Testosterone gel sachets, Testosterone undecanoate injection (Nebido), Human chorionic gonadotropin (hCG) injection, Menotropin injection (hMG). For both males and females, the initial aim for treatment is the development of the secondary sexual characteristics normally seen at puberty. Once this has been achieved, continued hormone replacement therapy is required for both males and females to maintain sexual function, bone health, libido and general wellbeing. In males, testosterone replacement therapy is required for the maintenance of normal muscle mass. Early treatment is sometimes required for male infants with suspected<unk> /CHH to correct undescended testes and micropenis if present with the use or surgery or gonadotropin or DHT treatment. Females with<unk> /CHH normally do not require any treatment before adolescence. Currently, no treatments exist for the lack of sense of smell, mirror movement of the hands or the absence of one kidney. Treatment for both males and females with<unk> /CHH normally consists of one of three options which can be used for both hormone replacement therapy and/or fertility treatment. * Sex hormone replacement (testosterone or oestrogen & progesterone). * Gonadotropin therapy (medications that replicate the activity of FSH and LH). * GnRH pulsatile therapy. Hormone replacement therapy The method and dose of treatment will vary depending on the individual being treated. Initial treatment is normally made with lower doses in younger patients in order to develop the secondary sexual characteristics before adult doses are reached. For males with<unk> /CHH the types of testosterone delivery include daily patches, daily gel use, daily capsules, subcutaneous or intramuscular injections or six-monthly implants. Different formulations of testosterone are used to ensure both the anabolic and androgenic effects of testosterone are achieved. Nasal testosterone delivery methods have been developed but their use in<unk> /CHH treatment has not been formally evaluated. Gonadotropin therapy, in the form of human chorionic gonadotropin (hCG) injections, with or without the use of FSH, can also be used in male patients to induce secondary sexual characteristic development alongside possible fertility induction. For females, hormone replacement involves the use of oestrogen and progesterone. Firstly, oestrogen is used in tablet or gel form in order to maximise breast development, then a combination of oestrogen and progesterone is used. Cyclical progesterone is normally required to help keep the endometrium (lining of the uterus) healthy. In males, the monitoring of treatment normally requires the measurement of serum testosterone, inhibin B, haematocrit and prostate-specific antigen (PSA). If injections are used, trough levels are taken to ensure an adequate level of testosterone is achieved throughout the injection cycle. In females monitoring normally consists of measurement of oestrogen, FSH, LH, inhibin B and anti-Müllerian hormone (AMH). Standard hormone replacement therapy will not normally induce fertility in either males or females, with no testicular growth in males. Early treatment as adolescents can help with psychological well being of people with<unk> /CHH. Fertility treatments Gonadotropin therapy can be used in both male and female patients in order to achieve fertility for some people. Pulsatile GnRH therapy can also be used to induce fertility, especially in females, but its use is limited to a few specialist treatment centres. In males with<unk> /CHH, infertility is primarily due to the lack of sperm production within the testes. Sperm production can be achieved through either the use of GnRH administered via a microinfusion pump or through the use of gonadotropin injections (hCG, FSH, hMG). The time taken to achieve adequate sperm production for natural conception will vary from person to person. If the pre-treatment testes are very small and there has been a history of undescended testes it might take longer to achieve sperm production. In these cases, assisted reproductive technology, such as sperm retrieval using testicular sperm extraction (TESE) and/or intracytoplasmic sperm injection (ICSI), might be required. In females with<unk> /CHH, infertility is primarily due to the lack of maturation of eggs located within the ovaries. Ovulation induction can be achieved either with pulsatile GnRH therapy or alternatively with gonadotropin injections (hCG, FSH, hMG) given at set intervals to trigger the maturation and release of the egg for natural conception.
Kallmann syndrome
Klinefelter syndrome
Waldmann disease
Turner syndrome
Angelman syndrome
Hanhart syndrome
Parsonage–Turner syndrome
Gerstmann syndrome