Síndrome de Kallmann

Descripción General

Epidemiología

• Incidencia: hombres >> mujeres (4:1):
  • Hombres: 1 de cada 30 000
  • Mujeres: 1 de cada 120 000

Genética

• Se han identificado más de 25 genes Genes A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. DNA Types and Structure asociados al AL Amyloidosis desarrollo del síndrome de Kallmann:
  • Los LOS Neisseria genes Genes A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. DNA Types and Structure más comúnmente afectados son ANOS1, FGFR1, FGF8, CHD7, PROK2 y PROKR2.
  • Sólo en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el 30% de los LOS Neisseria casos las pruebas genéticas revelan una mutación en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum uno de los LOS Neisseria genes Genes A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. DNA Types and Structure conocidos.
• El patrón de herencia y la penetración son variables:
  • Depende de la mutación genética implicada
  • Puede ser recesivo ligado al AL Amyloidosis X, autosómico dominante o autosómico recesivo
  • 10%–14% de los LOS Neisseria casos se debe a una mutación en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum ANOS1:
    • Herencia recesiva ligada al AL Amyloidosis cromosoma X
    • La forma más grave de síndrome de Kallmann

Fisiopatología

Los LOS Neisseria genes Genes A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. DNA Types and Structure mencionados anteriormente están implicados en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la migración de las neuronas olfativas y de las neuronas implicadas en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la producción de la hormona liberadora de gonadotropina (GnRH, por sus siglas en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum inglés) a su lugar funcional adecuado en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el cerebro durante el desarrollo.

• La migración de las neuronas olfativas al AL Amyloidosis bulbo olfativo es necesaria para el sentido del olfato.
• La migración de las neuronas de la GnRH al AL Amyloidosis hipotálamo es necesaria para la correcta liberación de la hormona:
  • La GnRH controla la producción de las hormonas sexuales necesarias para el desarrollo sexual.
  • Esencial para el funcionamiento normal de los LOS Neisseria testículos y los LOS Neisseria ovarios
• Mutaciones en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum los LOS Neisseria genes Genes A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. DNA Types and Structure mencionados anteriormente → migración defectuosa de las neuronas liberadoras de GnRH y de las neuronas olfativas → ↓ síntesis de GnRH en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el hipotálamo y fallo en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el desarrollo del bulbo olfativo → ↓ producción de hormonas sexuales e hiposmia o anosmia Anosmia Complete or severe loss of the subjective sense of smell. Loss of smell may be caused by many factors such as a cold, allergy, olfactory nerve diseases, viral respiratory tract infections (e.g., COVID-19), aging and various neurological disorders (e.g., Alzheimer disease). Cranial Nerve Palsies (disminución/ausencia del sentido del olfato).

Presentación Clínica

La presentación clínica es muy variable debido a las diferentes mutaciones genéticas y niveles de penetración. Sin embargo, todos los individuos con síndrome de Kallmann muestran un desarrollo sexual anormal e hiposmia o anosmia Anosmia Complete or severe loss of the subjective sense of smell. Loss of smell may be caused by many factors such as a cold, allergy, olfactory nerve diseases, viral respiratory tract infections (e.g., COVID-19), aging and various neurological disorders (e.g., Alzheimer disease). Cranial Nerve Palsies.

Desarrollo sexual y fertilidad

• Retraso o ausencia del inicio del desarrollo y la maduración sexual
• Falta de crecimiento puberal
• Infertilidad
• Disminución de la libido
• Pacientes masculinos: testículos pequeños o no descendidos, micropene, ausencia de crecimiento del vello facial y corporal, y ausencia de profundización de la voz en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la pubertad
• Pacientes femeninas: ausencia de desarrollo mamario, ausencia de vello axilar y amenorrea primaria
• El vello púbico puede ser normal en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum ambos sexos porque el vello púbico está controlado por los LOS Neisseria andrógenos de la glándula suprarrenal.

