Klinefelter syndrome

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Klinefelter syndrome

Reproductive system

Male and female reproductive system disorders

Precocious puberty

Delayed puberty

Klinefelter syndrome

Turner syndrome

Androgen insensitivity syndrome

5-alpha-reductase deficiency

Kallmann syndrome

Male reproductive system disorders

Hypospadias and epispadias

Bladder exstrophy

Priapism

Penile cancer

Prostatitis

Benign prostatic hyperplasia

Prostate cancer

Cryptorchidism

Inguinal hernia

Varicocele

Epididymitis

Orchitis

Testicular torsion

Testicular cancer

Erectile dysfunction

Male hypoactive sexual desire disorder

Female reproductive system disorders

Amenorrhea

Ovarian cyst

Premature ovarian failure

Polycystic ovary syndrome

Ovarian torsion

Krukenberg tumor

Sex cord-gonadal stromal tumor

Surface epithelial-stromal tumor

Germ cell ovarian tumor

Uterine fibroid

Endometriosis

Endometritis

Endometrial hyperplasia

Endometrial cancer

Choriocarcinoma

Cervical cancer

Pelvic inflammatory disease

Urethritis

Female sexual interest and arousal disorder

Orgasmic dysfunction

Genito-pelvic pain and penetration disorder

Mastitis

Fibrocystic breast changes

Intraductal papilloma

Phyllodes tumor

Paget disease of the breast

Breast cancer

Hyperemesis gravidarum

Gestational hypertension

Preeclampsia & eclampsia

Gestational diabetes

Cervical incompetence

Placenta previa

Placenta accreta

Placental abruption

Oligohydramnios

Polyhydramnios

Potter sequence

Intrauterine growth restriction

Preterm labor

Postpartum hemorrhage

Chorioamnionitis

Congenital toxoplasmosis

Congenital cytomegalovirus (NORD)

Congenital syphilis

Neonatal conjunctivitis

Neonatal herpes simplex

Congenital rubella syndrome

Neonatal sepsis

Neonatal meningitis

Miscarriage

Gestational trophoblastic disease

Ectopic pregnancy

Fetal hydantoin syndrome

Fetal alcohol syndrome

Reproductive system pathology review

Disorders of sex chromosomes: Pathology review

Prostate disorders and cancer: Pathology review

Testicular tumors: Pathology review

Uterine disorders: Pathology review

Ovarian cysts and tumors: Pathology review

Cervical cancer: Pathology review

Vaginal and vulvar disorders: Pathology review

Benign breast conditions: Pathology review

Breast cancer: Pathology review

Complications during pregnancy: Pathology review

Congenital TORCH infections: Pathology review

Disorders of sexual development and sex hormones: Pathology review

Amenorrhea: Pathology Review

Testicular and scrotal conditions: Pathology review

Sexually transmitted infections: Warts and ulcers: Pathology review

Sexually transmitted infections: Vaginitis and cervicitis: Pathology review

HIV and AIDS: Pathology review

Penile conditions: Pathology review

Assessments

Klinefelter syndrome

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Klinefelter syndrome

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External References

First Aid

2022

2021

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2016

Estrogen p. 654, 680

Klinefelter syndrome p. 661

Follicle-stimulating hormone (FSH)

Klinefelter syndrome p. 661

Gynecomastia p. 673

Klinefelter syndrome p. 661

Hypogonadism

Klinefelter syndrome p. 661

Infertility

Klinefelter syndrome p. 661

Inhibin

Klinefelter syndrome p. 661

Klinefelter syndrome p. 661

chromosome association p. 62

gynecomastia p. 673

testicular tumors p. 676

Luteinizing hormone (LH)

Klinefelter syndrome p. 661

Testosterone p. 652, 682

Klinefelter syndrome p. 661

Transcript

Content Reviewers

Rishi Desai, MD, MPH

Contributors

Tanner Marshall, MS

Klinefelter syndrome, named after Dr. Harry Klinefelter who first identified it, is a chromosomal problem where a person with an XY genotype - biologically a male - inherits at least one extra X-chromosome, and sometimes a few extra ones.

Having an extra X chromosome makes the testicular cells generate less testosterone, which is the hormone responsible for primary sex characteristics like development of the sex organs as well as secondary sex characteristics like height and body shape.

It’s worth mentioning up front, that we’re using the term male here, rather than boy or man, to talk about the biological category of a person’s sex rather than a person’s gender identity.

Now, in puberty, in both males and females, the hypothalamus starts to release more gonadotropin releasing hormone, which gets the pituitary gland to release luteinizing hormone and follicle-stimulating hormone.

In males, these hormones affect the Leydig cells and the Sertoli cells.

The Leydig cells are in the interstitium of the testes, and in response to luteinizing hormone they convert cholesterol into testosterone.

The testosterone along with follicle-stimulating hormone, then stimulate Sertoli cells in the seminiferous tubules of the testes to make more sperm.

To main balance or homeostasis, testosterone reduces gonadotropin releasing hormone and luteinizing hormone, and Sertoli cells release the hormone inhibin which inhibits release of follicle-stimulating hormone.

In Klinefelter syndrome, this hormone balance is altered.

The extra X-chromosome interrupts the normal function of the Sertoli and Leydig cells.

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