Diagnosing<unk>  and other forms of CHH is complicated by the difficulties in distinguishing between a normal constitutional delay of puberty or a case of<unk> /CHH. The diagnosis is often one of exclusion found during the workup of delayed puberty. In males, the use of age appropriate levels of testosterone can help to distinguish between a case of<unk> /CHH from a case of delayed puberty. If no puberty is apparent, especially no testicular development, then a review by a reproductive endocrinologist may be appropriate. If puberty is not apparent by the age of 16 then the person should be referred for endocrinological review. Post natal diagnosis of<unk> /CHH before the age of 6 months is sometimes possible as the normal post natal hormonal surge of gonadotropins along with testosterone or oestrogen is absent in babies with<unk> /CHH. This lack of detectable hormones in the blood can be used as a diagnostic indicator, especially in male infants. In females, diagnosis is sometimes further delayed as other causes of amenorrhoea normally have to be investigated first before a case of<unk> /CHH is considered. Tanner scale-female Diagnosis of<unk> /CHH normal involves a range of clinical, biochemical and radiological tests to exclude other conditions that can cause similar symptoms. Clinical tests * Comparing height to standard growth charts. * Determining the Tanner stage of sexual development. (Males with<unk> /CHH are normally at stage I or II with genitalia, females at stage I with breast development and both males and females at stage III with pubic hair development). * Checking for micropenis and undescended testes (cryptorchidism) in males. * Measuring testicular volume. * Checking for breast development and age at menarche in females. * Checking sense of smell using odorant panel or University of Pennsylvania Smell Identification Test (UPSIT) * Checking for hearing impairment. * Checking for missing teeth or presence of cleft lip and/or cleft palate. * Checking for pigmentation of skin and hair. * Checking for mirror movements of the hands or signs of neurodevelopmental delay. Lab tests * Early morning hormonal testing including FSH, LH, testosterone, oestrogen and prolactin. * GnRH and/or hCG stimulation test to determine activity of hypothalamus and pituitary. * Sperm test * Liver function, renal function and inflammation marker testing. * Karyotype to check for chromosomal abnormalities. Medical imaging * Performing wrist x-ray to determine bone age. * Brain MRI to rule out any structural abnormalities in the hypothalamus or pituitary and to check for presence of olfactory bulbs. * Ultrasound of kidneys to rule out unilateral renal agenesis. * Bone density scan (DXA) to check for osteoporosis or osteopenia.
Kallmann syndrome
Klinefelter syndrome
Waldmann disease
Turner syndrome
Angelman syndrome
Hanhart syndrome
Parsonage–Turner syndrome
Gerstmann syndrome