Hypogonadism Flashcards
(36 cards)
What is hypogonadism?
Hypogonadism, characterized by deficient sex hormone production by the testes in men, manifests with lethargy, weakness, weight gain, decreased libido, erectile dysfunction, gynaecomastia, depression, infertility, and osteoporosis
What is the common cause of primary hypogonadism?
Trauma
Cryptorchidism (undescended testes)
Klinefelter syndrome
Mumps virus
What is the cause of secondary hypogonadism?
Kallmann syndrome, pituitary adenomas, hyperprolactinemia, anorexia nervosa, opioid use, glucocorticoid use, HIV/AIDS, hemochromatosis.
What is the management of symptomatic hypogonadism?
HRT with testosterone that is topical, oral or intramuscular
Regular DEXA scans
What is Kallman syndrome?
Kallmann syndrome is an autosomal dominant syndrome characterised by hypogonadotropic hypogonadism and anosmia. It may present with a lack of secondary sexual characteristics, as seen in these cases, and non-reproductive features include facial abnormalities and extra-ocular movement abnormalities, single kidney, shortened digits and deafness.
What are the blood test findings for primary hypogonadism?
High GnRH, low testosterone, high LH, high FSH
What is empty sella syndrome
Flattening of pituitary gland due to issues with sella turcica or radiotherapy or surgery
What is the most common cause of hypopituitarism?
partial or complete deficiency of hormones produced by the pituitary gland, affecting functions such as growth, reproduction, thyroid regulation, adrenal function, and water balance
What is Kallmann’s syndrome?
A recognised cause of delayed puberty secondary to hypogonadotropic hypogonadism
It is usually inherited as an X-linked recessive trait.
What causes Kallmann’s syndrome?
Failure of GnRH-secreting neurons to migrate to the hypothalamus
What is a common clue for diagnosing Kallmann’s syndrome in boys?
Lack of smell (anosmia) in a boy with delayed puberty
List the key features of Kallmann’s syndrome.
- Delayed puberty
- Hypogonadism
- Cryptorchidism
- Anosmia
- Low sex hormone levels
- Inappropriately low/normal LH, FSH levels
- Patients typically of normal or above-average height
What additional defects can be seen in some patients with Kallmann’s syndrome?
Cleft lip/palate and visual/hearing defects
What is the management for Kallmann’s syndrome?
- Testosterone supplementation
- Gonadotrophin supplementation may result in sperm production if fertility is desired later in life
True or False: Kallmann’s syndrome is always associated with anosmia.
False
Fill in the blank: Kallmann’s syndrome is inherited as an _______ trait.
X-linked recessive
What hormone levels are typically found in patients with Kallmann’s syndrome?
Low sex hormone levels and inappropriately low/normal LH, FSH levels
What is Androgen insensitivity syndrome?
46 XY X-linked recessive condition. Defect in androgen receptor results in end-organ resistance to testosterone causing genotypically male children (46XY) to have a female phenotype. Rudimentary vagina and testes present but no uterus. Testosterone, oestrogen and LH levels are elevated.
Condition leads to female phenotype despite male genotype due to receptor malfunction.
What is the genetic basis of 5-α reductase deficiency?
46 XY, Autosomal recessive condition. Results in the inability of males to convert testosterone to dihydrotestosterone (DHT).
This deficiency causes ambiguous genitalia at birth and virilization at puberty.
What is a common characteristic of Male pseudohermaphroditism?
46 XY. Individual has testes but external genitalia are female or ambiguous. May be secondary to androgen insensitivity syndrome.
This condition reflects a discordance between genetic sex and phenotypic sex.
What defines Female pseudohermaphroditism?
46 XX. Individual has ovaries but external genitalia are male (virilized) or ambiguous. May be secondary to congenital adrenal hyperplasia.
This condition demonstrates a mismatch between chromosomal sex and external genitalia.
What is True hermaphroditism?
46 XX or 47 XXY. Very rare, both ovarian and testicular tissue are present.
This condition involves the presence of both male and female reproductive structures.
Fill in the blank: 5-α reductase deficiency results in the inability of males to convert testosterone to _______.
dihydrotestosterone (DHT)
DHT is crucial for the development of male external genitalia.
True or False: In Androgen insensitivity syndrome, individuals have a uterus.
False
Individuals typically have rudimentary vagina and testes but no uterus.
