2025 – PAGE 86 – ENDOCRINOLOGY

MULLERIAN INHIBITOR HORMONE DEFICIENCY (AKA MIH RECEPTOR DEFECT)

A child with Mullerian Inhibitor Hormone deficiency (MIH receptor defect) is born with normal testes/penis (androgens work), but also a rudimentary uterus and fallopian tubes. The uterus and fallopian tubes did not regress because of the lack of MIH, or the lack of working MIH receptors. This child’s karyotype will reveal an X and a Y.

MALE PSEUDOHERMAPHRODITISM

MALE PSEUDOHERMAPHRODITISM = INCOMPLETE MASCULINIZATION: Occurs in someone with an XY karyotype who has inadequate androgen production during critical stages of fetal development. A patient’s genitalia look AMBIGUOUS or like those of a FEMALE, and this can be referred to as INCOMPLETE MASCULINIZATION.

PEARL: The word MALE should key you in on the fact that this patient is XY (in case they present this in a matching section).

TRUE HERMAPHRODITISM

True hermaphroditism refers to a patient with BOTH testicular and ovarian tissue. The condition is rare. If you see this as an answer choice, it’s probably a decoy.

(DOUBLE TAKE) TURNER SYNDROME (AKA TURNERS)

Turner Syndrome (AKA Turners) has a high association with bicuspid aortic valve (most common) and aortic coarctation. Look for a WEBBED NECK (also called CYSTIC HYGROMA). The patient may have a history of having only breast buds, but they do NOT have breasts. There may be short stature, pedal edema, wide spaced nipples, and short 4th and 5th metacarpals, and may have either scant or no pubic hair. Primary amenorrhea occurs because of streak ovaries and ovarian failure. They DO have a uterus. High FSH always means ovarian failure (top two reasons are Turners and autoimmune ovarian failure) = HYPERGONADOTROPIC HYPOGONADISM. The patient may also have renal anomalies including a possible HORSESHOE kidney. Diagnose by karyotype.

IMAGE: www.pbrlinks.com/TURNER1

IMAGE: www.pbrlinks.com/TURNER2

IMAGE: www.pbrlinks.com/TURNER3

MNEMONIC: Association between XO and coarctation of the Aorta: “XO kind of looks like AO (abbreviation for aorta), doesn’t it?”

MNEMONIC: Coarctation of the Aorta and Horseshoe Kidney = In case you didn’t know, Tina TURNER was married to a man who was reportedly abusive. His name was Ike. Now imagine Tina TURNER’S hand thrusting through Ike’s chest and squeezing his AO. He TURNS and hits her in the head with a HORSESHOE!” KEY: Squeezing his AO = Coarctation of the Aorta. Horseshoe trauma = Horseshoe Kidney.

MNEMONIC IMAGE: www.pbrlinks.com/TURNER4