Tutorial 2 January 2023

Contact me

Website  

 

52	Structured conversation.
53	Role-play.
54	EMQ. Stilboestrol
55	SBA. McCune-Albright syndrome
56	EMQ. Mayer-Rokitansky-Küster-Hauser syndrome

                                   

52.         Structured conversation.

I’ll send the details relating to 52 and 53 shortly before the tutorial begins as I want you to deal with the stations without preparation to best simulate the exam.

 

53.         Role-play.

 

54.         Stilboestrol.

Abbreviations.

DOS:     ‘daughter(s) of stilboestrol’. Daughters of WSIP.

FDA:      US Food and Drug Administration.

GDOS:   ‘granddaughter(s)  of stilboestrol’’. Granddaughters of WSIP.

GSOS:   ‘grandson(s)  of stilboestrol’’. Grandsons of WSIP.

SOS:      ‘son(s)  of stilboestrol’. Sons of WSIP.

WSIP:    women who took stilboestrol in pregnancy.

Question 1.        When was stilboestrol first described?

A	1938
B	1940
C	1950
D	1961
E	1970
F	1971
G	1973
H	1984
I	2005
J	2019

Question 2.        When did Herbst describe the risk of cancer for DOS?

Option list.         Use the list for question 1.

Question 3.        Which cancer did he refer to?

Option list.         Use the list for question 7.

Question 4.        When did the FDA and CSM issue warnings about the use of DES in pregnancy?

Option list.      Use the list for question 1.

Question 5.        The Kefauver-Harris Amendments to the 1938 Food, Drug, and Cosmetic Act were a response to the thalidomide tragedy / scandal in the USA. When were they enacted?

Option list.      Use the list for question 1.

Question 6.        When was the  US National Cancer Institute’s “DES Third Generation Study” published?

Option list.      Use the list for question 1.

Question 7.        Which, if any, of the following are more common in women who took DES in pregnancy?

A	amenorrhoea
B	menstrual irregularity
C	infertility
D	polycystic ovary syndrome
E	breast cancer
F	cervical cancer
G	ovarian cancer
H	miscarriage
I	ectopic pregnancy
J	pre-eclampsia
K	premature delivery
L	IUGR
M	neural tube defect
N	uterine malformation
O	cervical malformation
P	abnormal cervical cytology
Q	vaginal adenosis
R	vaginal adenocarcinoma
S	vaginal squamous carcinoma
T	vaginal melanoma
U	ADHD
V	depression

Question 8.        Which, if any, of the following are more common in DOS?

Option list.      Use the option list for Question 7.

Question 9.        Which, if any, of the following have been described as risks for SOS?

A	ADHD
B	cryptorchidism
C	depression
D	hypospadias
E	infertility
F	prostate cancer
G	suicide

Question 10.    Which, if any, of the following have been described as risks for GDOS?

Option list.      Use the option list for Question 7.

Question 11.    Which, if any, of the following have been described as risks for GSOS?

Option list.      Use the list for question 9.

 

55.         McCune-Albright syndrome.

Abbreviations.

MCA:    McCune Albright syndrome.

PFD:      polyostotic fibrous dysplasia.

PP:         precocious puberty.

Scenario 1.    Which, if any, of the following are components of the classical triad of MCA?

A	albinism
B	“cafè Cubano” spots
C	“Coast of California” pigmented areas
D	lentigo
E	macroorchidism
F	osteomalacia
G	polyostotic fibrous dysplasia
H	precocious puberty
I	premature menopause
J	primary amenorrhoea

Scenario 2.    Which, if any, of the following are true in relation to MCA?

A	it is an example of central primary amenorrhoea
B	it is an example of central secondary amenorrhoea
C	it is an example of central precocious puberty
D	it is an example of peripheral primary amenorrhoea
E	it is an example of peripheral secondary amenorrhoea
F	it is an example of peripheral precocious puberty
G	none of the above

Scenario 3.    Which, if any, of the following are believed to be true in relation to the abnormality of

onset of puberty associated with MCA?

A	it is due to abnormal FSH production
B	it is due to abnormal LH production
C	it may be due to abnormal androgen production
D	it may be due to abnormal oestrogen production
E	it is linked to ovarian cysts with ↑ malignant potential
F	none of the above

Scenario 4.    Which, if any, of the following are true in relation to polyostotic fibrous dysplasia?

A	polyostotic means resembling parrot bone
B	polyostotic means resembling pigeon bone
C	polyostotic means affecting long bones
D	fibrous dysplasia refers to replacement of marrow by fibrous tissue
E	PFD is a variant of osteomalacia
F	PFD may be unilateral
G	PFD is associated with a 1% risk of malignancy

Scenario 5.    Which, if any, of the following are true in relation to MCA?

A	hyperthyroidism is common
B	hypothyroidism is common
C	thyroid function is similar to those without MCA

Scenario 6.    Which, if any, of the following are true in relation to MCA?

