Isolated follicle-stimulating hormone deficiency (IFSHD) can be caused by mutations in the gene encoding the beta chain of follicle-stimulating hormone (FSH). FSH is essential for normal puberty and fertility in females, particularly ovarian follicular development beyond the antral stage. In males, FSH is necessary for normal spermatogenesis and when FSH function is completely absent, infertility occurs. With partial FSH deficiency in males, spermatogenesis is affected, but fertility may still be possible.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Disorders of the pituitary hormone system
5A61 Hypofunction or certain other specified disorders of pituitary gland
H01253 Isolated follicle-stimulating hormone deficiency
Pathway-based classification of diseases [BR:br08402]
Endocrine system
nt06323 KISS1-GnRH-LH/FSH-E2 signaling
H01253 Isolated follicle-stimulating hormone deficiency