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Symptoms and Signs – Differential Diagnosis of Hypogonadism
Female
1° hypogonadism (hypergonadotrophic)
Gonadal dysgensis
The genotype may be XO (Turner's syndrome), XX, XY (with disruption of the SRY
gene on Y chromosome or the downstream pathway), XO/XY or XO/XX
(mosaicism)
Gonadal damage
Infection (e.g. mumps)
Autoimmune
Surgery (pelvic)
Radiation
Chemotherapy, e.g. cyclophosphamide
Genetic mutations
LH/FSH beta subunit, LH receptor, FSH receptor, enzymes involved in oestrogen
synthesis (e.g. 17-hydroxylase deficiency), galactosaemia
2° hypogonadism (hypogonadotrophic)
Hypopituitarism
Pituitary tumour/surgery/radiation, infiltrations (e.g. lymphoma, sarcoidosis,
Langerhans cell histiocytosis, lymphocytic hypophysitis)
Functional/hypothalamic, e.g. strenuous exercise, weight loss
Congenital GnRH deficiency (when associated with anosmia: Kallmann's
syndrome), other genetic mutations, e.g. DAX1 (associated with congenital
adrenal hypoplasia), HESX1 (associated with septo-optic dysplasia), isolated LH
or FSH deficiency
Other causes of hypopituitarism: vascular/infection, etc. (See Hypopituitarism)
Hyperprolactinaemia
Systemic diseases
Cystic fibrosis
Crohn's disease/ulcerative colitis, malnutrition of any cause
Cirrhosis
Chronic renal failure
Thalassaemia: repeated blood transfusions leads to haemosiderosis and
hypothalamic dysfunction
Rare causes
Laurence-Moon-Beidl syndrome
Prader-Willi syndrome
Male
1° hypogonadism (hypergonadotrophic):
Gonadal dysgensis
Klinefelter's syndrome (XXY): testes are small and firm with dysgenetic
seminiferous tubules
Cryptorchism: undescended testes
Anorchia: Vanishing testis syndrome: testicular tissue present in fetal life but
absent in the adult
Gonadal damage
Infection (e.g. mumps, echovirus, group B arbovirus, lymphocytic
choriomeningitis),
Trauma, torsion
Autoimmune
Surgery (orchidectomy)
Radiation
Drugs/toxins: cyclophosphamide
Alcohol, marijuana, heroin: l testosterone levels
Genetic mutations
LH/FSH b subunits, LH receptor, FSH receptor, defects in enzymes involved in
testosterone synthesis, myotonic dystrophy
2° hypogonadism (hypogonadotrophic):
Hypopituitarism
Pituitary tumour/surgery/radiation/infiltrations; See Hypopituitarism
Congenital GnRH deficiency (idiopathic hypogonadotrophic hypogonadism)
(Kallmann's syndrome: GnRH deficiency+ one or more non-gonadal
congenital abnormalities e.g. anosmia), other genetic mutations, e.g. DAX1,
HESX1, Prop-1
Female
1° hypogonadism (hypergonadotrophic)
Gonadal dysgensis
The genotype may be XO (Turner's syndrome), XX, XY (with disruption of the SRY
gene on Y chromosome or the downstream pathway), XO/XY or XO/XX
(mosaicism)
Gonadal damage
Infection (e.g. mumps)
Autoimmune
Surgery (pelvic)
Radiation
Chemotherapy, e.g. cyclophosphamide
Genetic mutations
LH/FSH beta subunit, LH receptor, FSH receptor, enzymes involved in oestrogen
synthesis (e.g. 17-hydroxylase deficiency), galactosaemia
2° hypogonadism (hypogonadotrophic)
Hypopituitarism
Pituitary tumour/surgery/radiation, infiltrations (e.g. lymphoma, sarcoidosis,
Langerhans cell histiocytosis, lymphocytic hypophysitis)
Functional/hypothalamic, e.g. strenuous exercise, weight loss
Congenital GnRH deficiency (when associated with anosmia: Kallmann's
syndrome), other genetic mutations, e.g. DAX1 (associated with congenital
adrenal hypoplasia), HESX1 (associated with septo-optic dysplasia), isolated LH
or FSH deficiency
Other causes of hypopituitarism: vascular/infection, etc. (See Hypopituitarism)
Hyperprolactinaemia
Systemic diseases
Cystic fibrosis
Crohn's disease/ulcerative colitis, malnutrition of any cause
Cirrhosis
Chronic renal failure
Thalassaemia: repeated blood transfusions leads to haemosiderosis and
hypothalamic dysfunction
Rare causes
Laurence-Moon-Beidl syndrome
Prader-Willi syndrome
Male
1° hypogonadism (hypergonadotrophic):
Gonadal dysgensis
Klinefelter's syndrome (XXY): testes are small and firm with dysgenetic
seminiferous tubules
Cryptorchism: undescended testes
Anorchia: Vanishing testis syndrome: testicular tissue present in fetal life but
absent in the adult
Gonadal damage
Infection (e.g. mumps, echovirus, group B arbovirus, lymphocytic
choriomeningitis),
Trauma, torsion
Autoimmune
Surgery (orchidectomy)
Radiation
Drugs/toxins: cyclophosphamide
Alcohol, marijuana, heroin: l testosterone levels
Genetic mutations
LH/FSH b subunits, LH receptor, FSH receptor, defects in enzymes involved in
testosterone synthesis, myotonic dystrophy
2° hypogonadism (hypogonadotrophic):
Hypopituitarism
Pituitary tumour/surgery/radiation/infiltrations; See Hypopituitarism
Congenital GnRH deficiency (idiopathic hypogonadotrophic hypogonadism)
(Kallmann's syndrome: GnRH deficiency+ one or more non-gonadal
congenital abnormalities e.g. anosmia), other genetic mutations, e.g. DAX1,
HESX1, Prop-1
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