Investigation and analysis of anti-mullerian hormone, inhibin B and sex hormone levels in 101 children with disorders of sex development / 中国医师杂志

ABSTRACT

Objective:To compare anti-mullerian hormone (AMH) , sex hormone and inhibitor B (Inhibin B, INH-B) levels in children with different karyotypes, ages, and gender disorders of sex developmemt (DSD).Methods:A total of 101 patients with suspected gonadal dysplasia in children who underwent serological examination at the Children′s Hospital of Hunan Province from January 2019 to June 2019 were finally diagnosed by pathological biopsy. With reference to previous studies of the same type, the 101 patients included in this study were divided into 4 levels (<1 year old, 1-2 years old, 2-4 years old, >4 years old), and the social gender was divided into two levels male and female. At the same time, 89 cases of normal gonadal development children without endocrine abnormality were selected as control. Serum levels of AMH, INH-B, luteinizing hormone (LH), follicle stimulating hormone (FSH), estradiol (E2), prolactin (PRL) and testosterone (T) were measured by chemiluminescence method.Results:Among the 101 cases, 62 were male and 39 were female; aged 23 days to 12 years, with a median age of 3.3 years; karyotype 52 cases were 46, XX; 21 cases were 46, XY; 12 cases were 45, X; 7 cases were 46X, del (Xq); 5 cases were 46X, i (Xq); 2 cases were 45X, inv9; 2 cases were 45X / 46XX. There were 65 cases of partial gonadal dysplasia, 25 cases of disappearing testicular syndrome, and 11 cases of mixed gonadal dysplasia. One patient had a family history of infertility. Among the causes of children′s consultation, the most common were abnormal appearance of the external genitalia (54 cases, 53.47%), followed by small penile development and / or scrotal emptiness (25 cases, 24.75%). Other reasons included primary amenorrhea, double lateral groin mass, hypertension, clitoral hypertrophy, and labia minora adhesions. The levels of serum AMH, INH-B, and T in the gonadal dysplasia group were significantly higher than those in the normal gonadal development group, while the levels of LH, FSH, E2, and PRL were significantly lower than those in the normal gonadal development group ( P<0.05). The INH-B level of children with gonadal dysplasia in different age groups was statistically significant ( P<0.05), in which the INH-B level was the highest in <1-year-old children with gonadal dysplasia, and the lowest in 2-4-year-old children with gonadal dysplasia; the LH, FSH, E2, PRL, T levels of 46, XX and other karyotypes were statistically significant ( P<0.05); Compared with other age groups, the levels of LH, FSH, E2, and PRL were relatively higher in >4 year-old children with gonadal dysplasia, while the level of T was relatively lower; There were significant differences in E2, PRL and T levels in children with gonadal dysplasia in different age groups of 46, XY karyotype ( P<0.05). Compared with other age groups, E2, PRL and T levels of children with gonadal dysplasia >4 year-old old were relatively higher and T levels were relatively lower. The levels of AMH, LH, FSH, E2 and PRL in boys with glandular dysplasia were lower than those in girls ( P<0.05), while the levels of INH-B and T were higher in boys than those in girls ( P<0.05). Conclusions:The levels of anti-mullerian hormones, inhibin B, and sex hormones in children with gonadal dysplasia are different from the normal population, and may be related to the age, chromosome karyotype, and gender distribution of the child, but there are some confounding factors (such as etiology, treatment Scheme), so more samples are needed to verify it.