Search

Objective: Being born small for gestational age (SGA) is frequently associated with unexplained disorders of sex development (nonspecific DSD) in boys. Little is known about their future growth, puberty and testicular function. Our objective is to determine the long-term endocrine outcome of boys born SGA who have a nonspecific DSD., Design: Boys with a nonspecific DSD born SGA and appropriate for GA (AGA) were retrieved through the International Disorders of Sex Development registry and retrospective data collected, based on a spreadsheet containing 102 items., Patients and Measurements: In total, 179 boys were included, of which 115 were born SGA and 64 were born AGA. Their growth and pubertal development were compared. Serum LH, FSH, testosterone, AMH and inhibin B levels in infancy and puberty were analysed to assess testicular function., Results: At 2 years of age, 30% of SGA boys had incomplete or absent catch-up growth. Boys born SGA also had higher LH during minipuberty and lower testosterone in stimulation tests (p = 0.037 and 0.040, respectively), as compared to boys born AGA. No differences were observed in timing or course of puberty or end-pubertal hormone levels., Conclusions: Almost one out of three SGA boys with a nonspecific DSD experiences insufficient catch-up growth. In addition, our data suggest dysfunction of infantile Leydig cells or altered regulation of the hypothalamic-pituitary-gonadal axis in SGA boys during childhood. Sex steroid production during puberty seems unaffected., (© 2021 John Wiley & Sons Ltd.)

The purpose of this study was to evaluate bone mass by phalanges ultrasound in healthy white and black schoolchildren in relationship to socioeconomic level, pubertal stage, and body composition. Included were 1,356 healthy schoolchildren aged from 6 to 11 years from different socioeconomic levels and both genders; all were placed into white and black groups. Weight, height, body mass index, fat percentage, fat mass, and lean mass were evaluated by anthropometric methods, and AD-SoS bone quantity and UBPI bone quality were evaluated using a third-generation IGEA phalanges DBM Sonic BP ultrasound. Data were compared using the Mann-Whitney, chi-squared, correlation coefficient, and analyses of multiple linear regression statistical tests with 5% significance. Black schoolchildren predominated in the low socioeconomic levels. Higher values of weight and height for black boys and girls were observed in the lean mass in relation to white children of the same gender and age. An increasing variation in the bone quantity mean was observed from 6 to 11 years of age and with pubertal stage for both genders and skin color. The white schoolchildren presented higher values of bone quantity and quality in relation to the black children. The anthropometric, gender, and socioeconomic level variables explained only 16 and 11% of the variability of bone quantity and quality, respectively. As such, the present study, carried out with healthy black and white Brazilian schoolchildren, demonstrated higher bone mass, as evaluated by ultrasound, in white than in black schoolchildren.

Introduction: Although it was common in the 1970s–1990s to assign female gender of rearing to 46,XY infants with limited virilization of varying etiologies, including those with partial androgen insensitivity syndrome (PAIS), long-term data on outcomes for these individuals are sparse. Therefore, our goal was to use the power of an international registry to evaluate clinical features, surgical management, and pubertal data in patients with a molecularly confirmed diagnosis of PAIS who were born before 2008 and were raised as girls. Methods: The current study interrogated the International Disorders of Sex Development Registry for available data on management and pubertal outcomes in individuals with genetically confirmed PAIS who were raised as girls. Results: Among the 11 individuals who fulfilled the key criteria for inclusion, the external masculinization score (EMS) at presentation ranged from 2 to 6 (median 5); 7 girls underwent gonadectomy before the age of 9 years, whereas 4 underwent gonadectomy in the teenage years (≥ age 13). Clitoral enlargement at puberty was reported for 3 girls (27%) who presented initially at the time of puberty with intact gonads. In the 9 individuals (82%) for whom gonadal pathology data were provided, there was no evidence of germ cell tumor at median age of 8.1 years. All girls received estrogen replacement, and 8/11 had attained Tanner stage 4–5 breast development at the last assessment. Conclusion: In general, although it appears that female assignment in PAIS is becoming uncommon, our data provide no evidence to support the practice of prophylactic prepubertal gonadectomy with respect to the risk of a germ cell tumor. [ABSTRACT FROM AUTHOR]

