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 disease
Brite
Human diseases [BR:br08402]
Endocrine and metabolic diseases
Hypothalamus and pituitary gland diseases
H01253 Isolated follicle-stimulating hormone deficiency
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 specified disorders of pituitary gland
H01253 Isolated follicle-stimulating hormone deficiency