Otras anomalías congénitas

• Hiposmia o anosmia Anosmia Complete or severe loss of the subjective sense of smell. Loss of smell may be caused by many factors such as a cold, allergy, olfactory nerve diseases, viral respiratory tract infections (e.g., COVID-19), aging and various neurological disorders (e.g., Alzheimer disease). Cranial Nerve Palsies (disminución o ausencia del sentido del olfato)
• Labio y/o paladar hendido
• Pérdida de la audición
• Sindactilia (fusión de los LOS Neisseria dedos de los LOS Neisseria pies y de las manos)
• Agenesia renal unilateral (falta de riñón)
• Agenesia dental
• Sincinesis bimanual (la mano contralateral refleja involuntariamente el movimiento de la otra)

Condiciones asociadas

• Trastornos del sueño
• Trastornos alimenticios
• Osteoporosis Osteoporosis Osteoporosis refers to a decrease in bone mass and density leading to an increased number of fractures. There are 2 forms of osteoporosis: primary, which is commonly postmenopausal or senile; and secondary, which is a manifestation of immobilization, underlying medical disorders, or long-term use of certain medications. Osteoporosis en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la edad adulta

Diagnóstico

• Historia clínica y examen físico
• Laboratorios (suero):
  • ↓ Niveles de GnRH
  • ↓ Niveles de la hormona foliculoestimulante ( FSH FSH A major gonadotropin secreted by the adenohypophysis. Follicle-stimulating hormone stimulates gametogenesis and the supporting cells such as the ovarian granulosa cells, the testicular sertoli cells, and leydig cells. Fsh consists of two noncovalently linked subunits, alpha and beta. Within a species, the alpha subunit is common in the three pituitary glycoprotein hormones (TSH, LH, and FSH), but the beta subunit is unique and confers its biological specificity. Menstrual Cycle, por sus siglas en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum inglés) y de la hormona luteinizante ( LH LH A major gonadotropin secreted by the adenohypophysis. Luteinizing hormone regulates steroid production by the interstitial cells of the testis and the ovary. The preovulatory luteinizing hormone surge in females induces ovulation, and subsequent luteinization of the follicle. Luteinizing hormone consists of two noncovalently linked subunits, alpha and beta. Within a species, the alpha subunit is common in the three pituitary glycoprotein hormones (TSH, LH, and FSH), but the beta subunit is unique and confers its biological specificity. Menstrual Cycle, por sus siglas en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum inglés)
  • ↓ Niveles de testosterona en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum los LOS Neisseria hombres
  • ↓ Niveles de estradiol Estradiol The 17-beta-isomer of estradiol, an aromatized C18 steroid with hydroxyl group at 3-beta- and 17-beta-position. Estradiol-17-beta is the most potent form of mammalian estrogenic steroids. Noncontraceptive Estrogen and Progestins en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum las mujeres
• Pruebas genéticas de los LOS Neisseria genes Genes A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. DNA Types and Structure conocidos
• Imagenología: La resonancia magnética (RM) cerebral muestra un hipotálamo y una hipófisis normales, pero la ausencia de un bulbo olfatorio.

Tratamiento

• Terapia de reemplazo hormonal:
  • Se necesita para iniciar el desarrollo sexual en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la pubertad y se requiere un mantenimiento de por vida para la mayoría
  • Hombres: testosterona por vía intramuscular o tópica:
    • La testosterona oral debe evitarse debido a la posible hepatotoxicidad.
    • Aproximadamente el 10% de los LOS Neisseria hombres pueden llegar a suspender la terapia y tener una función gonadal adecuada.
  • Mujeres: terapia de estrógenos inicialmente, con adición posterior de progestina para prevenir la hiperplasia endometrial
  • Tratamiento de fertilidad si se desea
• Gammagrafía ósea para detectar signos de osteoporosis Osteoporosis Osteoporosis refers to a decrease in bone mass and density leading to an increased number of fractures. There are 2 forms of osteoporosis: primary, which is commonly postmenopausal or senile; and secondary, which is a manifestation of immobilization, underlying medical disorders, or long-term use of certain medications. Osteoporosis
• Ecografía renal o tomografía computarizada (TC) para evaluar las anomalías renales
• Examen auditivo para detectar la pérdida de audición

