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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
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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.


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Jazz: Tinsel tonsils
From Independent on Sunday, The, 1/18/04 by Simmy Richman

A few hard-to-reach strands of tinsel are still hanging from the ceiling of Ronnie Scott's, a venue for which the term venerable jazz institution was probably invented. Never mind, the real cause for celebration is the return of Jimmy Scott, the man who sang with Lionel Hampton in the 1940s, and who - as a result of Kallmann's Syndrome, a hereditary hormonal deficiency that stunted his growth and stopped his voice developing - was often credited as Irma Curry on his early Decca 78s.

First night, first sign of trouble. Halfway through Monday's second set, Scott collapses with a suspected minor stroke. Probably best to call before setting out for Wednesday night's performance. Not to worry, he was given the all-clear by doctors and the show will go on.

His backing band the Jazz Expressions limbers us up, with drummer Dwayne Broadnax (great jazz name) leading the way. The group's musical director is the (equally brilliantly named) stick-bassist Hilliard Hill Greene, but it is saxophonist TK Blue (The Fast Show couldn't have made this up) who acts as frontman. Depressingly, it is one of Blue's compositions we hear next. Scott is nowhere to be seen.

Then, 10 minutes of dexterous-but-dull jazz noodling later, Blue steps up to the mic and announces: "Ladies and gentlemen, jazz legend, the great Jimmy Scott." The Expressions start to express themselves once more. Blue peers worriedly round the grand piano. At 78, Scott is a little slow to appear, but appear he finally does, launching into "All of Me", a song forever associated with Billie Holiday.

His voice (and appearance) is as strange as it is captivating, the quality it possesses weird and wondrous. The tone is that of an old record - you half expect to hear dusty crackles every time Scott puts his mouth to the microphone.

Three songs in, and he is off for a rest. Bless. More Expressions, before Scott reappears for a bluesy rendition of "There Must Be a Better World Somewhere" and the first set is over, just as things were picking up.

The second set starts as the first did. No sign of Scott. He shuffles back on and picks up "Blue Skies", light as Lester Young, blue as the skies he is singing about.

It would be small-minded to quibble about Scott taking things easy at this stage. He is nearly 80, has just suffered a minor stroke and looks frail enough for an over-enthusiastic parp from TK's sax to blow him off stage. So why do we sit here till 2am to hear him sing? Because, like the club he is playing in for the next week, the real cause for celebration may be over, but there is still enough tinsel in those tonsils to remind us of why we are here.

Simmy Richman

Jimmy Scott: Ronnie Scott's, London W1 (020 7439 0747), to Saturday

Copyright 2004 Independent Newspapers UK Limited
Provided by ProQuest Information and Learning Company. All rights Reserved.

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