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1.
Article in French | MEDLINE | ID: mdl-39288834

ABSTRACT

OBJECTIVE: The French Law relating to Bioethics allows access to medically assisted reproduction for lesbian couples and single women and has expanded the possibilities for self-preservation of gametes. The question now arises of new uses of gametes of the couple, within couples of two cis women, one cis woman and one transgender woman, or two transgender individuals. The acronym EUGIC (Extension of the Use of Gametes in IntraCouple) allows these new situations to be grouped together, particularly if gametes have already been previously cryopreserved, thus avoiding the need for gamete donation. METHODS: Analysis of the different situations of sperm use from a trans woman using gametes available within the couple rather than gamete donation. RESULTS: The inconsistency in the use of sperm from a trans woman, the situations already encountered by professionals, the prospects for filiation for a trans woman as well as the issues related to the interest of the unborn child are discussed. CONCLUSION: French law does not fully address the use of a trans woman's spermatozoa to meet the new EUGIC requirements and leads to complex situations for healthcare professionals.

2.
Article in French | MEDLINE | ID: mdl-38844060

ABSTRACT

The Centre de Référence sur les Agents Tératogènes (CRAT) is a unique French national reference center involved in the risk assessment of exogenous agents (mainly drugs, but also medical imaging and addictions) on pregnancy, breastfeeding and fertility. To help improve patient care, CRAT makes its expertise available to healthcare professionals via its website (www.lecrat.fr), a free, independent and public online resource regularly updated by its multidisciplinary team. In December 2023, a new version was launched, based on the evolutions desired by the CRAT team and on a satisfaction survey of website's users. A predictive search bar integrated into the home page now enables users to find the specific information they are looking for more quickly. To optimize the access via smartphones, a mobile version is now available.

3.
Bull Cancer ; 2024 Jun 24.
Article in French | MEDLINE | ID: mdl-38918137

ABSTRACT

Conditioning regimen prior to hematopoietic stem cell transplantation have an impact on patient fertility through the use of gonadal irradiation and/or bifunctional alkylating agents. Their impact on fertility depends mainly on the dose used and, in women, on age at the time of treatment. All patients should benefit before treatment from a consultation informing them of the potential impact on fertility and of fertility preservation techniques. In the absence of contraindications, the major toxicity of myeloablative conditioning regimen justifies fertility preservation. There are few data concerning fertility after reduced-intensity conditioning. Despite lower theoretical gonadotoxicity, we also recommend fertility preservation, if possible before transplantation. The fertility preservation techniques used depend on the patient's age, pathology and conditioning. In the event of subsequent use of harvested gonadal tissue in the context of acute leukemia or aggressive lymphoma, it is advisable to assess the risk of reintroduction of tumor cells. Finally, it is recommended to assess gonadal function after transplant, especially after reduced conditioning. If there is persistent residual gonadal function, post-treatment fertility preservation should be discuss.

4.
Therapie ; 2024 Apr 02.
Article in French | MEDLINE | ID: mdl-38609757

ABSTRACT

In preparation for a new version of the CRAT (Centre de référence sur les agents tératogènes) website, an evaluation of user satisfaction was carried out. An invitation to complete an online questionnaire covering the various dimensions of the website (appearance, content, interactivity, ease of use, technical performance) was sent in April 2022 to healthcare professionals who referred to CRAT for clinical expertise over the previous two years. After sending out 3224 individual e-mail invitations, 758 evaluators completed the questionnaire in full (response rate: 23.5%). The evaluation revealed a high-level of overall satisfaction among site users (98.0% very satisfied or satisfied). Satisfaction with the site's appearance was also high, although comments were made about the site's lack of a modern web design. Health professionals recognized in their responses the reliable, relevant and up-to-date nature of the content of this free, public online resource, independent of the pharmaceutical industry. On the basis of these highly favorable assessments, with content that has been widely acclaimed and areas for improvement that have caught the attention of site users (evolution of its appearance, of the search tool, implementation of a mobile site), a new version of www.lecrat.fr was launched in the fall of 2023.

