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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
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Klippel-Feil syndrome
Klumpke paralysis
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Kniest dysplasia
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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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The daddy of all pop idols
From Independent on Sunday, The, 12/28/03 by Phil Johnson

What's in a voice? It's a question worth asking, especially given the recent run of Pop Idol, that glorified Butlins' talent show for pub singers in waiting. Where on earth did their unnatural voices come from? And why, even when a singer could hold the notes, did they so often fail to involve us emotionally?

What seems to be missing is that quality identified by the philosopher Roland Barthes in his essay The Grain of the Voice. Using the example of a Russian cantor, Barthes says that what moves him is not technical perfection, but expression; something "brought to your ears in one and the same movement from deep down in the cavities ... as though a single skin lined the inner flesh of the performer and the music it sings ... The `grain' is that: the materiality of the body speaking its mother tongue."

He could have been talking about the singer Jimmy Scott, who on 12 January begins a two-week residency at Ronnie Scott's jazz club in London. Here's a man who has the grain in his voice like lettering in Blackpool rock. Now aged 78, and a little shaky on his feet, he doesn't have a lot of voice left, but what he does with it will bring tears to your eyes. Ask Nick Cave, who booked Scott to sing at his wedding.

Since emerging as a featured vocalist with the Lionel Hampton band in the late 1940s, an era when he was friends with Charlie Parker, Billie Holiday and Dinah Washington, Scott has been through more than the mill. Disastrous record contracts, several broken marriages and problems with alcohol led to him all but giving up. One of the greatest vocal stylists of the 20th century spent what should have been his peak years working day-jobs as a janitor or hotel clerk, and singing at retirement homes.

As happened so often with black artists in the era of rhythm and blues, "Little" Jimmy Scott (as he was called then), didn't reap the benefits of his strikingly original style. The white "cry-baby" crooner Johnny Ray - who watched Scott play at the Apollo Theatre in Harlem - stole his act. This debt is also the source of a remarkable sociological fact: for years, the dominant style of many British pub singers - the ancestors of today's Pop Idol wannabes - derived from the histrionic delivery that Ray learned from Scott.

Rediscovered in the late-Eighties, with his cause promoted by a diverse cast of admirers including Joe Pesci, Frankie Valli, Lou Reed, Bruce Springsteen and David Lynch, Scott began a new recording career in 1992. His first release, All The Way, remains one of the best jazz vocal albums ever. The latest, Moon Glow, is astonishingly good for a man of his age.

Typically, Scott bears neither Johnny Ray or his other imitators any ill will. "I didn't even think about it", he says, talking on the phone from Cleveland, Ohio, the city where he was born and still lives. "If what I did encouraged someone else, then fine. So many people put so much importance on what they do, but did they write the song?" Unlike Ray's onion-assisted sobs, however, Scott's tears were genuine. They were brought on by memories of his beloved mother, who had died in his arms after being hit by a car when he was a boy, and by the emotional pain he suffered due to the hereditary condition of Kallmann's Syndrome.

This hormonal deficiency meant that Scott, like Peter Pan, has never entirely grown up. It accounts not only for his small stature and boyish unshaven face, but also for his high, almost feminine, singing voice, which recalls those of his friends, Billie and Dinah. "A lot of the crying was because of my mother, but if anything affected me about the Kallmann Syndrome, that was when it came out, because a girlfriend or a wife hadn't understood about my physical disability", he says. "There were certain songs that touched home and I succumbed to the sadness, although I didn't cry every night."

You can read about Jimmy Scott's life in Faith In Time (Da Capo Press), the biography by David Ritz. But I wanted to know about his singing. "It's a story," Scott says. "Every song is like listening to a story or reading a book; first you get the theme of it, and then you begin to understand it." One of Scott's formative influences was Judy Garland, whose child- star films he saw when he was a kid himself. "She too had a notion to take a song and make a story of it; in her it was a lovely sincerity", he says.

Scott decided early on that slow songs were his particular forte. "Everybody was going after that hot tempo, giving a rhythm to what they sang, so I thought, `tell the story'. Setting it down in a ballad tempo would heal the substance of sadness, like a doctor giving a medicine. It consoled the inner self."

Where the grain of the voice might come in, is in the relationship of the singer to the song. "It's sharing part of your life with what the song is about," Scott says. "It's like Percy Mayfield or Ray Charles; they had that notion to put that feeling on you, the darkness of what life was about. If you look at their lives, the way they came through the life, you understand." Does that mean, I ask, that to sing about suffering, you have to have suffered? "It helps if you have had some experience, but it doesn't always come natural to the singer," he replies thoughtfully.

As to singers today, and the contestants of Pop Idol, whose US version Scott has watched, what advice can he offer them? "Study well the lyrics of the song," he says. "What is that story trying to say? Each writer writes a story of life and you have to learn how to project it. If it doesn't come natural, if they don't have that feeling, it doesn't work." When I mention the vocal gymnastics of Mariah Carey and company, Scott is unforgiving: "They overdo the thing, and I don't think they really benefit from it. If the song doesn't mean anything to them, how can it mean anything to you? It has to be part of life."

Jimmy Scott plays Ronnie Scott's, London W1 (020 7439 0747), 12 to 24 January

Sam Taylor-Wood


The show of photographs by Diane Arbus at the V&A. Her daughter has allowed all her notes and diaries to be on display for for the first time, which gives you an insight into the mind of this extraordinary woman.

Kevin Macdonald

Film director

I'm looking forward to watching Sofia Coppola's Lost in Translation (released 9 January) again. I saw it in the US and was amazed by how she manages to combine emotional delicacy and slap- stick comedy. It's achingly cool - but has a warm heart as well.

Stephen Deuchar

Director, Tate Britain

"Pre-Raphaelite Vision: Truth to Nature" at Tate Britain (February to May). Some of the old British prejudices against Victorian painting emerged in the critical response to the RA's "Andrew Lloyd Webber Collection" exhibition. But the show contained many beautiful and important works - a reminder, if one were needed, of the significance of the Pre-Raphaelite movement.

Stewart Lee


I'm looking forward to seeing the Japanese band The Boredoms at the Camber Sands All Tomorrow's Parties festival in April. I always enjoy seeing experimental avant-garde rock in East Sussex coastal towns.

Bob Stanley


A gig I've dreamed of for decades: Brian Wilson performing the beautiful, unfinished Smile album at the Royal Festival Hall in February.

Alice Rawsthorn

Director, the Design Museum

Having loved Bernardo Bertolucci's 1970s films, I am longing to see The Dreamers when it comes out in February. Set in Paris in May 1968 with a plot drawing on Les Enfants Terribles, it revisits many of the themes Bertolucci explored in his early films and is shot in the same decadent, languorous style.

Mark Ravenhill


I'm waiting to see what's on offer next year from the Arcola - a disused clothing factory in Hackney and currently the best theatre space in London.

Marc Quinn


Philip Guston at the Royal Academy (24 January to 12 April). Because he dared to break out of his idiom as an Abstract Expressionist to produce raw and vital work which now speaks to us a hundred times more directly than anything he had made before. But at the time he was ridiculed for them.

Copyright 2003 Independent Newspapers UK Limited
Provided by ProQuest Information and Learning Company. All rights Reserved.

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