OBJECTIVE: To explore the clinical features and genetic basis of a male patient with Kennedy disease(KD) presenting as secondary infertility. METHODS: A male patient who had presented at Yantai Yuhuangding Hospital in August 2023 for secondary infertility for 5 years was selected as the study subject. Clinical data, laboratory findings, and auxiliary examination of the patient were collected. Peripheral blood samples were obtained from the patient and his family members. Following DNA extraction, whole-exome sequencing (WES) was carried out. Pathogenicity of candidate variant was predicted by bioinformatics analysis. Fluorescence probe PCR-capillary electrophoresis was employed to analyze the trinucleotide CAG repeat sequence variation in the AR gene to rule out dynamic mutation. This study was approved by the Ethics Committee of Yantai Yuhuangding Hospital (Ethics No.: 2024-697). RESULTS: The patient had presented with non-obstructive azoospermia and elevated androgen sensitivity index. Ultrasound scan indicated small testicular volume and seminal vesicle atrophy. WES and bioinformatics analysis revealed abnormal amplification in the patient's AR gene. Fluorescence probe PCR and capillary electrophoresis confirmed that both the proband and his nephew had harbored 52 CAG trinucleotide repeats in exon 1 of the AR gene, confirming the diagnosis of KD. The proband's mother, elder sister, and daughter were identified as carriers of the variant, while his second elder sister did not carry the mutation. CONCLUSION As a rare X-linked recessive genetic disease, KD mainly manifests with muscle weakness, myasthenia gravis and myofascial tremor, while cases with infertility and non-obstructive azoospermia as the initial symptoms are rare and can be easily missed. Diagnosis made by genetic testing needs to be taken seriously by the clinicians.
Humans ; Male ; Bulbo-Spinal Atrophy, X-Linked/diagnosis* ; Adult ; Infertility, Male/genetics* ; Receptors, Androgen/genetics* ; Exome Sequencing ; Mutation ; Pedigree ; Trinucleotide Repeats

Adult ; Aged ; Altitude Sickness ; metabolism ; Bone Marrow ; metabolism ; Chronic Disease ; Humans ; Male ; Middle Aged ; Peptide Fragments ; metabolism

Objective To explore the relationships of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3) with growth of very low birth weight (VLBW) infants in the early postnatal stage. Methods According to the individual gestational age and birth weight, 32 cases of VLBW infants were divided into small for gestational age (SGA) group and appropriate for gestational age (AGA) group. After birth, all the infants were given the same nutritional intake. The body weight, body length, head circumference and body mass index (BMI) were monitored at different time points (d0, d7, d14 and d28 after birth). Serum IGF-1 and IGFBP-3 levels were measured by radiommunoassay, and IGF-1/IGFBP-3 molar ratio was calculated. Results There was no signiifcant difference of body weight, body length, head circumference and BMI between two groups at d0, d7, d14 after birth. Body weight and BMI in SGA group were less than those in AGA group at d28 after birth (P<0.05). The levels of IGF-1, IGFBP-3 and IGF-1/IGFBP-3 in SGA group and IGF-1/IGFBP-3 in AGA group did not change with age after birth. The levels of IGF-1 and IGFBP-3 were increased in AGA group after birth. The level of IGF-1 in AGA group at d14 and d28 after birth was higher than that in AGA group at d0 after birth (P<0.05). The level of IGFBP-3 in AGA group at d28 after birth was higher than that in AGA group at d0 after birth (P<0.05). The levels of IGF-1 and IGFBP-3 in SGA group at d28 after birth were lower than those in AGA group at d28 after birth (P<0.05). Conclusions Serum IGF-1 and IGFBP-3 levels in SGA group are lower than those in AGA group. Low levels of IGF-1 and IGFBP-3 may result in growth retardation.

Purpose:The study was designed to investigate the feasibility of contrast-enhanced ultrasound in the differentiation of benign and malignant adnexal masses.Materials and Methods:Sixty-nine consecutive patients with adnexal masses received trans vaginal contrast-enhanced ultrasound.The image and perfusion features were assessed.Results:All of 26 malignant tumors showed detectable contrast enhancement,including 24 cases with a quick,heterogeneous or branching pattern.Among 39 benign lesions,24 were cystic with circle or half-circle enhancement,including 5 cases with intra-cystic septum or papillae slightly enhanced.The other 15 cases were solid,8 of them had slightly dotted enhancement.There are significant difference in enhancement patterns between benign and malignant masses ( P < 0.0001).The 4 cases of borderline tumors showed progressive,heterogeneous enhancement.Conclusion:Contrast-enhanced ultrasound is of value in the differentiation of benign and malignant adnexal masses.