5.
Bull Cancer ; 111(5): 463-472, 2024 May.
Article in French | MEDLINE | ID: mdl-38580527

ABSTRACT

INTRODUCTION: In France, the breast cancer is the most common cancer among women under the age of 40. From 38 to 70% of women have not fulfilled their parental plans at the time of diagnosis. The gonadotoxicity of the treatments and the follicular physiological decline linked to age can become an obstacle to this project. METHODS: Among the patients, 386 were treated for breast cancer at the Centre Georges-François-Leclerc in Dijon between January 2011 and December 2018 were identified. 192 patients aged under 39 met the inclusion criteria. We excluded metastatic cancers, cancer in situ and pregnant patients at diagnosis. A total of 124 patients agreed to participate in the study. The included patients filled out a self-questionnaire. Data were collected from the patient's electronic medical. The primary endpoint of this study was the live birth rate. RESULT: Among women who desired a child after breast cancer, the overall rate of live births was 36.2 % (21/58). Most achieved pregnancies were spontaneous (90.5 %). No factor was significantly associated with the absence of obtaining birth. Fertility was preserved by oocyte cryopreservation in 13.8 % of patients (17/124). The median time to conception in patients who received chemotherapy was 8 months [1.0-60.0] vs 2 months [1.0-7.0] in women who did not receive chemotherapy. DISCUSSION: The non-negligible proportion of live births following spontaneous pregnancy after breast cancer allows us to be reassuring for patients. However, the emergence of new chemotherapy protocols whose consequences on long-term gonadotoxicity are still not well known requires further studies and prompts the promotion of fertility preservation as a precautionary measure.


Subject(s)
Breast Neoplasms , Fertility Preservation , Live Birth , Humans , Female , Breast Neoplasms/drug therapy , Adult , Fertility Preservation/statistics & numerical data , Pregnancy , Live Birth/epidemiology , Cryopreservation , France/epidemiology , Oocytes , Antineoplastic Agents/adverse effects , Antineoplastic Agents/therapeutic use , Birth Rate , Time Factors
8.
Schweiz Arch Tierheilkd ; 166(3): 141-152, 2024 03.
Article in German | MEDLINE | ID: mdl-38419485

ABSTRACT

INTRODUCTION: Five cases of ovarian tumors (granulosa cell tumors) in cattle are presented from the patient load of the Vetsuisse University of Zurich and Bern. The aim of this work was to demonstrate the variable development of the illness and to indicate diagnostic and therapeutic possibilities to the practicing veterinarians. Case 1 shows bilateral appearance and the development of malignancy and metastases. The main symptoms in case 2 were the development of the mammary gland in a juvenile animal and the behavior modification due to a hormonal imbalance. The cases 3, 4 and 5 underwent surgery, case 4 restarted reproductive activity resulting in five subsequent pregnancies. The initial presumption is a result of a gynecological including ultrasonographic examination and can be verified by the analysis of Müllerian Inhibiting Hormone in serum. The decision to perform surgery should be done rapidly, as normal fertility can be achieved if the tumor is located unilaterally. Tumor growth and potential malignancy can provoke fatal health issues and also make it impossible to use meat of these animals for consumption.


INTRODUCTION: Cinq cas de tumeurs ovariennes (tumeurs des cellules de la granulosa) chez les bovins sont présentés à partir de la patientèle de l'Université Vetsuisse de Zurich et de Berne. Le but de ce travail était de montrer l'évolution variable de la maladie et d'indiquer les possibilités diagnostiques et thérapeutiques aux vétérinaires praticiens. Le cas 1 montre la possibilité d'une apparition bilatérale avec développement d'une tumeur maligne et de métastases. Les principaux symptômes du cas 2 étaient le développement de la glande mammaire chez un animal juvénile et la modification du comportement due à un déséquilibre hormonal. Les cas 3, 4 et 5 ont subi une intervention chirurgicale, le cas 4 a repris une activité de reproduction avec cinq gestations ultérieures. La présomption initiale résulte d'un examen gynécologique et peut être vérifiée par l'analyse de l'hormone anti-müllérienne dans le sérum. La décision d'opérer doit être prise rapidement, car une intervention chirurgicale pour enlever l'ovaire atteint peut, dans l'idéal, permettre une reprise de l'activité de reproduction. La croissance de la tumeur et la malignité potentielle peuvent provoquer des problèmes de santé fatals et rendre la viande de ces animaux impropre à la consommation.


