The following article comes from the obstetrics and gynecology hospital affiliated to Fudan University, the author Ma Lingwei
Ms. Zhang’s daughter Xiao Lei is 15 years old, but she has not had a tide of menstruation. Ms. Zhang felt wrong. On this day, she took Xiao Lei to seek medical treatment.The doctor gave Xiaolei detailed physical examination, hormone testing and nuclear analysis.The physical examination found that Xiao Lei did not have a second sexual development, and there was no development of armpit hair, pubic hair and breasts.The FSH, LH, E2 and P in the sex hormone report are lower than the normal level, but the chromosome nuclear analysis has no abnormalities (46, xx).
The experienced doctors further asked how Xiao Lei smells. Xiao Lei said that he didn’t care too much. He felt that he had chronic rhinitis and couldn’t smell any taste, but he hadn’t seen it.Therefore, the doctor arranged Xiao Lei to do a sense of smell, and found that Xiao Lei was a lack of smell, which means that Xiao Lei had no sense of smell from childhood to large.In the end, the doctor suggested that Xiaolei do a genetic test auxiliary diagnosis, so the doctor initially believes that Xiao Lei is a disease?What is the relationship between menstruation and lack of smell?
In fact, Xiao Lei suffered from the Karman syndrome.
What is Karman syndrome?
Kallmann Syndrome (KS) is a type of hypotomastic gonadotropic hormone sexual dysfunction. This disease is caused by gonadotinopopotenopopulotrophoids.Diseases are manifested in infertility, adolescents, or partial development.
According to reports, the incidence of male syndrome is 1: 10000, and the incidence of women is more rare. It is 1: 50000 . The genetic method mainly includes X-chain hidden inheritance, autosomal explicit inheritance and hidden genetic inheritance.Some patients are new mutations .
Due to the lack of corresponding hormones, the Karman syndrome will lead to delay or lack of secondary sexual development, reduced fertility and reduced bone density.Male patients may also be manifested as short penis, small testicles, cryptopatis or no sperm. Female patients are primary amenorrhea, dysplasia of breasts, and naive vulva.Due to sexual hormone deficiency, patients are usually accompanied by bone healing delay and backward bone age, which is susceptible to osteoporosis.In addition, it is a typical symptom with a genetic disease with loss of smell or olfactory development or other malformations.
The second sexual development is delayed, the sense of smell is lost, and the ability to have no fertility has been deprived of the youth of the patient.
Can patients with Karman syndrome come to menstruation?
Yes, but the help of a doctor.
Because the patient’s ovarian and uterine development are normal, it is caused by the abnormal development of GNRH neuron in the brain in the brain in the brain.Therefore, in order to promote adolescence development, estrogen hormone sequencing is used, also called artificial cycle to simulate the process of changing estrogen hormone changes in normal menstrual cycles, similar to normal adolescence start to promote growth and development and secondary development.However, if the patient has a late consultation, lacks of large doses of estrogen, and the bone bone closure is delayed, the patient can manifest itself as a tall body, even 185cm.
More importantly, in order to avoid the impact of decreased sex hormone levels on bone health, it is recommended to regularly monitor bone density. In addition to supplementing hormones, calcium and vitamin D should also be consumed in an appropriate amount.
Can patients with Karman syndrome be given birth?
Yes, you also need the help of a doctor.
Promoting gonad development through drug treatment, about 50%of patients can regain fertility.If there is a fertility plan, most patients can choose to conceive through ovulation treatment. If the man is merged, you can also choose to auxiliary reproductive technology, such as fertilization-embryo transplantation (IVF-ET, commonly known as IVF).
But unfortunately, the damage of the olfactory nerve is irreversible and can no longer be recovered.
The subsequent Xiaolei’s genetic test found the genetic mutation of FGFR1, which was the pathogenic gene of the Carman syndrome.Ms. Zhang asked the doctor. What should I do if Xiao Lei grows up when she grows up?The doctor suggested that Xiao Lei can conduct genetic consultation.
Rare disease, you are not alone
In the recently -held infertility and related diseases in our hospital, in the standardized diagnosis and treatment of related diseases, and progress, we invited a patient to share his experience. He is also the initiator of a Karman syndrome public welfare organization.Many patients, like him, have traveled many departments of many hospitals during the long consultation process. The orrology, urology, reproductives, traditional Chinese medicine, blood department … There are countless doctors who have seen, but few people have heard of it.The name of this disease.Most patients have been diagnosed with the average age of 28 years, and the adolescence of normal children has been postponed for more than 10 years. How can the youth they disappear to make up for?
It is undoubtedly the shortcomings of life.Fortunately, although the delayed youth is regrettable, it can still have a rich fruit and get a richer life experience.We hope that through the efforts of doctors and friends, we call on the attention of more society to help more Karman syndrome patients discover early treatment early.
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 Tang Ruiyi, Ma Miao, Chen Rong. Women’s unique low-promoting gonadotropic gonadotropic gonadotropic dysfunction diagnosis and treatment of new progress in modern obstetrics and gynecology [J]. 2018, 27 (12): 942-4.
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Author introduction: Lingwei
A physician at the obstetrics and gynecology hospital affiliated to Fudan University, the research direction is the clinical and basic study of reproductive endocrine.
Expert introduction: Xia Hexia
Deputy chief physician, doctor of obstetrics and gynecology, master -aid, visiting scholar at the Harvard Medical College Bresen Women’s Hospital.Good at: minimally invasive surgical treatment of reproductive endocrine disease, endometriosis and gynecological and malignant diseases.
Review expert: Zhang Wei
The deputy director, professor, chief physician, and blog director of gynecological endocrinology and reproductive medical department.Gynecological endocrine and infertility have rich experience in the diagnosis and treatment of complex diseases. They are good at adolescence abnormalities, amenorrhea, menstrual disorders, polycystic ovarian syndrome, high prolactin ledis, premature ovarian failure, perinatal period syndrome,Diagnosis and treatment of dysmenorrhea, endometriosis, recurrent abortion and other diseases.