Romina P Grinspon

TL;DR: Understanding the pathogenesis is useful for an efficient early diagnosis approach, which is necessary for adequate decision making in the management of DSD.

TL;DR: In the prepubertal male, Sertoli cells are the most active testicular cell population as mentioned in this paper, and without stimulation tests, hypogonadism can only be evidenced if SERToli cell function is assessed.

TL;DR: The lack of elevation of gonadotropins in adolescents or adults with primary gonadal failure is indicative of a combined hypogonadism involving the gonads and the hypothalamic‐pituitary axis.

TL;DR: Serum AMH measurements are useful, together with testosterone determination, in the diagnosis of patients with ambiguous genitalia: both are low in patients with gonadal dysgenesis, including ovotesticular disorders of sex development, testosterone is low but AMH is in the normal male range or higher in Patients with disorders of androgen synthesis, and both hormones are normal or high in patientswith androgen insensitivity.

TL;DR: It is concluded that in trisomy 21, primary hypogonadism involves a combined dysfunction of Sertoli and Leydig cells, which can be observed independently of cryptorchidism soon after birth, thus prompting the search for new hypotheses to explain the pathophysiology of gonadal dysfunction in autosomaltrisomy.