Subject(s)
Cattle Diseases , Granulosa Cell Tumor , Ovarian Neoplasms , Female , Cattle , Animals , Granulosa Cell Tumor/diagnostic imaging , Granulosa Cell Tumor/surgery , Granulosa Cell Tumor/veterinary , Ovarian Neoplasms/diagnostic imaging , Ovarian Neoplasms/surgery , Ovarian Neoplasms/veterinary , Anti-Mullerian Hormone , Cattle Diseases/diagnostic imaging , Cattle Diseases/surgery
10.
Ann Chir Plast Esthet ; 68(5-6): 484-490, 2023 Nov.
Article in French | MEDLINE | ID: mdl-37423825

ABSTRACT

Oftentimes ignored or infrequently expressed, some transgender persons harbor a desire for parenthood. Given the evolution of medical techniques and the enacting of legislative reforms, it is henceforth possible to propose fertility preservation strategies in the overall context of gender transidentity. During the "female to male" (FtM) transition pathway, androgen therapy has an impact on gonadic function, generally inducing blockage of the ovarian function, with amenorrhea. Even though these events may be reversed on cessation of treatment, the possible long-term effects on future fertility and on the health of children yet to be born are little known. Moreover, transition surgeries definitively compromise the possibility of pregnancy insofar as they involve bilateral adnexectomy and/or hysterectomy. Options for fertility preservation in the framework of FtM transition are premised on cryopreservation of oocytes and/or ovarian tissue. In a comparable manner, even though relevant documentation is lacking, hormonal treatments for persons transitioning from male to female (MtF) can have an impact on future fertility. In the event of surgery involving bilateral orchidectomy in which spermatozoid cryopreservation has not been carried out, fertility is definitively impossible. In both cases and under present-day legislation, numerous legal and regulatory barriers render highly problematic the reutilization of cryopreserved gametes. Given these different constraints, it is indispensable to closely supervise these types of treatment by proposing psychological support.


Subject(s)
Fertility Preservation , Transgender Persons , Child , Humans , Male , Female , Fertility Preservation/methods , Fertility Preservation/psychology , Cryopreservation/methods , Transgender Persons/psychology
11.
Ann Endocrinol (Paris) ; 84(3): 382-387, 2023 May.
Article in English | MEDLINE | ID: mdl-36967045

ABSTRACT

Chemotherapy to treat cancer is usually responsible for early ovarian follicle depletion. Ovarian damage induced by cancer treatments frequently results in infertility in surviving patients of childbearing age. Several fertility preservation techniques have been developed. Nowadays, oocyte or embryo cryopreservation with or without ovarian stimulation and cryopreservation of the ovarian cortex are the most commonly used. However, these methods may be difficult to implement in some situations, and subsequent use of the cryopreserved germ cells remains uncertain, with no guarantee of pregnancy. Improved knowledge of the molecular mechanisms and signaling pathways involved in chemotherapy-induced ovarian damage is therefore necessary, to develop new strategies for fertility preservation. The effects of various chemotherapies have been studied in animal models or in vitro on ovarian cultures, suggesting various mechanisms of gonadotoxicity. Today the challenge is to develop molecules and techniques to limit the negative impact of chemotherapy on the ovaries, using experimental models, especially in animals. In this review, the various theories concerning ovarian damage induced by chemotherapy will be reviewed and emerging approaches for ovarian protection will be explained.


Subject(s)
Fertility Preservation , Ovary , Pregnancy , Animals , Female , Ovarian Follicle , Oocytes , Fertility Preservation/methods , Cryopreservation/methods
12.
Gynecol Obstet Fertil Senol ; 51(7-8): 378-383, 2023.
Article in French | MEDLINE | ID: mdl-36931597

ABSTRACT

While electronic cigarettes have been on the rise in France for the past ten years, data on their prevalence, use patterns and safety have remained fragmented and controversial. Electronic cigarettes seem to not be a harmless product to use, because although they contain fewer harmful substances than traditional cigarettes, they still contain toxic products such as endocrine disruptors, which appear to have a negative impact on hormonal homeostasis, morphology and functioning of the animal reproductive system. Mostly presented as a harmless alternative to traditional cigarettes by industry lobbies, electronic cigarettes are often offered as an aid to smoking cessation in the same way as nicotinic substitutes. This strategy is especially proposed without knowledge of its effects on human reproductive health. Indeed, there are currently very few scientific publications, which study the impact of the use of electronic cigarettes, nicotine and the vapours it delivers on fertility and the functioning of the human female and male reproductive systems. Thus, the great majority of the data we have to date come from studies carried out in animal populations and show that electronic cigarettes exposure affect fertility. There is, to our knowledge, no scientific publication on the results in Assisted Reproductive Technology in case of use of electronic cigarettes, motivating the realization of the study IVF-VAP currently underway in the department of Medicine and Biology of Reproduction of the Amiens Picardie University Hospital.


