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Idiopathic Hypogonadotrophic Hypogonadism                    

Title               

Ñ    Idiopathic Hypogonadotrophic Hypogonadism

Definition

Ñ    Rare genetic condition

Ñ    Insufficient release of gonadotrophin releasing hormone

Ñ    When associated with anosmia it is referred to as Kallman’s syndrome

Aetiology

Ñ    Autosomal dominant

Ñ    Autosomal recessive

Ñ    X-linked

Pathogenesis

Ñ    Abnormal gonadotrophin secretion due to lack of gonadotrophin releasing hormone

Ñ    Results in hypogonadism, infertility and absent, incomplete or partial maturation at puberty

Clinical Features

History:

Sex

Ñ    Males: Females = 4:1

CVS

Ñ    Fatigue

Ñ    Dyspnoea

Ñ    Palpitations

Ñ    Syncope

Associated congenital heart disease

RAG

Ñ    Absent or incomplete puberty

Ñ    Subfertility

Males

Ñ    Decreased libido

Ñ    Erectile dysfunction

Females

Ñ    Primary amenorrhoea

Ñ    Dyspaerunia

CNS

Ñ    Epilepsy:

Kallman’s syndrome

Ñ    Decreased aggressive drive in men

Ñ    Decreased muscle strength

Examination

E&M

Ñ    Eunuchoidal proportions

IS

Ñ    Absence of facial and body hair in males

Ñ    Scanty pubic and axillary hair

CVS

Ñ    Associated congenital heart disease:

ASD, VSD, Ebstein anomaly, transposition of the great vessels, right aortic arch, right bundle branch block, Wolf-Parkinson-White syndrome

GIT

Ñ    Cleft lip and palate:

Small proportion of patients

RAG

Ñ    Lack of breast development in females

Ñ    Small testes and penis in males

CNS

Ñ    Anosmia, colour blindness, sensorineural deafness, paraplegia:

Kallman’s syndrome

Ñ    Decreased muscle strength:

Manifestation of hypogonadism

LMS

Ñ    Osteoporosis

Investigations

Fluids

Blood

Biochemistry

Ñ    Decreased testosterone levels:

Males

Ñ    Decreased oestradiol levels:

Females

Ñ    LH and FSH levels:

Low or low normal

Ñ    Gonadotrophin releasing hormone stimulation test:

Inject GnRH and measure levels of LH and FSH at 15, 30, 45 and 60 minutes

Diminished gonadotrophin response

Pulsatile administration of GnRH for a week restores pituitary responsiveness to GnRH

Imaging

MRI

Ñ    Normal hypothalamus and pituitary

Ñ    Abnormal olfactory systems

Skeletal X-rays

Ñ    Delayed bone age

Management

Support

E&M

Drugs

Ñ    Replacement therapy with either male or female sex hormones

Ñ    Gonadotrophin replacement therapy may be used in an attempt to restore fertility

RAG

Biological agents

Ñ    Assisted contraception may be required in males who do not achieve adequate sperm counts with medical therapy

 

 

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