USMLE Step 2 CK Lecture Notes 2019: Obstetrics/Gynecology (Kaplan Test Prep)

GYN TRIAD

Kallmann    Syndrome

Clinical Approach—Based on Findings Regarding Breasts and Uterus

Primary amenorrhea

(–) breasts but (+) uterus

Anosmia

Breasts present,    uterus  present.    Differential    diagnosis   includes    an

imperforate hymen,  vaginal septum, anorexia    nervosa,    excessive   exercise,   and

possible    pregnancy   before  first   menses.

History and physical    examination will    identify    the majority    of  specific

diagnoses.

Otherwise   the workup  should  proceed as  if  for secondary   amenorrhea.

Breasts present,    uterus  absent. Differential    diagnosis   is  Müllerian   agenesis

(Mayer-Rokitansky-Kuster-Hauser syndrome)   and complete    androgen

insensitivity   (testicular feminization).  Testosterone    levels  and karyotype   help

make    the diagnosis.

Müllerian   agenesis.   These   are genetically normal  females (46,XX) with

idiopathic  absence of  the Müllerian   duct    derivatives:    fallopian   tubes,

uterus, cervix, and upper   vagina; the lower   vagina  originates  from    the

urogenital  sinus.

Patients    develop secondary   sexual  characteristics because ovarian

function    is  intact; Müllerian   ducts   do  not give    rise    to  the ovaries.

Normal  pubic   and axillary    hair    is  present.    Testosterone    levels  are normal

female.

Management. Surgical    elongation  of  the vagina  for satisfactory    sexual