Abstract
PurposeHigher grade aneuploidies (HGAs) of the male sex chromosomes are a rare genetic group of pathologies caused by nondisjunction meiotic events. The aim of this study was to evaluate the impact of early androgenic therapy on the testicular secretory hormone profile, and the pathophysiological implications.Patients and methodsIn this cross-sectional study, 18 HGA subjects aged 6–8 years were recruited. They were divided into two groups, based on whether or not they had previously undergone testosterone therapy (group 1: 11 untreated subjects; group 2: 7 treated subjects). Serum FSH, LH, testosterone (T), inhibin B (INHB) and anti-Müllerian hormone (AMH) were determined, and auxological parameters were assessed. Five group 1 patients and four group 2 patients were treated with hCG (human chorionic gonadotropin) for inguinal cryptorchidism; their hormone profile and auxological parameters were assessed both pre- and post-hCG treatment.ResultsGroup 1 subjects showed significantly higher testicular volume and higher levels of AMH and INHB (p < 0.0001). Subjects who had undergone hCG therapy showed a significantly higher testicular volume, penis length (respectively, p = 0.008 and p = 0.0005 for group 1 and p = 0.04 and p = 0.001 for group 2) and T (p = 0.005 for group 1 and p = 0.004 for group 2).ConclusionsHGA patients undergoing early testosterone therapy show an earlier and persistent suppression of testicular secretory function. At this age, the testes are still responsive to stimulation with hCG. The selection of patients to be treated must be accompanied by a thorough clinical and hormonal evaluation.
Highlights
Higher grade aneuploidies (HGAs) of the male sex chromosomes were first described by Marco Fraccaro in 1960, in an article in The Lancet, when he described a 7-year-old boy with 49 chromosomes [1]
We showed that these conditions are fully distinct from Klinefelter syndrome (KS) even though they share some features, such as testicular dysgenesis and hypergonadotropic hypogonadism
We demonstrated that HGA subjects show premature testicular damage, characterized by an earlier increase in gonadotropins and drop in testosterone (T) and inhibin B (INHB) [11]
Summary
Higher grade aneuploidies (HGAs) of the male sex chromosomes were first described by Marco Fraccaro in 1960, in an article in The Lancet, when he described a 7-year-old boy with 49 chromosomes [1]. The most common HGA is the 48,XXYY form, with an incidence of 1:18,000–1:40,000 males [2]. It is caused by a paternal nondisjunction during. The most common significant clinical features of HGAs are dysmorphic facial features, hypotonic musculature, tremors, skeletal deformities, genital anomalies, hypergonadotropic hypogonadism and neurologic and cognitive impairment. Their severity tends to be worse in subjects with 49 chromosomes, who are generally shorter [6,7,8,9,10]. We demonstrated that HGA subjects show premature testicular damage, characterized by an earlier increase in gonadotropins and drop in testosterone (T) and inhibin B (INHB) [11]
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