Endocrinology Book

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Kallmann's Syndrome

Aka: Kallmann's Syndrome, Fertile Eunuch Syndrome
  1. Epidemiology: Prevalence
    1. Males: 1 in 7500
    2. Females: 1 in 50,000
  2. Pathophysiology
    1. Secondary to LHRH deficiency (GnRH deficiency)
    2. Results in isolated Hypogonadotropic Hypogonadism
      1. Kallmann's Syndrome is most common cause
    3. Partial LHRH deficiency results in fertile eunuch
  3. Signs
    1. Anosmia or Hyposmia
    2. Delayed Puberty
    3. Small Testes (size correlates with LHRH deficiency)
    4. Micropenis (50% of cases)
    5. Other findings seen in Hypogonadotropic Hypogonadism
      1. Gynecomastia
      2. Undescended Testes (Cryptorchidism)
  4. Associated Conditions (loosely correlated)
    1. Cleft Lip and Palate
    2. Seizure disorder
    3. Short Metacarpals
    4. Pes cavus
    5. Sensorineural Hearing Loss
    6. Cerebellar Ataxia
  5. References
    1. Wilson (1998) Williams Endocrinology, p. 1555-6

Kallmann Syndrome (C0162809)

Definition (MSHCZE) Syndrom charakterizovaný anosmií a deficitem gonadotropinů s nedostatečným vývojem pohlavních žláz (hypogonadotropní hypogonadismus). Dále může být hluchota, rozštěpové vady, barvoslepost, mentální retardace aj. Dědičnost bývá obvykle autozomálně dominantní. Porušena je tvorba a migrace neuronů tvořících GnRH spolu s agenezí olfaktorického bulbu. (cit. Velký lékařský slovník online, 2012 http://lekarske.slovniky.cz/ )
Definition (NCI) An X-linked or autosomal dominant genetic syndrome characterized by hypogonadotropic hypogonadism and anosmia.
Definition (CSP) anosmia due to failure of the olfactory lobes to develop, with secondary hypogonadism due to gonadotropic hormone deficiency.
Definition (MSH) A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.
Concepts Disease or Syndrome (T047)
MSH D017436
ICD10 E23.0
SnomedCT 190559001, 93559003, 33927004
English Syndrome, Kallmann's, Kallmann's Syndrome, Kallmanns Syndrome, Syndrome, Kallmann, Gonadotrophin defic + anosmia, de Morsier's syndrome, Kallmann Syndrome, familial hypogonadism with anosmia, Kallmann Syndrome [Disease/Finding], kallmans syndrome, de morsier syndrome, kallman's syndrome, kallmann syndrome, kallman syndrome, kallmanns syndrome, Anosmic Hypogonadism, Hypogonadism, Anosmic, Hypogonadisms, Anosmic, Dysplasia Olfactogenitalis of De Morsier, Anosmic Hypogonadisms, Olfacto genital dysplasia, de Morsier-Kallman's syndrome, Hypogonadotropic Hypogonadism-Anosmia Syndrome, Anosmic Idiopathic Hypogonadotropic Hypogonadism, Hypogonadotropic Hypogonadism and Anosmia, Kallmann syndrome, Kallmann syndrome (diagnosis), Kallmann's syndrome, Anosmia eunuchoidism, Dysplasia olfactogenitalis of de Morsier, Kallman syndrome, Kallman's syndrome, Olfactogenital dysplasia, Gonadotrophin deficiency with anosmia, Hypogonadism with anosmia, Hypogonadism with anosmia (disorder), kallmann's syndrome
Italian Displasia olfatto-genitale, Sindrome di de Morsier-Kallman, Sindrome di Kallman, Sindrome di de Morsier, Sindrome di Kallmann
Dutch syndroom van Kallmann, de Morsier-Kallman-syndroom, de Morsier-syndroom, Kallmann-syndroom, Syndroom, Kallmann-
French Syndrome de De Morsier-Kallman, Syndrome de De Morsier, Dysplasie olfactogénitale, Dysplasie olfacto-génitale de De Morsier, Dysplasie olfacto-génitale de Kallmann-De Morsier, Dysplasie olfactogénitale de De Morsier, Dysplasie olfactogénitale de Kallmann-De Morsier, Syndrome de Kallmann, Syndrome de De Morsier-Kallmann, Syndrome de Kallman-De Morsier
German De-Morsier-Kallmann-Syndrom, De-Morsier-Syndrom, Olfaktogenitale Dysplasie, Kallmann-Syndrom
Portuguese Síndrome de De Morsier-Kallman, Síndrome de Kallman, Síndrome de De Morsier, Displasia olfacto-genital, Síndrome de Kallmann
Spanish Síndrome de Kallman, Síndrome de Morsier-Kallman, Síndrome de Morsier, anosmia eunicoide, displasia olfatogenital de Morsier, displasia olfatogenital, hipogonadismo con anosmia (trastorno), hipogonadismo con anosmia, síndrome de Kallman, Displasia olfato genital, Síndrome de Kallmann
Japanese 嗅脳性器異形成, ド・モルシア・カルマン症候群, ドモルシアカルマンショウコウグン, ドモルシアショウコウグン, ド・モルシア症候群, キュウノウセイキイケイセイ, カルマンショウコウグン, Kallmann症候群, カルマン症候群
Swedish Kallmanns syndrom
Czech Kallmannův syndrom, Olfaktogenitální dysplazie, de Morsier-Kallmanův syndrom, de Morsierův syndrom, Kallmanův syndrom, olfaktogenitální syndrom, hypogonadismus s anosmií
Finnish Kallmannin oireyhtymä
Russian KALLMENA SINDROM, КАЛЛМЕНА СИНДРОМ
Polish Zespół węchowo-płciowy, Zespół Kallmanna
Hungarian Kallman-syndroma, De morsier-kallman-syndroma, Olfactogenitalis dysplasia, Kallmann-syndroma, De morsier-syndroma
Norwegian Kallmanns syndrom, Hypogonadotropisk eunukoidisme
Sources
Derived from the NIH UMLS (Unified Medical Language System)


Isolated lutropin deficiency (disorder) (C0271582)

Concepts Disease or Syndrome (T047)
MSH C537919
ICD10 E23.0
SnomedCT 8829008
English FERTILE EUNUCH SYNDROME, Isolated lutropin deficiency (disorder), Fertile eunuch syndrome, Fertile eunuch, Isolated lutropin deficiency, fertile eunuch syndrome, fertile eunuch; syndrome, syndrome; fertile eunuch
Dutch fertiel eunuchoïdisme; syndroom, syndroom; fertiel eunuchoïdisme
Spanish deficiencia aislada de LH, deficiencia aislada de lutropina (trastorno), deficiencia aislada de lutropina, síndrome del eunuco fértil
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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