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Diagnoses of Reproductive Syndromes & Deficiencies

by Carlo Raj, MD
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    In this section, we’ll take a look at reproductive pathology differential diagnoses. You have just been waiting to get to this section so that you’re able to identify your patients. So without further ado, let’s begin. Differential diagnoses. Well, these are common conditions that students doctors, residents, anyone in the medical field wishes to make sure that they have firmly implanted in their head. Let’s begin. The conditions include Turner syndrome. Quickly think to yourself as to what may then your patient look like. She has webbing of the neck. She came in with primary amenorrhea or maybe the mother brought her in with primary amenorrhea at the age of 16 or lack of menses. She might have increased blood pressure in upper extremity and lower blood pressure in the lower extremity, coarctation of aorta. Maybe she has a crescendo-decrescendo type of systolic murmur that is heard best at the second right intercostal space, aortic stenosis. Turner, YY male, XYY. More common than one would think. 1 in 1000. Look for a patient who might be in the armed forces, maybe marine. Meaning to say, these individuals are highly recruited by the armed forces because they have an extra Y chromosome which then provides them with interesting characteristics. I’m being stereotypical here but on purpose, so that you’d be able to quickly identify your patient. Remember placental aromatase deficiency. Remember what aromatase does? It takes the testosterone and converts it into your estrogen. What may then happen if fetus is not able to properly do that? Then 5?-reductase deficiency. These are enzyme deficiencies that once again people get confused with but you no longer will. Kallmann syndrome, in Kallmann syndrome, you begin way up in the hypothalamus in which with your gonadotropic access, you don’t have enough GnRH. What else...

    About the Lecture

    The lecture Diagnoses of Reproductive Syndromes & Deficiencies by Carlo Raj, MD is from the course Reproductive Hormone Disorders.


    Included Quiz Questions

    1. Hypogonadotropic hypogonadism
    2. Cyctic hygroma
    3. Gonadal streaks
    4. Coarctation of the aorta
    5. Mosaic 46 XX/ 45 XO
    1. Autosomal recessive
    2. XYY
    3. Tall
    4. Aggressive
    5. Seen in 1:1000
    1. 5 alpha reductase deficiency --- high DHT
    2. Kallman syndrome --- anosmia
    3. Kallman syndrome --- hypogonadotropic hypogonadism
    4. 5 alpha reductase deficiency --- autosomal Recessive
    5. Placental Aromatase deficiency --- low estrogen levels
    1. 5 alpha reductase deficiency --- low testosterone
    2. Turner syndrome --- short stature
    3. Doubly Y male --- non-disjunction event
    4. Placental aromatase deficiency --- Female XX
    5. Kallman syndrome --- delayed puberty
    1. Placental aromatase deficiency
    2. Kallman syndrome
    3. Turner syndrome
    4. 5 alpha reductase deficiency
    5. Hypogonadotropic hypogonadism
    1. Turner syndrome --- tricuspid aortic valve
    2. Turner syndrome --- horseshoe kidney
    3. Doubly Y male --- Autism
    4. Kallman syndrome --- infertility
    5. 5 alpha reductase deficiency --- Masculinization
    1. Turner syndrome infertility
    2. Masculinization
    3. Autism in doubly Y male
    4. 5 alpha reductase deficiency
    5. Lymphedema in Turner syndrome

    Author of lecture Diagnoses of Reproductive Syndromes & Deficiencies

     Carlo Raj, MD

    Carlo Raj, MD


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