Diagnóstico Diferencial

• Hipogonadismo hipogonadotrópico normósmico: afección genética que causa hipogonadismo hipogonadotrópico debido a una deficiencia aislada de GnRH. Afecta a hombres y mujeres. La pubertad se retrasa en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum ambos sexos debido a la falta de hormonas sexuales. A diferencia del síndrome de Kallmann, los LOS Neisseria pacientes con hipogonadismo hipogonadotrópico normósmico tienen un sentido del olfato normal y las anomalías no reproductivas suelen estar ausentes. Las pruebas genéticas confirman el diagnóstico. El tratamiento consiste en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum una terapia de sustitución hormonal.
• Síndrome de Klinefelter: aneuploidía cromosómica caracterizada por la presencia de 1 o más cromosomas X adicionales en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum un cariotipo masculino (47, XXY XXY Klinefelter syndrome is a chromosomal aneuploidy characterized by the presence of 1 or more extra X chromosomes in a male karyotype, most commonly leading to karyotype 47,XXY. Klinefelter syndrome is associated with decreased levels of testosterone and is the most common cause of congenital hypogonadism. Klinefelter Syndrome). El síndrome de Klinefelter se asocia al AL Amyloidosis hipogonadismo hipergonadotrópico y es la causa más común de hipogonadismo congénito. Los LOS Neisseria individuos se presentan como hombres altos y fenotípicos, con testículos pequeños, disminución del vello corporal, ginecomastia e infertilidad. Los LOS Neisseria niveles de la hormona luteinizante ( LH LH A major gonadotropin secreted by the adenohypophysis. Luteinizing hormone regulates steroid production by the interstitial cells of the testis and the ovary. The preovulatory luteinizing hormone surge in females induces ovulation, and subsequent luteinization of the follicle. Luteinizing hormone consists of two noncovalently linked subunits, alpha and beta. Within a species, the alpha subunit is common in the three pituitary glycoprotein hormones (TSH, LH, and FSH), but the beta subunit is unique and confers its biological specificity. Menstrual Cycle) y la FSH FSH A major gonadotropin secreted by the adenohypophysis. Follicle-stimulating hormone stimulates gametogenesis and the supporting cells such as the ovarian granulosa cells, the testicular sertoli cells, and leydig cells. Fsh consists of two noncovalently linked subunits, alpha and beta. Within a species, the alpha subunit is common in the three pituitary glycoprotein hormones (TSH, LH, and FSH), but the beta subunit is unique and confers its biological specificity. Menstrual Cycle son elevados en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el síndrome de Klinefelter. Las pruebas genéticas confirman el diagnóstico. El tratamiento consiste en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum una terapia de reemplazo de testosterona de por vida.
• Síndrome de Prader-Willi: afección genética debida a la pérdida idiopática de la función de ciertos genes Genes A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. DNA Types and Structure. Se observa hipogonadismo y retraso de la pubertad. Los LOS Neisseria individuos presentan hipotonía y dificultades de alimentación cuando son neonatos y sobrealimentación crónica y obesidad en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la infancia. Las personas con síndrome de Prader-Willi también pueden tener discapacidades cognitivas. El olfato no se ve VE Ventilation: Mechanics of Breathing afectado. Las pruebas genéticas ayudan al AL Amyloidosis diagnóstico. El reemplazo hormonal es una parte de la gestión, pero también existen otros tratamientos basados en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum los LOS Neisseria síntomas.
• Retraso constitucional del crecimiento y la pubertad: no es un trastorno sino una variante del crecimiento normal. El retraso constitucional del crecimiento y de la pubertad es la causa más común del retraso de la pubertad y de la baja estatura. Tanto la función suprarrenal como la función gonadal están retrasadas, lo que suele provocar la ausencia de vello púbico. El desarrollo físico de los LOS Neisseria individuos con CDGP suele ponerse al AL Amyloidosis día en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum años posteriores.