What are the clinical manifestations of Kallmann syndrome?

Kallmann's syndrome is actually a form of hypogonadism. The main cause of this disease is genetic effects, such as chromosomal dominant and recessive inheritance. Generally, patients with Kallmann syndrome will have more obvious symptoms, such as cessation of menstruation, genital hypoplasia, decreased sense of smell, etc., so everyone should check their bodies in time.

Kallmann syndrome (KS) is a type of hypogonadotropic hypogonadism associated with anosmia or hyposmia. It is a clinically and genetically heterogeneous disease. KS can be familial or sporadic, and there are three modes of inheritance: X-linked recessive, autosomal dominant, and autosomal recessive.

Clinical manifestations

1. Hypogonadism: Most male patients have a larger lower body than upper body, a eunuch-like body shape, immature external genitalia, a short penis, small or hidden testicles, and lack of development of secondary sexual characteristics during puberty (no beard, axillary hair, pubic hair growth, no voice change). Female patients have underdeveloped internal and external genitalia, no breast development during puberty, no growth of axillary or pubic hair, and no menstruation.

2. Loss or decreased sense of smell: Patients may experience complete loss of smell and be unable to distinguish between fragrance and odor, but some patients may only experience decreased sense of smell.

3. Related physical abnormalities: In addition to GnRH deficiency and anosmia, KS may be accompanied by a variety of physical abnormalities, including midline facial developmental defects such as cleft lip, cleft palate, short metacarpals and abnormal kidney development. Neurologic manifestations include sensory hearing loss, mirror movements (synkinesis), eye movement abnormalities, and cerebellar ataxia. To date, renal dysplasia and mirror-image movements have only been found in X-linked KS.