14551260
Description
Flashcards by Averil Tam, updated more than 1 year ago
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Created by Averil Tam
over 5 years ago
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| Question | Answer |
| 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 | E |
| 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 | C. A palpable gonad is a testis until proven otherwise. If there is no gonad palpable, the baby may be a virilised female. |
| 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 | B. Presentation can mimic sepsis, UTI, posterior urethral valves but covering with hydrocortisone can be life saving. Countries with CAH newborn screening avoid this presentation. |
| 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. | D. CAH can present at any age. Children with exaggerated adrenarche and accelerated bone age should be tested for CAH. Prepubertal testicular volume makes central precocious puberty unlikely. |
| 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 | B. The baby has 46XY karyotype and a lack of androgen effects. 21-OH deficiency would cause CAH and not result in lack of androgen action in a 46XY baby. Hypopituitarism causing hypogonadotrophic hypogonadism and/or growth hormone deficiency could result in an undervirilised male but would not cause normal female external genitalia. Maternal cell contamination occurs when maternal 46XX material is found in a 46XX foetal karyotype. |
| 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 | D. 46XY karyotype, gonads producing testosterone but no androgen effects. Testosterone is aromatised to oestrogen, resulting in breast development. 46XY karyotype and lack of a uterus makes Turner Syndrome unlikely. The normal testosterone level makes gonadal failure and ovotesticular DSD unlikely. |
| 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. | False. In this case other possibilities (such as congenital adrenal hyperplasia with complete virilisation of female external genitalia) must be considered. An ultrasound to identify internal genito urinary structures and a karyotype are useful initial guides to a correct diagnosis. |
| 7. TRUE/FALSE - disorders of sex differentiation. B. Hyperpigmentation of the skin may be a pointer to congenital adrenal hyperplasia. | True. Hyperpigmentation (typically marked around the external genitalia, breast areola and axilla or groin or on sun exposed areas in older children), should alert one to the possibility of congenital adrenal hyperplasia. However hyperpigmentation may be hard to identify in dark skinned individuals who normally tend to have deeper pigmentation around the above areas. |
| 7. TRUE/FALSE - disorders of sex differentiation. C. An abdominal ultrasound is a useful test in babies with disorders of sex differentiation. | True. An abdominal ultrasound is a useful tool in terms of determining the internal genitourinary tract anatomy. |
| 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. | False. This baby may have androgen receptor insensitivity in which case a female sex assignment may be more appropriate despite 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. | False. Prompt evaluation and correct gender assignment is of great importance in cases of disorders of sex differentiation to allay parental stress. However do not make arbitrary judgements based simply on the baby’s phenotypic appearance while waiting definitive test results. |
| 7. TRUE/FALSE - disorders of sex differentiation. F. A family history is very important in reaching a correct diagnosis in disorders of sex differentiation. | True. A family history is often a pointer in cases of disorders of sex differentiation. |
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