Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE), CONICET-FEI-División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina.
Departamento de Histología, Embriología, Biología Celular y Genética, Facultad de Medicina, Universidad de Buenos Aires, Buenos Aires, Argentina.
Clin Endocrinol (Oxf). 2024 Nov;101(5):455-465. doi: 10.1111/cen.14979. Epub 2023 Oct 10.
The hypothalamic-pituitary-testicular axis is characterised by the existence of major functional changes from its establishment in fetal life until the end of puberty. The assessment of serum testosterone and gonadotrophins and semen analysis, typically used in the adult male, is not applicable during most of infancy and childhood. On the other hand, the disorders of gonadal axis have different clinical consequences depending on the developmental stage at which the dysfunction is established. This review addresses the approaches to evaluate the hypothalamic-pituitary-testicular axis in the newborn, during childhood and at pubertal age.
We focused on the hormonal laboratory and genetic studies as well as on the clinical signs and imaging studies that guide the aetiological diagnosis and the functional status of the gonads.
Serum gonadotrophin and testosterone determination is useful in the first 3-6 months after birth and at pubertal age, whereas AMH and inhibin B are useful biomarkers of testis function from birth until the end of puberty. Clinical and imaging signs are helpful to appraise testicular hormone actions during fetal and postnatal life.
The interpretation of results derived from the assessment of hypothalamic-pituitary-testicular in paediatric patients requires a comprehensive knowledge of the developmental physiology of the axis to understand its pathophysiology and reach an accurate diagnosis of its disorders.
下丘脑-垂体-睾丸轴的特点是从胎儿期到青春期结束存在主要的功能变化。血清睾酮和促性腺激素以及精液分析通常用于成年男性，但在婴儿期和儿童期的大部分时间内并不适用。另一方面，性腺轴的障碍根据功能障碍发生的发育阶段而具有不同的临床后果。这篇综述讨论了评估新生儿、儿童和青春期下丘脑-垂体-睾丸轴的方法。
我们重点关注了激素实验室和遗传研究以及指导病因诊断和性腺功能状态的临床体征和影像学研究。
血清促性腺激素和睾酮的测定在出生后 3-6 个月和青春期有用，而 AMH 和抑制素 B 是从出生到青春期结束评估睾丸功能的有用生物标志物。临床和影像学体征有助于评估胎儿和产后生命中睾丸激素的作用。
对儿科患者下丘脑-垂体-睾丸轴评估结果的解释需要全面了解轴的发育生理学，以了解其病理生理学并准确诊断其障碍。
