96 Questions
What is the most common cause of delayed puberty?
Constitutional delay
What is the appropriate investigatory step for adolescents with hypergonadotrophic hypogonadism?
Karyotype testing to exclude Turner and Klinefelter syndromes
What can be estimated by X-rays of epiphyses in cases of constitutional delay?
Bone age
What is the consequence of untreated isolated gonadotrophin deficiency?
Tall stature with disproportionately long arms and legs relative to trunk height
Which factor is NOT a cause of hypogonadotrophic hypogonadism?
Chemotherapy
What is the psychological impact of delayed puberty according to the text?
Significant psychological distress is often associated
What do children with constitutional delay have always been small, but maintain?
A normal growth velocity appropriate for bone age
Which condition results in a eunuchoid habitus if left untreated?
Kallmann syndrome
At what chronological age is puberty considered to be delayed in girls in the UK?
13
What is the major influence in determining the timing of the onset of puberty?
Genetic factors
What acts as a trigger for normal puberty alongside genetic factors?
Body weight
What is the key issue in determining the cause of delayed puberty?
Pathology in the hypothalamus/pituitary or gonads
What should be carefully documented during the general history and physical examination for delayed puberty?
Parental heights
What is the key measurement in boys to investigate hypergonadotrophic hypogonadism?
Testosterone
What should be noted in boys during the general history and physical examination for delayed puberty?
Presence or absence of testes in the scrotum
In girls, what should be measured to investigate hypergonadotrophic hypogonadism?
Oestradiol
What should be performed if gonadotrophin concentrations are elevated?
Chromosome analysis
If gonadotrophin concentrations are low, what is the differential diagnosis between?
Constitutional delay and hypogonadotrophic hypogonadism
What is the primary treatment for inducing puberty in girls with hypogonadism?
Low doses of oral oestrogen
In non-pregnant women, what is almost invariably a consequence of either ovarian or hypothalamic/pituitary dysfunction?
Secondary amenorrhoea
What should be excluded in women of reproductive age by measuring urine or serum hCG?
Pregnancy
What is the mechanism for the reduction in sex hormone-binding globulin?
Insulin secretion by cytokines
How is male hypogonadism confirmed?
By demonstrating a low fasting 0900-hr serum testosterone level
What should be performed in patients with hypergonadotrophic hypogonadism?
Performance of a karyotype
What is the main concern regarding testosterone replacement therapy in older men?
It may aggravate prostatic carcinoma
What is a potential harmful effect of androgen replacement therapy on the cardiovascular system?
Venous thrombosis
What is the recommended age for prescribing hormone replacement therapy?
50 and above
What do large randomized trials need to determine regarding testosterone therapy in mildly hypogonadal men?
If the benefits outweigh potentially harmful effects on the prostate and cardiovascular system
What occurs in those rare patients with elevated androgen levels?
Ovarian tumour
What hormonal profile suggests primary ovarian failure?
High LH and FSH with low or low-normal oestradiol
In women with PCOS, what hormonal levels are commonly observed?
Elevated LH, prolactin, and testosterone levels with normal oestradiol
What is the recommended treatment to test the capacity for menstruation in women with hypogonadotrophic hypogonadism?
Cyclical oestrogen and progestogen for 1 month
What are the clinical features of both hypo- and hypergonadotrophic hypogonadism?
Gynaecomastia and delayed puberty
What is the recommended therapy for women who have had a hysterectomy?
Oestrogen alone
What is the purpose of cyclical hormone replacement therapy (HRT) regimens typically giving oestrogen on days 1–21 and progestogen on days 14–21 of the cycle?
To prevent osteoporotic fractures
What is a potential concern with regard to the use of higher-dose oral or transdermal HRT?
Thrombosis
In patients with premature menopause, when should HRT be continued?
Up to the age of around 50 years
What are the key measurements for investigating hypergonadotrophic hypogonadism in boys and girls?
Testosterone and oestradiol
What is the method for inducing puberty in girls with hypogonadism?
Oral oestrogen
What is the consequence of untreated isolated gonadotrophin deficiency?
Delayed puberty
In non-pregnant women, which condition is almost invariably a consequence of either ovarian or hypothalamic/pituitary dysfunction?
Secondary amenorrhoea
What is defined as premature menopause?
Occurring before 40 years of age
What is the primary cause of primary amenorrhoea in females?
Anatomical defects of the female reproductive system
Which of the following is NOT a cause of hypogonadotrophic hypogonadism?
Anorchidism
What is the most common form of isolated gonadotrophin deficiency?
Kallmann syndrome
What is the consequence of untreated isolated gonadotrophin deficiency?
Tall stature with disproportionately long arms and legs
In constitutional delay of puberty, what can be estimated by X-rays of epiphyses?
Bone age
What is the most common cause of delayed puberty?
Constitutional delay
What is the main concern with regard to testosterone replacement therapy in older men?
