MEHMO Natural History and Biomarkers
Intellectual DisabilityEpilepsy4 moreThis observational natural history study will follow individuals with MEHMO (Mental disability, Epileptic seizure, Hypopituitarism/Hypogenitalism, Microcephaly, Obesity) syndrome or an eIF2-pathway related disorder, who have symptoms such as intellectual delay, seizures, abnormal hormone and blood sugar levels, and decreased motor skills. No current treatment for these conditions is available. A major impediment to the testing of potential therapeutic interventions is the lack of well-defined outcome measures. This protocol seeks to identify biochemical and clinical markers to monitor disease progression, and better understand the natural history of these conditions. Any person diagnosed with MEHMO syndrome or related conditions, who can travel to the NIH Clinical Center can participate in this study. The study involves: General health assessment and evaluation Imaging studies Laboratory tests Collection of blood, urine, spinal fluid, skin biopsy.
Kisspeptin Administration Subcutaneously to Patients With IHH
Hypogonadotropic HypogonadismThe goal of this study is to see whether kisspeptin, a naturally occurring hormone, can stimulate the release of other reproductive hormones in men and women with idiopathic hypogonadotropic hypogonadism (IHH). The investigators are also examining whether kisspeptin can help women release eggs from their ovaries. Gonadotropin-releasing hormone (GnRH) may be administered subcutaneously (SC) for approximately six days in a pulsatile fashion, in order to prime the pituitary gland. Kisspeptin will be administered SC for two weeks in a pulsatile fashion. Ultrasound monitoring of ovarian follicular growth (for women) and frequent blood sampling (every 10 minutes for up to 70 minutes) will be performed to assess the physiologic response to kisspeptin over time.
Kisspeptin Administration Subcutaneously to Patients With Reproductive Disorders
Hypothalamic AmenorrheaHypogonadotropic HypogonadismThe goal of this study is to see whether kisspeptin, a naturally occurring hormone, can stimulate the release of other reproductive hormones in women with hypothalamic amenorrhea (HA). The investigators are also examining whether kisspeptin can help women release eggs from their ovaries. Kisspeptin will be administered subcutaneously (SC) for two weeks in a pulsatile fashion. Ultrasound monitoring of ovarian follicular growth and frequent blood sampling (every 10 minutes for up to two hours) will be performed to assess the physiologic response to kisspeptin over time.
Late Subclinical Cardiovascular Disease in Testicular Cancer Survivors
Testicular CancerSurvivorship7 moreLate subclinical cardiovascular disease in testicular cancer survivors exposed to cisplatin-based chemotherapy and bone marrow transplant
Neuropeptides in Human Reproduction
Hypogonadotropic HypogonadismThe investigators are seeking healthy volunteers and volunteers with reproductive disorders for the study of the role of dynorphin in the reproductive system. Dynorphin is a naturally occurring opioid hormone that is blocked by naloxone. We hypothesize that naloxone, by blocking dynorphin, will stimulate production of gonadotropin-releasing hormone (GnRH) and kisspeptin, two other naturally occurring reproductive hormones.
Association Between Human Immunodeficiency Virus (HIV) Infection and Male Hypogonadism
Hypogonadism; OvarianCross-sectional study investigating the prevalence of hypogonadism in HIV-infected MSM population
Vogelxo(R) ABPM Study in Hypogandal Men
HypogonadismMaleA Phase 4 ABPM study in Hypogonadal Men
Testosterone Undecanoate Replacement Therapy in Boys With Pubertal Delay or Confirmed Hypogonadism...
Delayed PubertyMale HypogonadismThe absence of clinical signs of pubertal maturation, i.e. pubertal delay, is a relatively frequent reason for consultation in boys. In cases where it is necessary, the treatment to be established is the administration of testosterone with the aim of provoking the development of secondary sexual characteristics and optimizing growth. Currently, the most commonly used treatment is empirical, with im testosterone enanthate at increasing doses (from 50 mg every 4 weeks up to 250 mg every 4 weeks) over a period of 2 to 3 years. The pharmacokinetic profile has not been described to see if it mimics the physiological progressive increase in testosterone levels occurring during normal puberty. In adults, testosterone enanthate shows supraphysiological serum testosterone the first week after, with a progressive drop to subphysiological levels in the fourth week. Testosterone undecanoate is used in adults at a dose of 1000 mg im every 12 weeks, as equivalent to testosterone enanthate 250 mg every 4 weeks.Serum levels of testosterone show a profile within physiological ranges. Testosterone undecanoate im has not been tested in adolescents. Hypothesis: The hypothesis of this work is that the initial administration of 1 ml (~250 mg) of testosterone undecanoate (1000 mg/4 ml) via im every 12 weeks for 6 months, with a progressive increase of 1 ml (~250 mg) every 6 months until reaching 4 ml (1000 mg) per dose is safe and effective in causing normal progression of secondary sex characteristics and growth spurt in boys with pubertal delay. The primary specific objectives are to determine, in boys with pubertal delay: (a) if a treatment regimen of testosterone undecanoate (1000 mg/4 ml), with an initial dose of 250 mg every 12 weeks and subsequent increase up to 1000 mg every 12 weeks over 2 years (increasing 250 mg every 6 months) induces a progression in the development of secondary sexual characteristics and growth spurt commensurate with those of normal pubertal development, and (b) the safety of the administration of increasing doses of im testosterone undecanoate.
Inherited Reproductive Disorders
Genetic DisorderInfertility2 moreBackground: - During puberty, children begin to develop into adults. Problems with the hormones released during puberty can affect the reproductive system. Some people have low hormone levels that severely delay or prevent puberty. Others start puberty abnormally early. Other people may have a normal puberty but develop reproductive disorders later in life. Researchers want to study people with reproductive disorders to learn more about how these disorders may be inherited. Objectives: - To learn how reproductive system disorders may be inherited. Eligibility: People with one of the following problems: Abnormally early puberty Abnormally late or no puberty Normal puberty with hormonal problems that develop later in life People who have not yet had puberty but have symptoms that indicate low hormone levels. Design: Participants will provide a blood sample for testing. They will complete a questionnaire about their symptoms. They will also have a scratch-and-sniff test to study any problems with their ability to smell. Participant medical records will be reviewed. Participants will also provide a family medical history. Family members of those in the study may be invited to participate. Treatment will not be provided as part of this study....
A Dose Ranging Study to Examine TDS-Testosterone 5%
HypogonadotropismThis study is a continuation of previous studies done in healthy volunteers to prove the efficacy of delivering Testosterone, the male hormone, rapidly across intact skin in s series of doses from low to high in men with low-to-no natural testosterone production to measure their response to the varying doses. The results of this study will inform further studies which will be longer in length, as to the starting doses. The study will be conducted in London, U.K. at the Advanced Therapies Centre, The London Clinic.