Subject(s)
Electronic Nicotine Delivery Systems , Smoking Cessation , Humans , Male , Female , Smoking Cessation/methods , Nicotine , Tobacco Use Cessation Devices , Fertility
13.
Praxis (Bern 1994) ; 112(4): 218-222, 2023.
Article in German | MEDLINE | ID: mdl-36919313

ABSTRACT

When to Stop Contraception - Reasons and Consequences of Delaying Parenthood Abstract. Women are delaying motherhood for many reasons. However, knowledge on age-related decline of fertility is limited. Many patients and even physicians are not aware that female fertility starts to diminish significantly after the age of thirty-two years, and success rates of in vitro treatment are overestimated in the general population. Apart from maternal age there is no predictor for future fecundity. Physicians should actively discuss reasons for delaying motherhood and options for improving fecundity. During the reproductive life span, women need reliable counselling on contraception and fertility.


Subject(s)
Contraception , Fertility , Humans , Female , Adult , Counseling
14.
Gynecol Obstet Fertil Senol ; 50(12): 797-804, 2022 12.
Article in French | MEDLINE | ID: mdl-36183988

ABSTRACT

The evolution of medical techniques as well as legislative changes currently allow to propose fertility preservation strategies in the context of transidentity. During "female to male" transition, androgen therapy has an impact on gonadal function since it usually induces a blockage of ovulation with amenorrhea. Although this effect is reversible when treatment is stopped, the possible long-term effects of testosterone treatment on future fertility or health of future children are poorly known. In addition, transitional surgeries definitely compromise fecundity when they include bilateral ovariectomy and/or hysterectomy. Yet, although long ignored or poorly expressed, the desire for parenthood is a reality in transgender men. Fertility preservation options in FtM transition rely on oocyte or ovarian tissue cryopreservation. The purpose of this review is to provide an overview of the literature regarding fertility preservation in transgender men. Although series remain limited, the increase in the number of recently published articles reflects the interest in improving the management of fertility issues in transgender men.


Subject(s)
Fertility Preservation , Infertility , Male , Female , Humans , Fertility Preservation/methods , Cryopreservation/methods , Oocytes , Ovariectomy
15.
Gynecol Obstet Fertil Senol ; 50(12): 788-796, 2022 12.
Article in French | MEDLINE | ID: mdl-36150648

ABSTRACT

Transgender patients are at increased risk of cancer, sexually transmitted diseases, short- and long-term postoperative complications in patients with vaginoplasty, but also unwanted pregnancy in non-hysterectomized trans men. However, access to care is often difficult for these patients, who often do not benefit from appropriate gynecological monitoring, especially for fear of judgment or discrimination. In view of the health risks of these patients, it is essential to be able to offer them specific and adapted gynecological follow-up. To date, there are no clear recommendations regarding the gynecological follow-up of transgender patients. We relied on the recommendations of the World Professional Association of Transgender Health (W-PATH) and the Endocrine Society Guideline and performed a literature review. We carried out several searches via pubmed in order to explore one by one the different aspects of gynecological follow-up, in particular of non-hysterectomized transgender men and transgender women with a vaginoplasty. It emerges from this a lack of follow-up of transgender people, with a reluctance to consult a gynecologist, associated with the lack of knowledge and experience of health professionals. Due to the risks identical to those of the general population, added to those specific to transgender people, it is important to be able to offer these patients specialized and personalized gynecological follow-up, and to raise awareness and train health professionals on the importance of and the specificities of the gynecological follow-up of these patients.


Subject(s)
Gynecology , Sexually Transmitted Diseases , Transgender Persons , Male , Humans , Female , Follow-Up Studies , Sexually Transmitted Diseases/epidemiology , Global Health
16.
Schweiz Arch Tierheilkd ; 164(9): 645-659, 2022 Sep.
Article in German | MEDLINE | ID: mdl-36047820

