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1. Birth of a child whose genital appearance makes sex assignment difficult. What do you say to the parents?
A. Your baby has abnormal genitalia
B. Your baby has abnormal genitalia but don’t worry, a surgeon can fix it
C. I can’t tell if you have a boy or a girl, you choose
D. Oh no - your baby has a malformation, I don’t know what is wrong!
E. Congratulations you have a beautiful baby. Your baby has a variation in the appearance of its genitalia. I am going to arrange a few tests and link in with a team of experts who will help us work out the cause of the variation and support you through the process
2. Baby whose labioscrotal folds are fused, possibly pigmented. Clitoris/phallus measures 2x1 cm with chordee, urethra opens at base of phallus, no gonads palpable. Normal pregnancy, no meds, no FHx.
Most important feature on exam to determine Ix and gender assignment is:
A. Other dysmorphic features
B. Parental choice of pink or blue clothes
C. The presence of scrotal gonads
D. The degree of hypospadias
E. The degree of micropenis
3. 2 week old baby boy with poor feeding and lethargy. Breastfed, was feeding well until the past 24 hours. T 38, poorly perfused. Sent to hospital. Plasma glucose 3.8mmol/L, plasma Na 114 [134–143], plasma K 9.2 [3.4–5.0], Ur 12.2 [<6.0], Cr 86 [13-45], 17-hydroxyprogesterone >1000 [<20]. Most likely diagnosis?
A. Sepsis
B. Congenital adrenal hyperplasia
C. Inappropriate antidiuretic hormone (ADH) secretion
D. Posterior urethral valves
E. Urinary tract infection
4. 7yo with development of pubic hair over the last 12 months. Growth velocity has increased over the same time period. Previously well. >97th percentile for height, Tanner stage 3 genital development and Tanner stage 3 pubic hair. Testes 2ml bilaterally. Initial Ix: LH 1 [<12], FSH 2 [<12], testosterone 3.9 [<0.3], 17-hdroxyprogesterone 27 [<4], bone age 10 years. Most likely cause?
A. Adrenocortical tumour.
B. Benign premature adrenarche.
C. Central precocious puberty.
D. Congenital adrenal hyperplasia.
E. Craniopharyngioma.
5. Amniocentesis is performed for fetal chromosomal analysis. Karyotype of 46,XY. High resolution USS at 18 weeks gestation demonstrates normal female external genitalia. The most likely explanation?
A. 21-hydroxylase deficiency
B. Androgen insensitivity
C. Growth hormone deficiency
D. Hypogonadotrophic hypogonadism
E. Maternal contamination of the chromosomal sample
6. 14yo girl with primary amenorrhoea. 75th centile for height, 50th centile for weight. Stage 1 pubic hair, stage 4 breast development. Normal female external genitalia. USS reveals gonads in the inguinal canal and no uterus. Blood tests: 46XY karyotype, oestrogen low for female range, FSH and LH normal-high, testosterone high for female range. Most likely diagnosis?
A. Gonadal failure
B. Mosaic Turner syndrome
C. Ovotesticular DSD
D. Complete AIS
7. TRUE/FALSE - disorders of sex differentiation.
A. Born with normal appearing male external genitalia but with testes not palpable bilaterally. The definitive diagnosis will be bilateral undescended testes.
7. TRUE/FALSE - disorders of sex differentiation.
B. Hyperpigmentation of the skin may be a pointer to congenital adrenal hyperplasia.
7. TRUE/FALSE - disorders of sex differentiation.
C. An abdominal ultrasound is a useful test in babies with disorders of sex differentiation.
7. TRUE/FALSE - disorders of sex differentiation.
D. A baby is born with what appears to be incompletely virilised male external genitalia (phallus length 1.3 cm, perineal hypospadias). The karyotype on testing is XY. The baby should be designated to a male sex in view of the male karyotype.
7. TRUE/FALSE - disorders of sex differentiation.
E. In cases of disordered sex differentiation, all attempts should be made to assign a sex to the baby based on phenotypic appearance while awaiting test results in order to reduce parental anxiety.
7. TRUE/FALSE - disorders of sex differentiation.
F. A family history is very important in reaching a correct diagnosis in disorders of sex differentiation.
