Kallmann Syndrome

This research aims to evaluate the effects of additional human chorionic gonadotropin (hCG) injections for luteal phase support (LPS) on pregnancy outcomes in women with idiopathic hypogonadotropic hypogonadism (IHH). IHH is a rare condition caused by genetic variants leading to hormone secretion issues, resulting in delayed puberty, amenorrhea, infertility, and psychological challenges. Luteal phase deficiency (LPD) is a major cause of failure in assisted reproductive treatments and early pregnancy loss in these patients. This open-labeled, prospective, randomized clinical trial conducted in a single center investigates whether an extra hCG injection 48 hours after the routine trigger can improve pregnancy success rates and reduce complications like early pregnancy loss and ovarian hyperstimulation syndrome (OHSS). Participants are randomly assigned to one of two groups: one receives an additional hCG injection of 2000-5000 IU 48 hours after the routine hCG trigger and ovulation, alongside estrogen and dydrogesterone supplementation for luteal phase support. The other group receives only estrogen and dydrogesterone. The trial compares clinical pregnancy rate at 7 weeks, cumulative pregnancy rate at 12 weeks, and live birth rate at 42 weeks or beyond to assess the impact of the added hCG. During the study, women's reproductive and psychological health will be monitored, including pregnancy outcomes and mental health conditions such as depression and anxiety linked to reproductive needs. Researchers will track early pregnancy loss and OHSS occurrences. Participants will be followed through pregnancy milestones, with the total study duration covering up to the live birth period, allowing comprehensive evaluation of treatment effects and associated emotional outcomes.

This research aims to compare the thickness of the endometrial lining in adolescent and young adult females on estrogen replacement therapy using two types of progesterone treatments: daily oral micronized progesterone and the etonogestrel implant. The study focuses on patients aged 12 to 25 years with specific diagnoses requiring estrogen therapy, addressing gaps in knowledge about endometrial protection and bleeding patterns in this group. Participants will choose between two progesterone therapies: oral micronized progesterone taken daily at 100mg or the etonogestrel implant placed in a clinic. The study will last six months, during which participants will continue their estrogen therapy and start their selected progesterone treatment. Two pelvic ultrasounds will be performed, one at the start and one after six months of progesterone use, to measure changes in endometrial thickness. Throughout the study, participants will complete surveys about bleeding patterns, side effects, satisfaction, and adherence to their progesterone treatment. The study team will track medication use through pill counts or photos for those on oral progesterone. All ultrasound and survey data will be securely stored and analyzed to assess the mean change in endometrial thickness and other patient-reported outcomes over six months.

Researchers are investigating the genetic causes of reproductive disorders such as hypogonadotropic hypogonadism and Kallmann syndrome, as well as cleft lip and/or palate. These conditions affect puberty, sexual maturation, and fertility, and may share genetic links. The study aims to deepen understanding of the genetic control of puberty and reproduction, and how these relate to cleft lip and palate, with hopes to improve diagnosis, treatment, and counseling for affected individuals and families. Participants with reproductive disorders, with or without cleft lip/palate, and their family members will be enrolled. Patients will complete medical questionnaires, provide family history, and have various specimens collected including blood, saliva, urine, hair follicles, sperm, or skin biopsies. They will also undergo tests such as smell and hearing assessments, bone density scans, brain MRI, and ultrasounds of kidney and reproductive organs. Family members will also provide questionnaires, samples, and undergo smell testing. During the study, researchers will analyze genetic variants and their function, inheritance patterns, and how these relate to physical traits. The main outcome is identifying rare genetic sequence variants. Participants will be monitored for about one year following variant identification. The study includes ongoing assessments of family history, clinical features, and biological samples to better understand these inherited conditions and their impact.

