Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder caused by the
deficient production, secretion or action of gonadotropin-releasing hormone (GnRH), which …

Congenital anomalies of the kidney and urinary tract (CAKUT) refer to a spectrum of
structural renal malformations and are the leading cause of end-stage renal disease in …

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

D. Adulthood III. Historical Perspective IV. Clinical Presentation of GnRH Deficiency A.
Congenital GnRH deficiency B. Adult-onset GnRH deficiency C. Variant or partial forms of …

Infertility in women has many possible causes and must be approached systematically. The
most common cause of medically treatable infertility is the polycystic ovary syndrome …

The Kallmann syndrome (KS) combines hypogonadotropic hypogonadism (HH) with
anosmia. This is a clinically and genetically heterogeneous disease. KAL1, encoding the …

Context: The complexity of genetic testing in Kallmann syndrome (KS) is growing and costly.
Thus, it is important to leverage the clinical evaluations of KS patients to prioritize genetic …

OBJECTIVE The association of idiopathic hypogonadotrophic hypogonadism (IHH) with
congenital olfactory deficit defines Kallmann's syndrome (KS). Although a small proportion of …

As our knowledge of the molecular mechanisms underlying idiopathic hypogonadotropic
hypogonadism (IHH) expands, it becomes increasingly important to define the phenotypic …

We report on the clinical and molecular findings in 25 males and three females with
Kallmann syndrome (KS) aged 10–53 yr. Ten males were from five families, and the …