| BackgroundPituitary stalk interruption syndrome(PSIS),characterized by thinning or disappearance of the pituitary stalk,hypoplasia of the anterior pituitary,and an ectopic posterior pituitary,could lead to congenital combined pituitary hormone deficiency.This population has an increased prevalence of various metabolic disorders,including non-alcoholic fatty liver disease(NAFLD).ObjectiveThis study aimed to investigate the characteristics of NAFLD in Chinese adult patients with PSIS and its association with growth hormone deficiency.The effect of rhGH on metabolic parameters was also assessed.DesignRetrospective cross-sectional study in a tertiary referral center of China.PatientsAdult patients with PSIS diagnosed and followed up between September 2019 and August 2021 were consecutively enrolled.MeasurementsAbdominal ultrasonography images were evaluated and non-invasive fibrosis scores were determined to assess the severity of NAFLD.Anthropometric,clinical,and biochemical parameters were compared with and without NAFLD patients.Logistic regression was performed to assess the independent effects of insulin-like growth factor-1(IGF-1)on NAFLD.ResultsA total of 93 patients(77 men,16 women,mean age:29.6 ±7.1 years)were included.The prevalence of NAFLD and advanced fibrosis/cirrhosis was 50.5%and 4.3%,respectively.Insufficient hormone therapy and prominent metabolic disorders,including central obesity,dyslipidemia,insulin resistance,and metabolic syndrome,were more common in the NAFLD(+)group.After adjusting for multiple variables,IGF-1<-2 standard deviation score(SDS)was found to be associated with an increased prevalence of NAFLD(odds ratio[OR]4.92,95%CI 1.21-24.55,P=0.035).Per 1 SDS increase in IGF-1 was associated with a 27%lower risk of NAFLD(OR 0.73,95%CI 0.52-0.97,P=0.042).rhGH therapy showed nonsignificantly metabolic improvement in a minority of patients.ConclusionNAFLD is a frequent comorbidity among Chinese adult patients with PSIS and is strongly associated with lower IGF-1 levels.Timely and appropriate hormone replacement,particularly growth hormone may contribute to decreasing the risk of NAFLD in these patients.ObjectivePulsatile gonadotropin-releasing hormone(GnRH),widely used to induce spermatogenesis in congenital hypogonadotropic hypogonadism(CHH)patients,can restore the pituitary-testis axis function in males with pituitary stalk interruption syndrome(PSIS).This retrospective study aimed to compare the long-term efficacy of pulsatile GnRH therapy between PSIS and CHH.MethodsPatients of PSIS(n=25)or CHH(n=64)who received pulsatile GnRH therapy≥3 months were analyzed in this retrospective study.The rate of successful spermatogenesis,the median time to achieve spermatogenesis,serum gonadotropins,total testosterone(TT),and testicular size were compared.Whole exome sequencing was performed to analyze the gene mutation profiles of the two groups of patients.ResultsBaseline characteristics were comparable except for the lower basal testosterone,triptorelin stimulated peak luteinizing hormone(LH)and follicle-stimulating hormone(FSH)in patients with PSIS.Within similar treatment durations,significantly higher GnRH dose(p<0.001)but lower increase in LH[2.82(1.4,4.55)vs.5.89(3.88,8.02)IU/L,p<0.001],TT[0.38(0,1.34)vs.2.34(1.34,3.66)ng/mL,p<0.001],and testicular volume(5.3 ± 4.5 vs.8.8±4.8 mL,p<0.05)were observed in PSIS.However,spermatogenesis rate(52.0%vs.70.3%,p>0.05),median time of sperm appearance(14 vs.11 months,p>0.05),sperm concentration and progressive motility were comparable.Basal testicular volume(HR 1.13,95%CI 1.01-1.27)and peak LH levels(HR 1.11,95%CI 1.0-1.23)were predictors for early sperm appearance.No direct correlation was observed between certain responsible genes and spermatogenic outcomes.ConclusionPulsatile GnRH therapy can improve gonad function and induce spermatogenesis in male PSIS patients,however,its efficacy may be inferior to that in CHH. |
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