Researchers are studying adults with rare and complex genetic syndromes that affect multiple body systems and often include intellectual disability. These patients typically receive specialized care from multiple specialists during childhood, but as medical advances have extended life expectancy, many are now living into adulthood. The study aims to understand the medical needs, comorbidities, medication use, and quality of life impacts for adults with these rare syndromes, addressing a gap in adult care and guidelines. This research involves a retrospective review of medical files, including medical history, laboratory results, additional tests, and records of physical and psychological complaints. There is no active treatment or intervention, as the study collects and analyzes existing data to gain insights about health issues and medication adaptations needed for these syndromes. Participants' medical records will be analyzed to evaluate the presence of physical health problems, laboratory values, physical and psychological complaints, and medication use over a one-year period. The study uses statistical software for analysis and aims to improve understanding of adult care needs for these rare genetic conditions. The study began in October 2018 and will continue through January 2030.

This research aims to evaluate whether osteopathic manipulative treatment (OMT) can help adults who lost their sense of smell due to COVID-19 recover their olfactory perception. Loss of smell is a common symptom of COVID-19 that can lower quality of life and pose safety risks. The study also seeks to understand how long any improvement in smell lasts after treatment. Participants will be randomly assigned to receive either OMT or a sham treatment. OMT involves two specific procedures: occipitoatlantal decompression using 12N of pressure for 2 minutes, and treatment of the nasal Chapman points while lying down. The sham treatment involves the investigator resting their hands gently on the sides of the participant's neck for 5 minutes. The study includes initial smell testing before and after treatment, as well as follow-up tests the next day and within 1 to 2 weeks. During the study, participants will undergo smell tests using the validated "Sniffin' Sticks" protocol in a well-ventilated area. Testing occurs before treatment, immediately after, daily for up to 10 days, and at follow-up visits. Researchers will monitor changes in smell ability and assess the duration of any improvements. Safety and adherence are observed throughout, with participants wearing masks during evaluations. The total participation spans from enrollment until two weeks post-treatment to measure recovery of smell.

Researchers are studying whether kisspeptin, a natural hormone, can stimulate the release of reproductive hormones and help women with hypothalamic amenorrhea (HA) release eggs from their ovaries. The study focuses on women with acquired hypothalamic amenorrhea or functional hypogonadotropic hypogonadism. This Phase 2 trial aims to understand kisspeptin's effects on hormone release and ovarian function. Participants will receive kisspeptin through a pump that delivers the hormone subcutaneously in a pulsatile manner approximately every 90 minutes over two weeks. During this period, they will undergo frequent blood sampling every 10 minutes for about two hours on four separate occasions, along with pelvic ultrasounds to monitor ovarian follicle growth. Optional longer blood sampling sessions of up to 10 hours may also occur before and after treatment. Throughout the study, participants will have their medical history reviewed and physical exams conducted, including screening lab tests and baseline pelvic ultrasounds. Researchers will closely monitor hormone levels and follicular growth to assess kisspeptin's physiological effects. The primary measure is the change in luteinizing hormone (LH) pulse amplitude after two weeks of treatment. Safety and adherence will be observed throughout the study, which is expected to last several weeks from screening to treatment completion.

Researchers are studying whether kisspeptin, a natural hormone, can stimulate the release of reproductive hormones in men and women with idiopathic hypogonadotropic hypogonadism (IHH). They are also exploring if kisspeptin can help women release eggs from their ovaries. This is a phase 2 clinical trial funded by the FDA Office of Orphan Products Development (OOPD). The trial aims to understand kisspeptin's effects on hormone release and ovarian function in this specific condition. Participants will receive kisspeptin administered subcutaneously through a pump that delivers the hormone in pulses every 60 to 240 minutes for two weeks. Before starting kisspeptin, some participants may receive a single injection of leuprolide acetate about six days earlier. Women will have pelvic ultrasounds to monitor follicle growth, and blood samples will be taken frequently during treatment to measure hormone responses. Optional extended blood sampling sessions may also occur before and after the two-week treatment. During the study, participants will undergo medical history reviews, physical exams, and screening lab tests. Women will have ultrasound scans to track follicular development, and all participants will have blood drawn every 10 minutes during certain sessions to assess luteinizing hormone activity. Researchers will measure changes in hormone pulse amplitude over two weeks and, for women, the presence of mature follicles or ovulation. The total participation timeline includes these assessments alongside kisspeptin administration and follow-up monitoring.

