Disorders of sex chromosomes: Pathology review

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Disorders of sex chromosomes: Pathology review

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


Penile cancer


Benign prostatic hyperplasia

Prostate cancer


Inguinal hernia




Testicular torsion

Testicular cancer

Erectile dysfunction

Male hypoactive sexual desire disorder

Female reproductive system disorders


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



Endometrial hyperplasia

Endometrial cancer


Cervical cancer

Pelvic inflammatory disease


Female sexual interest and arousal disorder

Orgasmic dysfunction

Genito-pelvic pain and penetration disorder


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



Potter sequence

Intrauterine growth restriction

Preterm labor

Postpartum hemorrhage


Congenital toxoplasmosis

Congenital cytomegalovirus (NORD)

Congenital syphilis

Neonatal conjunctivitis

Neonatal herpes simplex

Congenital rubella syndrome

Neonatal sepsis

Neonatal meningitis


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


Disorders of sex chromosomes: Pathology review

USMLE® Step 1 questions

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USMLE® Step 1 style questions USMLE

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A 16-year-old girl presents to the family physician with concerns of delayed pubertal development. The patient has not yet had menarche and is concerned she is “falling behind” her classmates. According to her parent, the patient has been previously diagnosed with a chromosomal abnormality. Temperature is 37.7°C (99.9°F), pulse 110/min, and blood pressure 130/70 mm Hg. She is at the 5th percentile for height. Physical examination reveals a webbed neck, cubitus valgus, and mild lymphedema of the upper extremities. Which of the following best describes the hormonal imbalances associated with this patient’s condition?  


Content Reviewers

Antonella Melani, MD


Lahav Constantini

Abbey Richard, BFA

Noam, a 33 year old male, comes to the clinic after trying to conceive a baby with his wife for more than a year, with no luck. Noam is very thin and quite tall. Upon physical examination, you notice that his testes are smaller than normal, and he has enlarged breast tissue. In addition, Noam doesn’t seem to have much facial and pubic hair. You decide to run a blood test, which reveals that Noam’s testosterone and inhibin B levels are decreased, while gonadotropin and estrogen are increased. In addition, you perform a karyotype analysis on his cells and find 47 chromosomes, among which there’s two X chromosomes and one Y chromosome.

Next, you see Hadas, a 17 year old girl who’s worried because she hasn’t gotten her first menstrual period yet. The first thing you notice is that Hadas is quite short for her age. Upon physical examination, she has a webbed neck, a broad chest, and poorly developed breasts with widely spaced nipples. In addition, you notice her ring fingers are very short. A blood test shows low estrogen levels and high gonadotropins, and a karyotype analysis reveals only 45 chromosomes, with one X chromosome.

Okay, based on their presentation, both Hadas and Noam seem to have some sort of disorder of sex chromosomes. Now, humans typically have 23 pairs of chromosomes, so 46 total; out of which 22 pairs are autosomal, and 1 pair consists of sex choromosomes, which can be X or Y. Generally, an individual with two X chromosomes, or 46,XX is considered to be genetically female. However, only one X chromosome gets expressed and the other is inactivated through a process called X inactivation or lyonization, becoming a Barr body. On the other hand, an individual with one X and one Y chromosome, or 46,XY is genetically male. And since there’s only one X chromosome to begin with, there’s generally no Barr body.

Now, individuals with sex chromosome disorders have aneuploidy, meaning that there’s a missing or extra sex chromosome. Most often, this results from nondisjunction, which can occur in the egg or sperm cell during meiosis 1 or 2, where a chromosome pair or sister chromatid respectively doesn’t split apart. So the child of this individual could either receive two chromosomes from that parent and one more from the other parent, resulting in trisomy; or no chromosome from that parent and one from the other parent, resulting in monosomy. Less frequently, nondisjunction may occur during mitosis, where a sister chromatid doesn’t separate.


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  3. "Pathophysiology of Disease: An Introduction to Clinical Medicine 8E" McGraw-Hill Education / Medical (2018)
  4. "CURRENT Medical Diagnosis and Treatment 2020" McGraw-Hill Education / Medical (2019)
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