytical study, involving patients with T2DM with no history of alcohol consumption, viral hepatitis, hepatotoxic medications, or other chronic liver diseases. The patients underwent an investigation of NAFLD including abdominal ultrasound, non-invasive biomarkers of liver fibrosis, elastography and ultrasound-guided liver biopsy. RESULTS: We collected data from 180 patients with a mean age of 59.3 ± 10.9 years with strong female predominance. The mean duration of diabetes progression was 9.2 ± 7.3 years. Hepatic sonography showed signs of NAFLD in 45.6% of cases. Non-invasive hepatic biomarkers indicated significant fibrosis in 18.3% of cases. Overall, 21% of patients underwent an elastography evaluation, revealing severe fibrosis or cirrhosis in 15.4% of patients. The diagnosis of NASH (Non-alcoholic steatohepatitis) was confirmed histologically in 3 patients. The overall prevalence of NAFLD was 45.6%. Patients with NAFLD had a statistically significant incidence of obesity, metabolic syndrome, hypertension, dyslipidemia, macrovascular complications, and hypertriglyceridemia (p < 0.05). CONCLUSIONS: The combination of NAFLD and T2DM is often found in patients with obesity or metabolic syndrome. The presence of NAFLD can be responsible for increased morbidity and important cardiovascular risks in patients with T2DM.

Novel homozygous inactivating mutation in the luteinizing hormone receptor gene (LHCGR) associated with 46, XY DSD in a Moroccan family.

OBJECTIVES: We present the first cases of two male brothers with Leydig cell hypoplasia secondary to a novel mutation in the LHCGR gene that has never been described before. CASE PRESENTATION: We report the case of two brothers with Leydig cell hypoplasia (LCH) type II caused by novel homozygous inactivating mutation of the LHCGR gene, located in exon 10 in c 947 position. The two patients presented at 11 years 7 months and 1 year 6 months, respectively, with abnormal sexual development, micropenis and cryptorchidism. Genetic analysis revealed a homozygous deletion of approximately 4 bp encompassing exon 10 of the LHR gene in the two brothers indicating autosomal recessive inheritance. An hCG stimulation test induced testosterone secretion within the normal range. Subsequently, a treatment with enanthate of testosterone was started, with an increase in the length of the penis. CONCLUSIONS: Leydig cell hypoplasia is a rare form of disorder of sex development. We report the occurrence of a new mutation of the LHCGR gene in two Moroccan brothers in whom the clinical features and the molecular diagnosis were correlated.