ACTA ENDOCRINOLOGICA (BUC)

Introduction. Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that typically presents in childhood and involves multiple organ systems. Turner syndrome (TS) is a chromosomal condition resulting from complete or partial loss of one X chromosome. Both disorders can independently cause short stature and pubertal delay. Case Report. We present a 9-year-old girl diagnosed with NF1 at age 6, based on widespread café-aulait macules and a positive family history. She was referred to our pediatric endocrinology clinic for evaluation of severe short stature. Physical examination revealed TS stigmata, including height SDS: -4.07, cubitus valgus, webbed neck, low posterior hairline, and widely spaced nipples. Karyotype analysis confirmed mosaic TS: 45,X[12]/46,X,del(X) (p11.2)[18]. Cranial magnetic resonance imaging revealed hamartomatous lesions, an empty sella, and an optic pathway glioma, for which she had received chemotherapy. Laboratory findings were consistent with hypergonadotropic hypogonadism. Estrogen replacement therapy was initiated; however, recombinant human growth hormone treatment was declined by the family after counseling. Conclusions. This co-occurrence is exceedingly rare, with only a few pediatric cases having been reported in the literature. This dual diagnosis poses diagnostic and therapeutic challenges and necessitates a personalized approach to growth assessment, pubertal induction, and long-term tumor surveillance in pediatric endocrine care.

Introduction. Congenital hypothyroidism (CH) is a prevalent cause of intellectual disability, preventable with early detection and treatment. Levothyroxine (LT4) is the standard treatment, but its efficacy can be compromised by drug interactions. Case Description. We present an 18-day-old boy diagnosed with CH, who exhibited elevated thyroidstimulating hormone (TSH) levels despite LT4 treatment. Upon increasing the LT4 dose and observing persistent TSH elevation, further investigation revealed the concurrent use of simethicone-containing colic drops. Literature suggests that simethicone can interfere with LT4 absorption. The colic drops were discontinued, leading to normalized TSH levels. Additionally, macro-TSH, indicated by a polyethylene glycol (PEG) precipitation test, was considered to contribute to the elevated TSH levels. Discussion. This case underscores the necessity of thorough medication history reviews in patients with CH. Drug interactions, such as those with simethicone, can significantly impact LT4 efficacy. Moreover, the presence of macro-TSH should be considered when TSH levels are disproportionately elevated. Conclusion. Clinicians should be vigilant about over-the-counter medication use and potential interactions in managing CH. Comprehensive patient history and careful monitoring are critical to optimizing treatment outcomes.

Objective. We aimed to examine the auxological findings of girls diagnosed with idiopathic central precocious puberty (CPP) at the end of the GnRHa treatment and to investigate the effect of related factors on the height gain of those patients. Design. Single-center, descriptive, cross-sectional retrospective study. Method. A total of 43 patients who were diagnosed with idiopathic CPP and treated with GnRHa between 2012 - 2021 were included in to the study. Results. A decline in height standard deviation score (SDS) from 1.20 ± 0.14 to 1.02 ± 0.06 during the therapy was observed (P<0.001). The bone age/chronological age ratio was decreased and predictive adult height was increased at the end of the therapy (P<0.001; P=0.001). Both the rates of being overweight and obesity were increased (38.6% to 50% and 9% to 15.9%) when the treatment onset compared to the end of therapy. At the end of the treatment, the mean body mass index (BMI) SDS of the overweight patients was still higher compared to the normal-weight group (P<0.001). Conclusion. We observed a positive effect of GnRHa therapy on height potential. An increase in BMI during the therapy has been also demonstrated especially in subjects who were overweight before treatment.