Kallmann syndrome is an X-linked disorder that results from disruption of hypothalamic GnRH neuron development and presents with associated olfactory nerve agenesis or hypoplasia, leading to hyposmia/anosmia (16). [jci.org]

Congenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and Future. Endocrinol Metab (Seoul). 2015 Dec;30(4):456-66. doi: 10.3803/EnM.2015.30.4.456. Review. [medlineplus.gov]

KS patients typically present with delayed puberty, and the reproductive phenotype may range from genital hypoplasia (i.e., cryptorchidism and/or microphallus) through partial puberty to reversal of hypogonadotropism later in life [2–4]. [tandfonline.com]

These findings together with the present case suggest that SOX10 haploinsufficiency has wide clinical variation. In summary, we identified a novel SOX10 variant in a Japanese girl first diagnosed with WS4C and KS. [nature.com]

If not enough of these hormones are made, the child will not enter puberty and will not be able to have children of their own without special treatment. [rch.org.au]

ANDROGENE OESTROGENE HORMONE STEROIDE SEXUELLE HYPOTHALAMUS PATHOLOGIE ENDOCRINOLOGIE Keyword (en) KALLMANN SYNDROME HMG HCG CHEMOTHERAPY FSH LH TESTOSTERONE ESTRADIOL BLOOD HORMONAL INVESTIGATION HUMAN ENDOCRINOPATHY GLYCOPROTEIN HORMONE GONADOTROPIN TREATMENT [pascal-francis.inist.fr]

Without treatment, most affected men and women are unable to have biological children (infertile). In Kallmann syndrome, the sense of smell is either diminished (hyposmia) or completely absent (anosmia). [medlineplus.gov]

These findings thus suggest a link between CHD7 and at least some of the genes implicated in the etiology of isolated KS. [tandfonline.com]

Several genetic variants have been linked to the etiology of KS with hearing loss, including KAL1, FGFR1, FGF8, IL17RD, and CHD77,8,9,10. Recently, variants in SOX10 have been identified in a few KS patients with hearing loss11. [nature.com]

Gonadotropin-releasing hormone deficiency in the human: pathophysiological and genetic considerations. Endocrine Reviews, 1998, 19: 521–539. [link.springer.com]

Misplacement of GnRH-producing neurons in the brain prevents the production of other sex hormones, which interferes with normal sexual development and causes the characteristic features of hypogonadotropic hypogonadism. [medlineplus.gov]