A	excess growth hormone production  is common
B	inadequate growth hormone production is common
C	growth hormone production is similar to those without MCA

Scenario 7.    Which, if any, of the following is true in relation to MCA?

A	inheritance is autosomal dominant
B	inheritance is autosomal recessive
C	inheritance is X-linked dominant
D	inheritance is X-linked recessive
E	inheritance is multifactorial
F	it is not a hereditary disorder
G	it is not genetic
H	none of the above

Scenario 8.    Which, if any, of the following are true in relation to MCA?

A	renal artery stenosis is more common
B	renal cortex wasting is more common
C	renal phosphate wasting is more common
D	renal waisting is more common
E	none of the above.

Scenario 9.    Approximately what % of children born to women with MCAS will have MCAS?

A	0
B	1 in 105 - 106
C	1 in 104
D	1 in 100
E	1 in 50
F	1 in 10
G	1 in 2
H	All

 

56.         Mayer-Rokitansky-Küster-Hauser syndrome.

Note. Some of the questions are not true EMQs as there may be more than one correct answer – this is me being lazy and saving typing.

Mayer–Rokitansky–K

¨

uster–Hauser

syndrome: diagnosis and management

With regard to the MRKH syndrome,

61. there is failure of development of the

mesonephric ducts. T F

62. the phenotype and genotype are female. T F

63. studies have established a link between the

syndrome and the use of diethylstilbestrol in

pregnancy. T F

With regard to the anatomical abnormalities seen in

MRKH syndrome,

64. symmetrical uterovaginal aplasia is found in

type I disorders. T F

65. renal abnormalities are seen in more than

half of cases. T F

66. skeletal abnormalities are reported in up to

one-fifth of cases. T F

67. up to one-quarter of women have a

malformed ear or auditory canal. T F

68. the close proximity of the m

¨

ullerian and

wolffian duct derivatives to the metanephric

duct in the developing embryo explains the

higher association of malformations of the

kidneys with this condition. T F

69. vaginal agenesis is caused by failure of the

caudal part of the m

¨

ullerian duct system to

develop. T F

Regarding the diagnosis of MRKH syndrome,

70. magnetic resonance imaging is the gold

standard tool. T F

71. two-dimensional ultrasound scanning is not

useful for associated renal tract

abnormalities. T F

72. complete androgen insensitivity syndrome is

an important differential diagnosis. T F

73. the presence of cyclical abdominal pain will

rule out the diagnosis, as it indicates the

presence of functioning endometrium. T F

With regard to the creation of a neovagina,

74. it is recommended that treatment is initiated

as soon as the diagnosis is made. T F

75. psychological support to women undergoing

this procedure is of the utmost importance. T F

76. vaginal dilators are acceptable as an option

for first-line therapy. T F

77. Ingram’s modified Frank’s technique involves

the use of vaginal dilators. T F

With regard to the surgical creation of a neovagina,

78. in the Davydov procedure the neovagina is

lined with peritoneum. T F

With regard to fertility in women with the MRKH

syndrome,

79. transvaginal egg retrieval is recognised to be

difficult during in vitro fertilisation. T F

80. the condition has been shown to be

transmissible to the offspring. T F

Abbreviations.

AIS:          androgen insensitivity syndrome

AMH:       anti- Müllerian hormone

MRKH:     Mayer-Rokitansky-Küster-Hauser syndrome

MURCS:  Müllerian duct aplasia, renal dysplasia and cervical somite anomaly syndrome.

Question 1.        What are the main features of MRKH? There is no option list to make life harder.

Question 2.        Which, if any, are the main secondary features associated with MRKH?

Option list.

A	anosmia
B	attention-deficit-hyperactivity syndrome
C	auditory anomalies
D	neural tube defects
E	renal anomalies
F	skeletal anomalies

Question 3.        How does MRKH syndrome usually present?

Option list.

A	cyclical pain due to haematometra
B	delayed puberty
C	precocious puberty
D	premature menopause
E	primary amenorrhoea
F	recurrent otitis media
G	recurrent urinary tract infection
H	secondary amenorrhoea

Question 4.        Which of the following chromosome patterns are typical of MRKH?

Option list.

A	45XO
B	45YO
C	46XX
D	46XY
E	47XXX
F	47XXY

Question 5.        What is the approximate incidence of MRKH in newborn girls?

Option list.

A	~ 1 in 1,000
B	~ 1 in 2,000
C	~ 1 in 4,000
D	~ 1 in 6.000
E	~ 1 in 8,000
F	~ 1 in 10,000
G	~ 1 in 100,000
H	the figure is unknown
I	it does not occur

Question 6.        What is the approximate incidence of MRKH in newborn boys?

Option list.

A	~ 1 in 1,000
B	~ 1 in 2,000
C	~ 1 in 4,000
D	~ 1 in 6.000
E	~ 1 in 8,000
F	~ 1 in 10,000
G	~ 1 in 100,000
H	the figure is unknown
I	it does not occur

Question 7.             Which of the following statements are correct in relation to urinary tract anomalies associated with MRKH?

