Molecular Basis of Leydig Cell and Downstream Signaling Dysfunction Causing Micropenis, Cryptorchidism, and/or Hypospadias
Document Type
Book Chapter
Publication Date
8-2025
Identifier
DOI: 10.1007/978-3-031-96376-6_20
Abstract
This chapter explores the function of the fetal Leydig cell in the regulation of the development of the lower male genital tract, the development and growth of the genital tubercle and the penis in the postnatal period, and the process regulating the descent of the fetal testis into the scrotum. Importantly, the chapter focuses on defining the consequences of disruption of these processes resulting in congenital anomalies. Collectively, birth defects of the genitourinary system are common, yet until recently the etiologies of these anomalies were rarely identified. In the male, these birth defects include those of the external genitalia (cryptorchidism, hypospadias, micropenis), as well as the upper urinary system (renal anomalies such as agenesis, horseshoe kidney, and hydronephrosis; and ureter defects such as vesicoureteral reflux, duplicated ureters, valves and bladder anomalies). With the advent of advanced next-generation sequencing and technologies such as array comparative genomic hybridization (also termed Chromosome MicroArray), there has been an explosion in the identification of genetic and genomic causes of lower tract male genitourinary anomalies. The knowledge of these molecular defects has been paradigm changing as in the past a genetic or genomic etiology was rarely considered in the clinical management of these patients. Herein, the major focus of this chapter is the examination of the role of the fetal Leydig cell in the molecular controls of the male external genitalia development, specifically the causes of cryptorchidism, micropenis, and/or hypospadias.
Journal Title
Leydig Cells
First Page
553
Last Page
578
Keywords
Fetal Leydig cell; Fetal testis; Male genitourinary anomalies; Cryptorchidism; Micropenis; Hypospadias; Steroid biosynthesis; Partial Leydig cell hypoplasia; Smith-Lemli-Opitz syndrome
Recommended Citation
Tannour-Louet, M., Lamb, D.J. (2025). Molecular Basis of Leydig Cell and Downstream Signaling Dysfunction Causing Micropenis, Cryptorchidism, and/or Hypospadias. In: Zirkin, B., Huhtaniemi, I., Lamb, D.J., Papadopoulos, V. (eds) Leydig Cells. Springer, Cham. https://doi.org/10.1007/978-3-031-96376-6_20
COinS
