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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
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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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A sweet voice revives, lives on
From Milwaukee Journal Sentinel, The, 1/25/05 by DAVE TIANEN

A sweet voice revives, lives on

There's a bittersweet irony at the center of Jimmy Scott's life, for his defining gift is also his greatest burden.

Scott was born with a genetic defect called Kallmann's Syndrome, which meant he never experienced normal male puberty. His voice remained high and pure and brilliant.

Madonna once said Scott was "the only singer who makes me cry." When the great Billie Holiday was once asked to name her favorite singers, Scott was the only name she gave.

But the gift of that voice came with a price tag. Scott was a child/man in a undersized body. Early in his career he was dubbed Little Jimmy Scott. He could function sexually, but not reproduce.

The voice, brilliant as it was, seemed unmistakably female. Inevitably, gender confusion would result, and he met it with rage. The power of that voice was not just in its beauty, but in the sorrow that infused it.

On top of Kallmann's was layered an inordinate serving of heartache. Scott was only 14 when his mother died in a traffic accident, and he and his siblings were sent to different foster homes. Adult life was just as turbulent. There have been five marriages. There were alcohol issues.

The career never seemed quite commensurate with the talent. Back in the '40s, Scott landed a spot with the Lionel Hampton Orchestra and a recording deal with Savoy. He had a top 10 R&B hit with Hampton -- "Everybody's Somebody's Fool."

But the follow-up hits never came. There were management issues. He came home to Cleveland and worked as a shipping clerk, and an aide in a nursing home.

Perhaps staying in Cleveland had something to do with it.

"I never got the money recording-wise and without the money you couldn't live where you wanted," he said. "My real desire was to live in an area like California or somewhere. Healthwise it would have been better for me, also."

Then in his late 60s, fame beckoned from an unexpected quarter. Scott's brilliance was rediscovered at a funeral.

The great R&B songwriter Doc Pomus ("Save the Last Dance For Me," "Prisoner of Love," "Viva Las Vegas") was a good friend of Scott's. When Pomus died in 1991, Scott was asked to sing at the funeral. Pomus was well-respected in the business and it was a well- attended event. Lou Reed, for one, was wowed.

A guest shot on Reed's "Magic and Loss" and a recording gig with Warner's quickly followed. In recent years there have been some acclaimed recordings for the jazz specialty label Milestone.

The hot streak continues today. An entirely new generation has fallen for him. At 79, Scott is still on the road.

After all these years, he's savoring his twilight stardom.

"You waited so long to accomplish something out of the business. It's pretty exciting," he said. "I wish it would have come earlier, but it didn't, so you just patiently wait until opportunity comes.

"I have a slogan: You give out but you don't give up. Eventually something will happen."



Who: Jimmy Scott

When: 8 p.m. Saturday

Where: Alverno College's Pitman Theatre, 3431 S. 39th St.

How much: $28 and $24 general public, $25 and $21 seniors, $10 students, at the box office, (414) 382-6044


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
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