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ObjectiveTo characterise changes in testicular size and reproductive hormones and to investigate the aetiology of delayed puberty and impaired fertility in males with Noonan syndrome (NS).DesignIn this study, 12 males with NS were longitudinally followed from pre/early puberty until adulthood. Of the 12 males, ten had no medical history other than NS and were divided into two groups, undescended testes (UT), and descended testes (DT) and compared with a reference population.MethodsHormone concentrations in serum were determined by immunoassays and testicular volume was measured using an orchidometer.ResultsBefore puberty, reproductive hormone levels were within the expected range in almost all cases. In some cases, LH, FSH and testosterone and oestradiol (E2) concentrations started to increase during puberty and inhibin B and anti-Müllerian hormone (AMH) declined to subnormal levels. Most of the boys studied had small testes that, in the majority of cases, progressed to normal size in adulthood. No difference in reproductive hormones was observed between the UT and DT groups either during puberty or at adulthood. However, as adults, males with NS had higher LH (5.7 vs 4.0 U/l, PPP2 (66 vs 46 pmol/l, PPPConclusionsIn NS males, both Sertoli and Leydig cell dysfunction is common with reproductive hormone levels deteriorating progressively to adulthood.

Are Estradiol results determined by the tandem mass spectrometry assay clinically useful for children? : reply

Objective: In males, the pubertal increase in sex hormone production has been associated with proatherogenic changes in lipid and carbohydrate metabolism. Aromatase inhibitors, a novel treatment modality for some growth disorders, may significantly influence these risk factors for cardiovascular disease by suppressing oestrogen biosynthesis and stimulating gonadal androgen production. In the current study, we explored the effects of aromatase inhibition on lipid metabolism, insulin sensitivity, body composition and serum adiponectin in peripubertal boys. Design: Prospective, double-blind, randomised, placebo-controlled clinical study. Methods: Thirty-one boys, aged 9.0–14.5 years, with idiopathic short stature were treated with the aromatase inhibitor letrozole (2.5 mg/day) or placebo for 2 years. During the treatment, the concentrations of sex hormones, IGF-I, lipids, lipoproteins and adiponectin were followed-up. The percentage of fat mass (FM) was assessed by skinfold measurements and insulin resistance by homeostasis model assessment (HOMA) index. Results: In pubertal boys, who received letrozole, high-density lipoprotein cholesterol (HDL-C) decreased by 0.47 mmol/l (PP Conclusions: In males, aromatase inhibition reduces HDL-C and decreases relative FM after the start of puberty. The treatment does not adversely affect insulin sensitivity in lean subjects.

OBJECTIVE: To determine whether there is evidence for impaired testicular function at final height in short boys treated with growth hormone (GH) during their childhood and adolescence. STUDY DESIGN: The analysis was restricted to males who had isolated GH deficiency or idiopathic short stature, and who were included in the Swedish National Registry and the Swedish GH trials. The subjects had to have been treated with GH for at least 4 years; the treatment had to have been started prepubertally, given for at least one year before the onset of puberty and the subjects had to have reached final height. One hundred and eleven boys fulfilled the criteria. METHODS: Testicular volumes were determined by orchidometer in each boy when GH treatment was started and at final height. Samples for testosterone measurements were collected from 77 boys at final height, and were measured by RIA. RESULTS: Each subject had normal testicular size (15 ml or more) and for those in whom concentrations were determined, serum testosterone levels and diurnal rhythm were normal. CONCLUSIONS: The results of our survey do not show evidence of testicular impairment following GH therapy.

We thank Kushnir and coworkers1 for addressing the subject of how estradiol (E2) is used clinically in pediatric endocrinology. As Kushnir et al2 mention in the introduction of their original article, high-sensitivity methods for accurate measurements of E2 concentrations are necessary for the diagnosis of sex hormone–related disorders, precocious puberty (PP), and E2 deficiency and for determining the strategy for antiestrogenic treatment. Although PP is a clinical diagnosis, the laboratory testing for sex hormones in children suspected of having PP is performed not only for confirming the diagnosis but also, most importantly, to help diagnose the origin of the condition or disease and for the treatment strategy. For girls with PP with prepubertal E2 levels Figure 1 , the origin can be exogenous estrogens or an ovarian cyst that has produced transient estrogens. PP with low E2 levels in the early puberty range (Figure 1) (in combination with increased luteinizing hormone [LH]/follicle-stimulating hormone [FSH]) can be an indication of a low tempo of the pubertal development and may not need treatment with a long-acting gonadotropin releasing hormone agonist, but patients will need close follow-up. PP with high E2 levels in the midpubertal range with increased LH/FSH needs treatment and further investigation of the origin of PP, eg, magnetic resonance imaging of the central nervous system for tumor. These are examples from routine clinical practice showing how important …