Complete androgen insensitivity syndrome (CAIS) is a rare condition characterized by 46,XY karyotype, female external genitalia, absence of uterus, and testes located intra-abdominally, in the inguinal ring or in the labia majora. In the present study, the frequency of testicular malignancy in prepubertal and pubertal patients with CAIS who underwent gonadectomy or gonadal biopsy were evaluated. Systematic review was performed using electronic databases according to the PRISMA-P (Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols) guidelines. The samples included 15 articles published between 1998 and 2019. From a total of 456 patients who underwent gonadectomy or gonadal biopsy, 6.14% had a premalignant lesion and most were postpubertal (82.14%). A malignant lesion was found in 1.3% and all were postpubertal. Because the risk of malignancy is very low in prepubertal patients with CAIS, gonadectomy may be delayed until puberty is complete, allowing it to progress naturally; however, close follow-up of the patient is required. [ABSTRACT FROM AUTHOR]

The aim of the present study was to evaluate quantitative ultrasound parameters of the finger phalanges bones (AD-SoS, amplitude-dependent speed of sound, and BTT, bone transmission time) of schoolchildren, using a DBM Sonic device (IGEA, Carpi, Italy), to obtain normative values for the Brazilian population. The sample consisted of 1,775 healthy schoolchildren, all females, aged 8-17 years. We observed a progressive increase for the variables of weight, height, body mass index (BMI), AD-SoS, and BTT with advancing age. Results for AD-SoS showed increasing and significant variation from 8 to 17 years old (1,938-2,103 m/s, an increase of 8.52%, P < 0.0001), and also for BTT (0.84-1.45 micros, an increase of 72.6%, P < 0.0001). A gradual increase in the values of AD-SoS and BTT was observed with advances in pubertal stages. There was an interaction between the variables of age, height, and pubertal stages, predicting AD-SoS (R (2) = 0.49) and BTT (R (2) = 0.53). The study showed that AD-SoS and BTT, evaluated by means of bone ultrasonometry of the phalanges in females, increase gradually with age, being more evident during puberty, probably as a reflex of the structural organization of bone growth and development, or changes in the content of the bone tissue. [ABSTRACT FROM AUTHOR]

Background: Ultrasensitive assays to measure pre-pubertal gonadotropins levels could help identify patients with Turner syndrome (TS) in mid-childhood, but studies in this field are scarce. The aim of this study was to analyze gonadotropins levels in girls with TS throughout childhood. Methods: Retrospective longitudinal study conducted with 15 girls with TS diagnosed with < 5 years whose FSH and LH measures were available since then. Hormones were evaluated in newborn/mini-puberty (< 0.5 years), early childhood (0.5–5 years), mid-childhood (5–10 years) and late childhood/adolescence (> 10 years). In newborn/mini-puberty and late childhood/adolescence pre-pubertal or pubertal gonadotropins were considered normal; in early childhood and mid-childhood concentrations above the pre-pubertal range were considered abnormal. Results: Abnormally high FSH alone was found in four of five patients in newborn/mini-puberty, 13 of 15 during early childhood and nine of 15 during mid-childhood. In the group of 12 patients in late childhood/adolescence, the three girls with spontaneous puberty had only normal levels; the remaining showed only post-menopausal concentrations. In mid-childhood one patient exhibited only pre-pubertal FSH. Conversely, most LH measurements in early and mid-childhood were normal. Conclusion: Karyotyping of girls with short stature and high FSH levels would allow early diagnosis of Turner syndrome in a significant number of patients, particularly when resources for chromosome study of all girls with growth deficiency are limited. [ABSTRACT FROM AUTHOR]