Paediatric-History taking & Physical examination of a patient with disorder of sexual development

Paediatric-History taking & Physical examination of a patient with disorder of sexual developmentCreated OnApril 29, 2020Last Updated OnApril 29, 2020byadmin You are here: Main Clinical Examination Paediatric-History taking & Physical examination of a patient with disorder of sexual development < All Topics Table of Contents History taking: Ask about history of maternal virilisation: hirsutism, deepening of voice, acne, amenorrhea, infertility, clitoromegaly Ask about antenatal history: Parental consanguinity? Drugs taken during pregnancy (eg. Spironolactone, cimetidine, hydantoin, progestin) → can affect fetal genital development Endocrine disturbances Ingestion of recreational drugs or alcohol during pregnancy Ask about obstetric history: Previous abortions, stillbirths, unexplained neonatal deaths Ask about family history: Unexplained neonatal deaths in siblings and close relatives Infertility, genital abnormalities in the family Abnormal pubertal development Symptoms in infants Poor feeding Decreased activity/ unresponsiveness Dry mucous membrane Hyperpigmentation Vomiting Dehydration – reduced urine output Physical examination: General examination Vital signs: pulse, BP, temperature, respiratory rate Hypo- or hypertension in CAH Turner’s stigmata: webbed neck, low hairline, edema of hands and feets, shield chest with widely spaced nipples Hyperpigmentation – seen in CAH Signs of dehydration: tachycardia, thready pulse, sunken fontanelle, dry mucous membrane, reduced skin turgor – CAH External genitalia examination Hyperpigmentation of genitals – CAH Palpate groin and scrotal/labial folds to determine presence of gonads – size, consistency, position If bilateral gonads in labial folds → undermasculinized male If unilateral palpable gonad → mixed gonad dysgenesis or ovotesticular DSD Phallic stretch length (from pubic ramus to tip of glans); middle shaft diameter (normal ~ 1cm) Penile length is measure with penis fully stretched (not flaccid) Measure from pubic ramus to distal tip of glans penis Suprapubic fat pad should be pressed inwards, foreskin should be retracted Position of urethral meatus – look for hypospadias or chordee Clitoris – truly enlarged if presence of palpable corporal or erectile tissue Degree of fusion of labioscotal folds Prader stage – to describe virilisation of female Stage 1: clitoromegaly w/o labial fusion Stage 2: clitoromegaly with posterior labial fusion Grade 3: greater degree of clitoromegaly, single perineal urogenital orifice, and complete labial fusion Stage 4: increasingly phallic clitoris, urethra-like urogenital sinus at base of clitoris, complete labial fusion Stage 5: penile clitoris, urethral meatus at tip of phallus, scrotum like labia External masculinization score – to describe undervirilization of male Score of 0 – 3 given for 4 aspect; normal sum of all values is 12 Microphallus: Penile length below the male reference range. L/S, labioscrotal; Ing, inguinal; Abd, abdominal; Abs, absent on examination Cloacal anomaly Check for position and patency of anus Cardiovascular Cardiovascular complications common in Turner’s syndrome ** also inspect for virilized appearance of...

Continue reading

Please Login/Register to read full article.