Option list.

A	absent bladder
B	absent kidney
C	ectopic ureter
D	horseface kidney
E	hypospadias
F	urinary tract anomalies are not part of the syndrome

Question 8.             Which of the following statements are correct in relation to skeletal anomalies associated with MRKH?

Option list.

A	absent thumb
B	absent big toe
C	developmental dysplasia of the hip
D	Klippel-Feil anomaly
E	ulnar hypoplasia
F	vertebral fusion
G	skeletal anomalies are not part of the syndrome

Question 9.             Which of the following statements are correct in relation to auditory anomalies associated with MRKH?

Option list.

A	absent ear
B	absent stapes
C	acoustic neuroma
D	conductive deafness
E	inductive deafness
F	stapedial ankylosis
G	auditory anomalies are not part of the syndrome

Question 10.    What is the recommended first-line management for creation of a neovagina.

Option list.

A	digital dilatation
B	marriage to a virile husband
C	vaginal balloons
D	vaginal dilators
E	vaginoplasty
F	there is no recommended 1st. line management

Question 11.     What are the key features of Davydov vaginoplasty?

Option list.

A	horseshoe perineal incision with labial flaps used to create a pouch
B	creation of space between bladder and rectum and lining it with amnion
C	creation of space between bladder and rectum and lining it with skin graft
D	creation of space between bladder and rectum and lining it with sigmoid colon
E	creation of space between bladder and rectum and lining it with peritoneum
F	traction via threads running to the abdomen from a vaginal bead

Question 12.    What are the key features of McIndoe vaginoplasty?

Option list.

A	horseshoe perineal incision with labial flaps used to create a pouch
B	creation of space between bladder and rectum and lining it with amnion
C	creation of space between bladder and rectum and lining it with skin graft
D	creation of space between bladder and rectum and lining it with sigmoid colon
E	creation of space between bladder and rectum and lining it with peritoneum
F	traction via threads running to the abdomen from a vaginal bead

Question 13.    What are the key features of Vecchietti vaginoplasty?

Option list.

A	horseshoe perineal incision with labial flaps used to create a pouch
B	creation of space between bladder and rectum and lining it with amnion
C	creation of space between bladder and rectum and lining it with skin graft
D	creation of space between bladder and rectum and lining it with sigmoid colon
E	creation of space between bladder and rectum and lining it with peritoneum
F	traction via threads running to the abdomen from a vaginal bead

Question 14.    What are the key features of Williams vaginoplasty?

Option list.

A	horseshoe perineal incision with labial flaps used to create a pouch
B	creation of space between bladder and rectum and lining it with amnion
C	creation of space between bladder and rectum and lining it with skin graft
D	creation of space between bladder and rectum and lining it with sigmoid colon
E	creation of space between bladder and rectum and lining it with peritoneum
F	traction via threads running to the abdomen from a vaginal bead

TOG CPD questions.

With regard to the MRKH syndrome.

1.     there is failure of development of the mesonephric ducts.                                     True / False

2.     the phenotype and genotype are female.                                                                   True / False

3.     studies have established a link between the syndrome and the use of diethylstilboestrol in pregnancy.                                                                                                                              True / False

With regard to the anatomical abnormalities seen in MRKH syndrome.

4.     symmetrical uterovaginal aplasia is found in type I disorders.                                True / False

5.     renal abnormalities are seen in more than half of cases.                                         True / False

6.     skeletal abnormalities are reported in up to one-fifth of cases.                              True / False

7.     up to one-quarter of women have a malformed ear or auditory canal.                    True / False

8.     the close proximity of the Müllerian and Wolffian duct derivatives to the duct in the developing embryo explains the higher association of malformations of the kidneys with this condition.

True / False

9.     vaginal agenesis is caused by failure of the caudal part of the Müllerian duct system to develop.

True / False

Regarding the diagnosis of MRKH syndrome,

10.   magnetic resonance imaging is the gold standard tool.                                            True / False

11.   two-dimensional ultrasound scanning is not useful for associated renal tract abnormalities.

True / False

12.   complete androgen insensitivity syndrome is an important differential diagnosis.  True / False

13.   the presence of cyclical abdominal pain will rule out the diagnosis, as it indicates the presence of functioning endometrium.                                                                                          True / False

With regard to the creation of a neovagina,

14.   it is recommended that treatment is initiated as soon as the diagnosis is made.     True / False

15.   psychological support to women undergoing this procedure is of the utmost importance.

True / False

16.   vaginal dilators are acceptable as an option for first-line therapy.                         True / False

17.   Ingram’s modified Frank’s technique involves the use of vaginal dilators.                    True / False

With regard to the surgical creation of a neovagina,

18.   in the Davydov procedure the neovagina is lined with peritoneum.                      True / False

With regard to fertility in women with the MRKH syndrome,

19.   transvaginal egg retrieval is recognised to be difficult during in vitro fertilisation.             True / False

20.   the condition has been shown to be transmissible to the offspring.                      True / False