STUDY QUESTION Which genes are confidently linked to human monogenic male
infertility? SUMMARY ANSWER Our systematic literature search and clinical validity …

A genetic basis of congenital isolated hypogonadotropic hypogonadism (CHH) can be
defined in almost 50% of cases, albeit not necessarily the complete genetic basis. Next …

Abstract Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency (IGD) IGD is a
genetically and clinically heterogeneous disorder. Mutations in many different genes are …

Idiopathic hypogonadotropic hypogonadism (IHH) has an incidence of 1–10 cases per
100,000 births. About 60% of patients with IHH present with associated anosmia, also …

Between the genetic extremes of rare monogenic and common polygenic diseases lie
diverse oligogenic disorders involving mutations in more than one locus in each affected …

Masculinization depends on adequate production of testosterone by the fetal testis within a
specific “masculinization programming window.” Disorders resulting from subtle deficiencies …

Idiopathic hypogonadotropic hypogonadism (IHH) with anosmia (Kallmann syndrome; KS)
or with a normal sense of smell (normosmic IHH; nIHH) are heterogeneous genetic …

CHARGE syndrome and Kallmann syndrome (KS) are two distinct developmental disorders
sharing overlapping features of impaired olfaction and hypogonadism. KS is a genetically …

Gonadotropin hormone-releasing hormone (GnRH) is the key regulator of the reproductive
axis. Its pulsatile secretion determines the pattern of secretion of the gonadotropins follicle …

Background Functional hypothalamic amenorrhea is a reversible form of gonadotropin-
releasing hormone (GnRH) deficiency commonly triggered by stressors such as excessive …