ABSTRACT
BACKGROUND: This study reported a case of micropenis caused by a novel hemizygous mutation in the ADGRG2 gene, which aimed to expand the understanding of sexual dysplasia caused by ADGRG2 gene mutation. CASE PRESENTATION: We present the clinical data and genetic test results of a patient with micropenis admitted in September, 2022, to the Tongji Hospital. The patient was a 9-year-10- month-old male whose chief complaint was the presence of a short penis over a period of three years. In April 2016, the patient underwent corrective surgery for a clubbed penis. Upon admission to the study hospital, his height and weight were 145.0 cm (75-90th percentile) and 37.8 kg (50-75th percentile), respectively, and his BA was 12 years old. His physical characteristics included a normal face, bilateral testicle size of 2 ml, and penile length of about 3 cm. A gonadotrophin-releasing hormone-stimulating test revealed normal hypothalamic-pituitary-gonadal axis function. An HCG stimulation test indicated normal sperm production in the testis. Key abnormalities from auxiliary examinations included low testosterone and high ACTH, dehydroepiandrosterone sulfate, androstenedione, and 17-OH-P levels. Genetic testing revealed a new hemizygous mutation, a splicing mutation in intron 4 of the ADGRG2 gene (ChrX: 19040187 (NM_001079858.3): c.154 + 2T > A, inherited from the mother. CONCLUSION: This study reported a case of micropenis caused by a new hemizygous mutation in the ADGRG2 gene. This indicates the importance of genetic testing and gene-guided treatments to improve prognosis.
ABSTRACT
OBJECTIVE: To develop a new method for predicting adult height (PAH) based on the theory of Bayley-Pinneau and to evaluate the feasibility of this method in predicting adult height of girls with idiopathic central precocious puberty (ICPP) who were treated with gonadotropin releasing hormone agonist (GnRHa). METHOD: (1) The new method for PAH, i.e. PAH = Height/percentage of adult height for bone age, was established according to the theory of Bayley-Pinneau and the data from the national growth survey of children in the nine cities of China in the year 2005. (2) Data from seventeen female patients with ICPP received GnRHa treatment and achieved final adult height (FAH) were collected. Before and during the treatment, PAH was calculated by the method of Bayley-Pinneau and the new method. RESULT: The mean FAH(cm) of the 17 patients with ICPP was 159.81 ± 4.95. The PAH (cm), before and after treatment for 1, 2 and 3 years, were 156.53 ± 3.63, 157.71 ± 3.62, 158.60 ± 3.50, 161.46 ± 4.50 and 161.56 ± 3.77, 161.68 ± 3.44, 162.04 ± 4.42, 163.13 ± 2.36 respectively by using the new method (PAH-D) and Bayley-Pinneau method(PAH-BP). The mean value of (PAH-D-FAH) and (PAH-BP-FAH) were -1.96 cm and 1.48 cm. However, the 95% confidence interval was (-3.82 cm to -0.11 cm), (-1.60 cm to 4.55 cm) for (PAH-D-FAH) and (PAH-BP -FAH). There was no significant difference between the values obtained before and after treatment in terms of PAH by use of Bayley-Pinneau method. By the new method, however, the results showed that the PAH increased and improved further with prolonged treatment periods. And at the end of treatment, there was no significant difference between PAH and FAH. The correlation coefficient was 0.93. Regression analysis showed that the trend line was in parallel with baseline data. CONCLUSION: The new method we established could predict better the final heights of girls with CPP who were treated with GnRHa.
