The Catalan Health Service, within the framework of the Development and implementation of the model of care for minority diseases in Catalonia, has designated Parc Taulí as an expert center of the "Network of Clinical Expertise Units in Genetically Based Behavioral Cognitive Behavioral Disorders in Pediatric Age" (XUEC) being, Parc Taulí, one of the coordinators in the process of attention to Sexual Cormosome Anomalies.
Sex chromosomes are primarily responsible for determining a person's sex, but they carry much more information. When we talk about sex chromosome abnormalities we refer to variations in the total number of sex chromosomes: the Y chromosome and the X chromosome. Thus, among others, the most common pathologies are Klinefelter's Syndrome, the double Y , Trisomy X, Turner Syndrome or variants thereof. These conditions fundamentally affect the reproductive capacity and the hormonal response of each sex, but may also associate other manifestations not related to sexual development, such as in the cognitive-behavioral environment.
This group of diseases have long been known with the first descriptions dating back to before the 50s. From the 60s onwards they are related to variations in sex chromosomes. The associated alterations have been progressively described and over time the importance of a multidisciplinary approach to the correct clinical management of these patients has been seen, including especially the control of learning development, currently underdiagnosed. For this reason, it has been decided to include sex chromosome abnormalities within the group of genetic-based cognitive-behavioral diseases in pediatrics, which are monitored by the centers of the network of clinical units of expertise (XUEC), which our center is one of the three integral centers.
Our center has extensive experience in the control of complex and multi-pathological patients and is committed to patient-centered care, in an integrated and multidisciplinary way, as has already been demonstrated in the management of other minority diseases.
The Sex Chromosome Anomalies Unit of the Parc Taulí Health Corporation is made up of a multidisciplinary healthcare team with a wide working trajectory that, with the commitment to offer excellent healthcare support to patients and their families, advocates for involvement in the acquisition of new knowledge with projection in the scientific advances of pathology.
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- Núria Capdevila
- Jacobo Pérez (Endocrinology)
- Raquel Corripio (Endocrinology)
- Carmen manso (Clinical Genetics)
- Concepción Escofet (Neuropediatrics)
- Lorena Jogà (Neuropsychology)
- Inés González (Clinical Psychology)
- Susanna Pujol (Clinical Psychology)
- Lara Magpie (Psychiatry)
- Silvia Teodoro (Cardiology)
- Jorge Palacios (Cardiology)
- Olga Giménez (Endocrinology)
- David Subias (Endocrinology)
- Emma Garcia (Gynecology)
- Laura Costa (Gynecology)
Pediatric and adult age
- Carmen manso (Clinical Genetics)
- Núria Capdevila (Genetic Advice)
- Snows Baena
- Anna Brunet
Jacobo Pérez Sánchez
Klinefelter's Syndrome affects boys who have an extra X chromosome on their sex chromosomes. This gives them a chromosomal endowment 47, XXY (being that of normal boys 46, XY). It is a fairly common condition (1 in 500-1000 boys may be affected) but its diagnosis is rare, as it often goes unnoticed.
The main condition is infertility, due to abnormal development of the testicle. Klinefelter's syndrome is the most common cause of infertility. But it can also be accompanied by learning difficulties that can benefit from early detection and action. There is an increased risk of developing autoimmune diseases or neoplasms.
One of the key control points is to start hormone treatment with testosterone when needed. Each patient may show different needs and the pubertal period is a crucial period to detect this need and ensure appropriate treatment.
Other variants of the syndrome are the so-called X polysomies, in which there are a greater number of X chromosomes (three or four) or even an extra Y chromosome (endowments 48, XXXY, 48, XXYY and 49, XXXXY). They are much less frequent variants but the manifestations are usually more serious. Recently in our center we have organized a collection of cases with these polysomies in order to characterize these less frequent variants with interesting results.
Double Y syndrome
Double Y Syndrome affects boys who carry an extra Y chromosome: chromosomal endowment 47, XYY. It can be as common as Klinefelter's syndrome (1 in 1000 boys), but it also goes unnoticed in most cases.
They are usually taller than peers and the rest of the family and may associate learning and attention problems with emotional difficulties even though they exhibit normal intelligence. Many of them have no fertility problems or sexual development.
Also known as Triple X syndrome, they are girls who have an extra X chromosome and therefore their chromosomal endowment is 47, XXX. It can be manifested by 1 in 1000 girls, but most do not know they have it because it does not give clinical manifestations.
They are usually girls taller than their peers and their family who may have learning difficulties. Sometimes the frequency of kidney problems or seizures is higher than in other girls. Many of them have no fertility problems or sexual development although some cases of early menopause have been found. Renal and cardiac assessment in early childhood is important, as well as early developmental monitoring in case early care is needed.
This syndrome affects girls who in their chromosome endowment have one X chromosome less in whole or in part. This absence of a chromosome can occur in all cells or only in a part of them (mosaicism). It is a rare condition, which can affect 1 in 2000 girls.
Turner syndrome can present with several manifestations at different levels, but rarely do they all occur. They are usually shorter girls (without treatment 140-145 cm) with internal genital problems (lack of proper development of the ovaries) which will imply the possibility of needing hormonal treatment during puberty. In many cases infertility is associated. They may have large skin folds, frequent otitis, and increased ease of suffering from kidney, heart, thyroid, scoliosis, or high blood pressure problems. It does not usually affect intelligence although they may have some learning difficulties related to non-verbal language.
Sometimes the diagnosis is prenatal, when performing a fetal karyotype for some reason or suspicion. In case of not diagnosing it prenatally, the diagnosis can be reached during the study of short stature or lack of pubertal development. Most diagnoses are made in childhood.
Short stature can be treated with the administration of growth hormone, necessary to ensure bone health. It is administered injected daily until the end of growth. During the biannual follow-up of hormone treatment, the endocrinologist assesses the occurrence of kidney, heart or thyroid problems in case you need to contact other specialists and monitors pubertal development in case you need hormonal help.
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- Characterization of the clinical phenotype of patients with polysomy of the sex chromosomes. Project initiated by the UEC of abnormalities of the sex chromosomes of the Parc Taulí following the request of the association of parents of patients of these diseases. Dra. C Escofet, Dr. J Perez, Dra. And Gabau.
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