Bone Phenotype is Always Present But Androgen Excess is Less Frequently Seen in PAPSS2 Deficiency

3'-Phosphoadenosine 5'-phosphosulfate synthase 2 (PAPSS2) deficiency is a rare disorder due to biallelic pathogenic variants in the PAPSS2 gene. This disorder was first described in 1998 by Ahmad et al. and Faiyaz ul Haque et al. To date, 79 patients with PAPSS2 deficiency have been reported. The main reported features of these patients are related to bone abnormalities and clinical/biochemical androgen excess. Disproportionate short stature and symptoms associated with spondylar skeletal dysplasia are the most common clinical features that require clinical attention. Androgen excess has been described much less commonly. This review summarizes the currently published clinical, molecular, and biochemical features of patients with PAPSS2 deficiency

Evaluation of brain MRI lesions in 381 girls with central precocious puberty

Central precocious puberty (CPP) in girls is a diagnosis increasingly made by the Pediatric Endocrinologists worldwide. Although it is most frequently of idiopathic origin, magnetic resonance imaging (MRI) of the brain is recommended to rule out organic lesions causing CPP. However, controversy exists regarding the age limits for routinely performing MRI in girls with CPP. Objective: To evaluate the outcome of brain MRI in girls diagnosed with CPP and its relationship with age and clinical and biochemical parameters. Method: A single-center, study of 381 girls with CPP who had brain imaging performed between 2008-2018. The results of imaging were categorised as Group 1:Normal, Group 2: incidental CNS lesions, Group 3: previously known CNS lesions Group 4: newly identified CNS lesions. Clinical and biochemical features of four groups were compared. Additionally, MRI lesion frequency was determined based on three age categories (8 years) Results: MRI findings were abnormal in 73 patients (19%). 18 girls (4.7%) had well known brain pathologies at the time of referral. In the remaining 363 girls with CPP, who had no CNS symptoms, MRI revealed CNS abnormalities in 55 girls. In 34 girls (8.9%) MRI findings were considered as incidental findings, which were not related to the early puberty. Another 21 girls (5.5%) had newly identified MRI abnormalities which were considered to be causally related to CPP. Among these, 19 lesions were non-neoplastic and included arachnoid cysts (6) pineal cysts (4) hydrocephaly (2) Chiari Type2 malformation (1) Dandy-Walker malformation(1) and others (5) not requiring surgical intervention during follow-up. There were only 2 tumoral lesions (0.5%) in the cohort (1 hamartoma and 1 glioma) and they required surgical intervention. These two cases were the youngest of the entire cohort (1.0 and 2.7 years of age respectively) and had the highest baseline LH and Estradiol levels. Otherwise, clinical and biochemical parameters were similar in 4 groups. Newly identified CNS lesions were detected throughout all ages including those above 8 years (Table). Conclusion: Although CNS lesions can be detected throughout all age categories in girls with CPP, only 5.5 % are causally related and most of them do not require intervention. CPP due to neoplastic lesions are detected in younger patients who also had a robust activation of pituitary-gonadal axis

Change of menarcheal age in schoolgirls living in Istanbul over the last 12 years

..

Decline in the Age of Menarche in Istanbul Schoolgirls Over the Last 12 Years

INTRODUCTION: Menarche is the endpoint of a sequence of maturational events of female puberty. The timing of menarche is a strongly heritable trait. However, secular trends suggest that lifestyle and environmental factors are important. To assess the trend in age at menarche (AAM), and its associated factors in İstanbul over the last 12 years. METHODS: A cross-sectional study was carried out between March and April 2022 on schoolgirls aged 9-18 years. A predesigned and self-administered questionnaire was filled out anonymously by the students. The data of AAM was included in the statistical analysis if the time of AAM is remembered in both months and years. A probit model was used to calculate the median AAM. The findings were compared with those from a study performed 12 years ago in the same region of İstanbul. RESULTS: Among 9000 girls to whom the questionnaire was distributed, 1749 (19.5%) responded. The median AAM of 1374 girls whose AAM information was considered valid was 12.04 years (95% confidence interval: 12.01-12.13), 0.7 years lower than was reported 12 years ago (p<0.0001). AAM was correlated positively with maternal AAM, and negatively with body mass index (BMI) standard deviation score and maternal educational status (p<0.0001, p<0.0001 and p=0.002), respectively. There was no correlation between the AAM and birth weight. Girls with BMI percentile ≥85% (n=251) had earlier menarche than the ones with BMI percentile <85% (n=1072) (11.5 vs. 12.1 years, p<0.0001). Among the mother-daughter pairs (n=1162), AAM of girls was 0.91 years (median 0.94 years) earlier than their mothers. DISCUSSION AND CONCLUSION: The present study demonstrates a significant downward trend in the menarcheal age in İstanbul over the last twelve years. These findings support a strong contribution from genetic factors and BMI on AAM

Cranial MRI abnormalities and long-term follow-up of the lesions in 770 girls with Central Precocious Puberty.

Context: Central precocious puberty (CPP) may arise from central nervous system (CNS) lesions in a few affected girls. Recently, the incidence of girls with CPP has increased mostly in 6-8 year olds, in whom the necessity of magnetic resonance imaging (MRI) is debated