Researchers are investigating how environmental factors like pollution, chemical exposure, foods, medicines, and sleep habits may affect the endocrine and reproductive systems. The study focuses on individuals with hormone-related conditions such as hypogonadism, infertility, and other reproductive disorders. It aims to explore the possible links between internal and external environmental exposures and reproductive and endocrine dysfunction over time. Participants include males and females aged 8 years and older with various reproductive endocrine disorders, including polycystic ovary syndrome, hypogonadism, delayed or precocious puberty, and other related conditions. Children may participate until age 23, with up to 12 visits over five years, while adults may have 4 to 5 visits during the same period. During visits, participants undergo physical exams, blood and urine tests, questionnaires about diet and health, and sometimes additional tests like imaging scans or semen analysis. Throughout the study, researchers will collect data on body composition, resting energy expenditure, nutrition, stress, and psychological factors related to reproductive health. Most visits last less than three hours. The main goal is to assess how environment and lifestyle relate to reproductive neuroendocrinology at baseline and after clinical care. The study includes ongoing monitoring and data collection to better understand reproductive and endocrine health over time.

This research aims to evaluate the effects of olfactory training on persistent smell problems following COVID-19 infection. The study focuses on comparing the outcomes of two different sets of odors used in olfactory training over a 12-week period. Researchers will assess changes in smell function and related symptoms such as parosmia and phantosmia using various smell tests and questionnaires. Participants are randomly assigned to one of two groups: one group will smell four scents (rose, orange, clove, eucalyptus) twice daily for five minutes each session, and the other group will use a different set of four scents (cheese, coffee, strawberries, lemon) with the same schedule. The training lasts for 12 weeks. Initial and final meetings include detailed smell evaluations and questionnaires, with participants receiving instructions and a training kit at the start. During the study, participants will undergo smell tests including the UPSIT and Sniffin' Sticks, and complete questionnaires on the impact of smell dysfunction on quality of life. Researchers will also assess nasal obstruction and record symptoms of parosmia and phantosmia. Measurements are taken before and after the 12-week training. The total involvement includes an initial session, 12 weeks of home training, and a final evaluation session.

Researchers are studying the effects of olfactory training for patients with sensorineural olfactory dysfunction, such as those caused by infections, head injuries, or neurological diseases. This study aims to evaluate the treatment using aromatic substances delivered through a portable diffuser, building on previous findings in COVID-19 related smell loss. It focuses on the Hong Kong population and seeks to understand the impact of this training on patients with non-COVID-19 related olfactory issues. Participants will be randomly assigned to one of two groups: the treatment group receives olfactory training using four aromatic substances (Citrus limon, Eucalyptus radiata, Pelargonium graveolens, Juniperus virginiana) delivered via a diffuser, while the control group receives the same diffuser with normal saline instead of essential oils. Both groups will follow the same routine of 20 seconds per substance, repeated three times daily for three months. The study is double-blinded to keep both patients and doctors unaware of group assignments. During the study, participants will undergo smell assessments using the University of Pennsylvania Smell Identification Test (UPSIT) and Butanol Threshold Test (BTT). Quality of life will be measured with the Sino-Nasal Outcome Test (SNOT-22), and subjective smell and taste perceptions will be recorded using a Visual Analogue Scale (VAS). The primary outcomes measured after three months include changes in olfactory threshold, identification scores, quality of life, and taste and smell abilities. The study will run from July 2022 until June 2024 for patient recruitment, with follow-up assessments accordingly.