Martina Rezzuto

Underlying Hashimoto's thyroiditis negatively affects the evolution of subclinical hypothyroidism in children irrespective of other concomitant risk factors

BACKGROUND The pediatric literature does not contain any studies comparing the evolution of Hashimotos thyroiditis (HT)-related subclinical hypothyroidism (SH) with idiopathic SH longitudinally. AIM AND DESIGN In the present study, the two-year evolution of HT-related SH in 32 children with no concomitant risk factors (group A) was compared to that observed in 90 age-matched children with idiopathic SH (group B). The aim was to ascertain whether the association with HT could, per se, affect the evolution of thyroid status over time in SH children irrespective of other coexisting factors, such as thyromegaly, association with other autoimmune diseases, and/or concomitant therapies. RESULTS During the two-year follow-up, the percentage of children whose thyrotropin (TSH) values increased >10 mIU/L was significantly higher in group A (p<0.0005), whereas the percentages of those who either maintained a stable TSH (5-10 mIU/L) or normalized the TSH (<5 mIU/L) were significantly higher in group B (p<0.025). Moreover, the percentage of children who developed a pathological thyroid enlargement during follow-up was significantly higher in group A (p<0.0005). CONCLUSIONS The association with HT exerts a negative influence on the evolution over time of mild SH, irrespective of other concomitant risk factors. In children with mild and HT-related SH, the risk of a deterioration in thyroid status over time is high (53.1%), while the probability of spontaneous TSH normalization is relatively low (21.9%). In contrast, in children with mild and idiopathic SH, the risk of a deterioration in thyroid status over time is very low (11.1%), whereas the probability of spontaneous TSH normalization is high (41.1%).

Precocious puberty in Turner Syndrome: report of a case and review of the literature

IntroductionTurner Syndrome (TS) is caused by monosomy or structural abnormalities of the X chromosome, with a prevalence of about 1/2000 females live birth. Most important clinical features of TS are short stature and gonadal failure. Approximately one third of girls with TS may undergo spontaneous puberty. Here we report on the case of a girl with a rare 45X0/47XXX mosaic TS exhibiting a precocious puberty.Case reportThe patient was diagnosed with TS at the age of 4 years, upon a diagnostic work-up for dysmorphic features. Chromosome analysis revealed a mosaic karyotype (45X0/47XXX). She presented with normal height and normal growth velocity so that Growth Hormone (GH) therapy was not started. She was referred to our Department at the age of 7 years and 10 months, because of vaginal bleeding. A physical examination revealed a Tanner stage III for breast and Tanner stage III for pubic hair development. Height and weight were within the normal range for age. Psychological evaluation showed moderate global developmental delay, together with emotional and social immaturity and reading difficulties. The growth rate was accelerated. Her bone age was 10 years. Pelvic ultrasound demonstrated increased size for age of both the uterus and the ovaries, with bilateral ovarian follicles. GnRH stimulation test revealed pubertal response of gonadotropins (peak LH 22.5 mIU/ml). MRI of the brain was normal. These clinical, radiologic and laboratory findings were consistent with a diagnosis of idiopathic central precocious puberty; therefore, GnRH analog therapy was started, in order to slow pubertal progression and to preserve adult stature. Furthermore, GH treatment was added to further improve adult height.ConclusionOur case highlights the possibility of precocious puberty as an atypical clinical feature of TS. Thus, precocious puberty may occur in TS girls when a dosage compensation by the cell line with more than two X chromosomes allows normal ovarian function. GnRH analog therapy in addition to GH treatment should be recommended in TS girls with precocious puberty in order to slow pubertal progression and to preserve adult stature.

Pubertà precoce: diagnosi e terapia

SommarioIn questa rassegna vengono analizzati gli aspetti eziologici, diagnostici, terapeutici e prognostici della pubertà precoce. Viene quindi affrontato il problema clinico di differenziare tra forme centrali, periferiche e varianti benigne della norma, focalizzando poi l’attenzione sulle prime, di cui viene discusso l’iter diagnostico e le indicazioni e modalità di trattamento. Infine, vengono analizzate le più recenti evidenze sugli outcome associati alla terapia bloccante nel medio e lungo termine.