Combined diagnostic value of insulin-like growth factor-1, insulin-like growth factor binding protein-3, and baseline luteinizing hormone levels for central precocious puberty in girls.

OBJECTIVES: The golden standard test for diagnosing central precocious puberty (CPP) is the gonadotropin releasing hormone stimulation test, which has many limitations. This study aimed to investigate the value of insulin-like growth factor-1 (IGF-1), IGF binding protein-3 (IGFBP-3), and basal luteinizing hormone (LH) levels in diagnosing CPP. METHODS: Cross-sectional study of the levels of IGF-1, IGFBP-3, and basal LH in girls with a chief complaint of premature breast development. Seventy-nine girls with CPP and 37 girls with premature thelarche (PT) diagnosed at West China Second University Hospital from January 2016 to October 2018 were recruited. All patients underwent physical examination, laboratory tests, uterine and ovarian ultrasound, and bone age tests, only CPP patients underwent pituitary magnetic resonance imaging (MRI). Statistical analysis was performed using the SPSS software 21.0. A receiver operating characteristic curve was used to determine diagnostic value. RESULTS: The anthropometric data and hormone indicators between CPP and PT were statistically different (p<0.001), except for peak follicle stimulating hormone (FSH) levels (p=0.181). IGF-1, IGFBP-3, and basal LH levels were significantly higher in the subjects with CPP than in those with PT; IGF-1 and basal LH were positively correlated with peak LH and LH/FSH (peak) (p<0.001). The area under the curve (AUC) of IGF-1, IGFBP-3, and basal LH were 0.880, 0.853, and 0.915, respectively. When combined, the AUC reached the highest value of 0.978. CONCLUSIONS: IGF-1, IGFBP-3, and baseline LH levels were useful in diagnosing CPP. The combined analysis improved the diagnostic effectiveness.

[Ultrasound Measurement of Uterus and Ovary from Childhood to Adolescence and Ultrasound in Diagnosis of Precocious Puberty].

OBJECTIVE: To analyze the diagnostic value of ultrasound combined with Z-score in various types of precocious puberty of girls. METHODS: Ultrasound was used to measure the uterus and ovary of normal girls aged between 3 and 21, and Z-score model was established. Ultrasound was used to measure the uterus and ovary of girls with central precocious puberty (CPP), peripheral precocious puberty (PPP), premature pubarche (PP), and premature thelarche (PT). The highest age-related variable was selected to calculate the Z value of the above measurements. The best diagnostic cut-off point was obtained by ROC curve. RESULTS: Ovarian volume and uterine body length had the best correlation with age. The ovarian volume and uterine body length of the girls with CPP were longer and larger than those in normal girls. The area under curve (AUC) of ovarian volume was 0.94 and the best diagnostic cut-off value was Z=2.16 (sensitivity 100%, specificity 81.1%). The AUC of uterine body length was 0.845 and the best diagnostic cut-off value was Z=1.14 (sensitivity 91.6%, specificity 84.9%). In the girls with PPP, only the length of uterine body was longer than that of normal girls. The AUC was 0.910 and the best diagnostic cut-off value was Z=1.06 (sensitivity 98.0%, specificity 82.0%). There was no significant difference between the girls with PP, PT and normal girls. CONCLUSIONS: Ultrasound combined with Z value has certain significance in differentiating CPP from PPP. It is speculated that this method can be used in the treatment and monitoring of precocious puberty.

Cole-Carpenter syndrome-1 with a de novo heterozygous deletion in the P4HB gene in a Chinese girl: A case report.

RATIONALE: Cole-Carpenter syndrome-1 (CLCRP1) is an independent osteogenesis imperfect (OI)-like disorder that manifests as bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features. Only 2 types of mutation sites in the P4HB and CRTAP genes have been reported. PATIENT CONCERNS: A 14-month-old Chinese girl presented with prominent ocular proptosis, frontal bossing, craniosynostosis, plump anterior fontanel, growth retardation, osteopenia, and distinctive facial features that were strikingly similar to those in the original 2 cases. DIAGNOSES: Whole-exome sequencing revealed a novel deletion variation in exons 5 to 8 of the P4HB gene, which was found to be heterozygous using fluorogenic quantitative-polymerase chain reaction. LESSONS: This de novo deletion mutation in exons 5 to 8 of the P4HB gene advances our understanding of CLCRP1, expands the mutation spectrum of P4HB, and diversifies the cases reported for this condition.