Premature fusion of the epiphyses
What is the mechanism for the reduction in sex hormone-binding globulin?
insulin resistance
In male hypogonadism, what distinguishes hypo- and hypergonadotrophic hypogonadism?
Random LH and FSH levels
What should be monitored before commencing testosterone therapy in men older than 50 years?
Prostate-specific antigen (PSA) levels
What is the recommended route of administration for testosterone replacement therapy if smooth and stable testosterone levels are desired?
Transdermal gel application
What potential concern must be carefully weighed against the benefits of testosterone therapy in older men with mild hypogonadism associated with aging and central adiposity?
Cardiovascular health
What consequence can testosterone replacement therapy have on spermatogenesis?
Inhibition of spermatogenesis
What is the threshold for body weight that acts as a trigger for normal puberty?
95th percentile
What should be carefully documented during the general history and physical examination for delayed puberty?
Body proportions
What is the major influence in determining the timing of the onset of puberty?
Genetic factors
What do children with constitutional delay have always been small, but maintain?
Low body weight
What is the differential diagnosis when gonadotrophin concentrations are low?
Hypogonadotrophic hypogonadism and hypergonadotrophic hypogonadism
What is the management for women with functional amenorrhoea due to excessive exercise and low weight?
Reducing exercise and regaining some weight
What is the appropriate treatment for women who have had a hysterectomy?
Oestrogen replacement therapy
What is the consequence of unopposed oestrogen treatment in women with a uterus?
Increased risk of endometrial cancer
What is the most appropriate investigatory step for adolescents with hypergonadotrophic hypogonadism?
Performing a karyotype test
What is the key concern regarding higher-dose oral or transdermal HRT?
Increased risk of thrombosis
What is the typical threshold for performing investigations after a couple has failed to conceive despite unprotected intercourse?
12 months
What method is recommended for testing ovulation in women with regular periods?
Transvaginal ultrasound
How can ovulation be confirmed in women with regular periods?
Blood progesterone concentration on day 21 of the menstrual cycle
How may tubal patency be examined?
Hysterosalpingography (HSG)
What is the primary recommendation for couples experiencing infertility?
'Spontaneous' pregnancies
'Ovarian hyperstimulation syndrome' is characterized by which of the following?
'Grossly enlarged ovaries'
What is the success of IVF primarily dependent on?
Age
What is the primary cause of infertility in men?
Reduced motility of sperm
What is a potential cause of severely abnormal spermatogenesis in men?
Microdeletions of the Y chromosome
What is an indicator of anovulatory cycles in women?
Infrequent menstrual periods
What should be explored sensitively during the sexual history assessment?
Frequency of intercourse
Which structural abnormality should be examined in men during clinical assessment for infertility?
Varicocele
What is the most common cause of infertility in women?
PCOS
What may result from anovulation or abnormalities of the reproductive tract in women?
Damaged Fallopian tubes
What is a key factor often present when more than one factor causing subfertility is identified in couples?
No identifiable cause
What is a potential consequence of untreated isolated gonadotrophin deficiency?
Elevated androgen levels
What is the primary cause of gynaecomastia?
Imbalance between androgen and oestrogen activity
What is the most common cause of gynaecomastia in older men?
Decreasing testosterone concentrations
Which hormone excess alone does NOT cause gynaecomastia?
Prolactin
What is the recommended investigatory step if a clinical distinction between gynaecomastia and adipose tissue cannot be made?
Ultrasonography or mammography
What should be sought during the clinical assessment to distinguish between gynaecomastia and adipose tissue?
Palpation and examination of testes
What is the primary influence on normal breast development in women?
Oestrogen excess
In which group does gynaecomastia occur due to the earlier elevation of oestradiol levels compared to testosterone?
Newborn babies
What is the most effective treatment for gynaecomastia in hypogonadal males?
Androgen replacement
Which anti-oestrogen may be effective in reducing the size of breast tissue in gynaecomastia?
Tamoxifen
What is the most common cause of isolated gonadotrophin deficiency?
Idiopathic
What treatment is recommended for polycystic ovary syndrome (PCOS) to address minor elevation of androgens and mild hyperprolactinaemia?
Metformin, glitazones
What is the key clinical feature that distinguishes congenital adrenal hyperplasia (95% 21-hydroxylase deficiency)?
Virilisation
What is the most common cause of hirsutism in women associated with an androgen-dependent distribution of terminal hair?
Polycystic ovary syndrome (PCOS)
What investigation finding confirms congenital adrenal hyperplasia (95% 21-hydroxylase deficiency)?
Abnormal rise in 17-OH-progesterone with ACTH
What is the recommended treatment for androgen-secreting tumour of the ovary or adrenal cortex?
Surgical excision
This quiz covers topics related to hypogonadism, including cryptorchidism, gynaecomastia, hypergonadotrophic hypogonadism, Klinefelter syndrome, Turner syndrome, and other causes of primary gonadal failure. It also includes key measurements and investigations such as LH, FSH, testosterone, oestradiol, and chromosome analysis.
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