Find information on thousands of medical conditions and prescription drugs.

Kallmann syndrome

Kallmann syndrome is an example of hypogonadism (decreased functioning of the sex hormone-producing glands) caused by a deficiency of gonadotropin-releasing hormone (GnRH), which is created by the hypothalamus. Kallmann syndrome is also known as hypothalamic hypogonadism, familial hypogonadism with anosmia, or gonadotropic hypogonadism, reflecting its disease mechanism. more...

Kallmann syndrome
Kallmann syndrome
Kallmann syndrome
Kallmann syndrome
Kaposi sarcoma
Karsch Neugebauer syndrome
Kartagener syndrome
Kawasaki syndrome
Kearns-Sayre syndrome
Kennedy disease
Keratoconjunctivitis sicca
Keratosis pilaris
Kikuchi disease
Klinefelter's Syndrome
Klippel Trenaunay Weber...
Klippel-Feil syndrome
Klumpke paralysis
Kluver-Bucy syndrome
Kniest dysplasia
Kohler disease
Korsakoff's syndrome
Kostmann syndrome
Seborrheic keratosis

Kallman syndrome was described in 1944 by Franz Josef Kallmann, a German geneticist. However, others had noticed a correlation between anosmia and hypogonadism before this such as the Spanish doctor Aureliano Maestre de San Juan 80 years previously.


Kallmann syndrome is characterized by:

  • Hypogonadotropic hypogonadism (a lack of the pituitary hormones LH and FSH)
  • Congenital (present from birth) anosmia (complete inability to smell) or hyposmia (decreased ability to smell).

It can also be associated with optic problems, such as color blindness or optic atrophy, nerve deafness, cleft palate, cryptorchidism, renal agenesis, and mirror movement disorder. However, it is not clear at this time how or if these other problems have the same cause as the hypogonadism and anosmia and these other problems are more often present in those without Kallmann syndrome.

Males present with delayed puberty and may have micropenis (although congenital micropenis is not present in the majority of male KS cases).

Females present with delayed puberty i.e.primary amenorrhea and lack of secondary sex characteristicd, such as breast development.


The diagnosis is often one of exclusion found during the workup of delayed puberty. The presence of anosmia together with micropenis in boys should suggest Kallmann syndrome (although micropenis alone may have other causes).


Under normal conditions, GnRH travels to the pituitary gland via the tuberoinfundibular pathway, where it triggers production of gonadotropins (LH and FSH). When GnRH is low, the pituitary does not create the normal amount of gonadotropins. The gonadotropins in turn affect the production of hormones in the gonads, so when they are low, the hormones will be low as well.

In Kallmann syndrome, the GnRH neurons do not migrate properly from the olfactory placode to the hypothalamus during development. The olfactory bulbs also fail to form or have hypoplasia, leading to anosmia or hyposmia.

Kallman syndrome can be inherited as an X-linked recessive trait, in which case there is a defect in the KAL gene, which maps to chromosome Xp22.3. KAL encodes a neural cell adhesion molecule, anosmin-1. Anosmin-1 is normally expressed in the brain, facial mesenchyme, mesonephros and metanephros. It is required to promote migration of GnRH neurons from the hypothalamus to the pituitary gland. It also allows migration of olfactory neurons from the olfactory bulbs to the hypothalamus.


Treatment is directed at restoring the deficient hormones -- known as hormone replacement therapy (HRT). Males are administered human chorionic gonadotropin (hCG) or testosterone. Females are treated with oestrogen and progestins.


[List your site here Free!]

Jimmy Scott's frailty just adds to his performance
From Milwaukee Journal Sentinel, The, 1/31/05 by DAVE TIANEN

Jimmy Scott's frailty just adds to his performance reviewS

The twilight becomes Jimmy Scott.

Saturday night at Alverno College's Pitman Theater, Scott seemed to carry all of his 79 hard-lived years on stage with him. He walked slowly, stiffly, painfully, with a pronounced limp. Age and Kallmann syndrome working in tandem have frozen his diminutive body in a withered caricature of childhood.

Because of the rare genetic condition, Scott never achieved normal adult growth. For almost all of his one-hour set, he performed seated on a stool and sang only about a half-dozen songs. He seemed as fragile as a snowflake.

Yet that very fragility works for him. The once-great voice has lost the brilliant sheen of its youth. Yet, like Billie Holiday at the end, the fraying merely underscores the poignancy. There has always been a painful yet magical vulnerability about little Jimmy Scott, and the frailty of age merely reinforces it.

It shows up in unexpected ways. On the face of it, "All the Way" is not a sad song. If anything, it's an upbeat affirmation of the power of commitment. But in the hands of Scott, a transformation takes place. He slows it way down, at perhaps half the tempo Frank Sinatra did it.

The phrasing is halting, the sentiment tender. There is a sense of wisdom and reflection. This is an affirmation from a man who has tasted the bitter with the sweet, and he understands the power of both.

The phrasing is really quite remarkable. Saturday's set list came from some of the most familiar pages of the American songbook "Sometimes I Feel Like a Motherless Child," "Embraceable You," "Masquerade," "Blue Skies" yet the readings were strikingly singular.

There are prolonged and unexpected pauses: "Sometimes . . . I feel . . . like a motherless child."

Scott was orphaned at 14. He almost murmurs the lines. You have the sense of a wound that has never healed.

Even with the short set, Scott's band, the Jazz Messengers, was obviously there in part to lessen the load. They opened the evening with an instrumental set and took center stage for an up-tempo "Secret Love" while Scott took a mid-set break.

From the look of things Saturday, it was natural to wonder if we are likely to see Scott again. If not, Alverno gave its patrons a special privilege, a closing glimpse of a remarkable stylist who has taken his life's greatest affliction and turned it into powerful art.

Copyright 2005, Journal Sentinel Inc. All rights reserved. (Note: This notice does not apply to those news items already copyrighted and received through wire services or other media.)

Copyright 2005 Journal Sentinel Inc. Note: This notice does not apply to those news items already copyrighted and received through wire services or other media
Provided by ProQuest Information and Learning Company. All rights Reserved.

Return to Kallmann syndrome
Home Contact Resources Exchange Links ebay