ABSTRACT

INTRODUCTION: Fertility problems are the main reasons for culling dairy cows. Diseases of the female genital tract are also often the cause of antibiotic or hormonal treatments in bovine practices. The use of medicinal plants could expand the available therapeutics. The aim of the work was to analyze historical literature before the introduction of antibiotics in veterinary reproductive medicine. Five books in German language, published in Germany and Switzerland between 1878 and 1921, and one handwritten therapy booklet by the rural veterinarian Carl Ammann-Honegger (1879-1960) were systematically examined regarding the descriptions (AW) on gynecological diseases. The herbal and additional ingredients of the recipe, the target animal species, the type of administration and the indication were recorded in detail for each AW. The six literature sources contained a total of 103 AW (79 administered orally, 13 locally, and 11 both orally and locally). Almost two thirds of the AW (61) were based on a mixture of different plants (two to seven plants), and one third of the AW (31) on a single plant. A total of 55 plants were recorded. The most frequently mentioned medical plants were plants of the genus Juniperus (J. communis L. (19 AW), J. sabina L. (13 AW)) and Linum usitatissimum L. (18 AW), Matricaria chamomilla L. (13 AW) and Gentiana lutea L. (12 AW). The treatment of the Retentio secundinarum was the most frequently mentioned indication (44 AW), followed by parturition preparation (17 AW) and endometritis treatment (15 AW). The most frequently recorded plants can be divided based on their ingredients and their effect into (a) energy- and protein-rich forage plants, (b) generally appetizing, digestive- and metabolism-enhancing plants, (c) medical plants with a specific gynecological organotrophic effect and (d) according to current knowledge, predominantly toxic plants. Besides the antimicrobial active immunity to defence against bacterial infections, a stable barrier funcion of the endometrium contributes to uterine health. The plants classified under (a) - (c) have at least the potential for a positive effect on the immune system and the endometrial barrier function and thus contribute indirectly to the uterine health.


INTRODUCTION: Les problèmes de fertilité sont les principales raisons de la mise à la réforme des vaches laitières. Les maladies de l'appareil génital femelle sont également souvent à l'origine de traitements antibiotiques ou hormonaux dans les pratiques bovines. L'utilisation de plantes médicinales pourrait élargir les thérapeutiques disponibles. L'objectif de ce travail était d'analyser la littérature historique avant l'introduction des antibiotiques en médecine de la reproduction vétérinaire. Cinq livres en langue allemande, publiés en Allemagne et en Suisse entre 1878 et 1921, et un livret thérapeutique écrit à la main par le vétérinaire rural Carl Ammann-Honegger (1879­1960) ont été systématiquement examinés en ce qui concerne les descriptions d'utilisation (AW) sur les maladies gynécologiques. Les herbes et les ingrédients supplémentaires de la recette, l'espèce animale cible, le type d'administration et l'indication ont été enregistrés en détail pour chaque AW. Les six sources de littérature contenaient un total de 103 AW (79 administrées par voie orale, 13 par voie locale et 11 par voie orale et locale). Près de deux tiers des AW (61) étaient basés sur un mélange de différentes plantes (deux à sept plantes), et un tiers des AW (31) sur une seule plante. Au total, 55 plantes ont été enregistrées. Les plantes médicinales les plus fréquemment mentionnées étaient les plantes du genre Juniperus (J. communis L. (19 AW), J. sabina L. (13 AW)) et Linum usitatissimum L. (18 AW), Matricaria chamomilla L. (13 AW) et Gentiana lutea L. (12 AW). Le traitement du Retentio secundinarum a été l>indication la plus fréquemment mentionnée (44 AW), suivie de la préparation à la parturition (17 AW) et du traitement de l>endométrite (15 AW). Les plantes les plus fréquemment enregistrées peuvent être divisées, en fonction de leurs composants et de leurs effets, en (a) plantes fourragères riches en énergie et en protéines, (b) plantes généralement appétissantes, favorisant la digestion et le métabolisme, (c) plantes médicinales ayant un effet organotropique gynécologique spécifique et (d) selon les connaissances actuelles, plantes principalement toxiques. Outre l'effet antimicrobien, une capacité de défense stable de l'endomètre contribue à la santé utérine. Les plantes classées sous (a) - (c) ont au moins le potentiel d'un effet positif sur le système immunitaire et la fonction de défense de l'endomètre et contribuent ainsi indirectement à la santé utérine.


Subject(s)
Anti-Infective Agents , Cattle Diseases , Plants, Medicinal , Animals , Anti-Infective Agents/therapeutic use , Cattle , Cattle Diseases/drug therapy , Female , Fertility , Germany , Phytotherapy/veterinary
17.
Gynecol Obstet Fertil Senol ; 50(10): 682-688, 2022 10.
Article in French | MEDLINE | ID: mdl-35750197

ABSTRACT

Many health care professionals are dealing with the issue of transgender people in their medical practice. In the field of reproduction, Trans people can benefit from fertility preservation before the introduction of hormonal treatment or surgery altering their fertility. This article, which is the result of a collaborative work of several reproductive professionals involved in the health of Trans people, provides an overview of the possibilities of fertility preservation and medically assisted reproduction techniques in France for Trans people.


Subject(s)
Fertility Preservation , Transgender Persons , Fertility , Fertility Preservation/methods , Humans , Reproduction , Reproductive Techniques, Assisted
18.
Ann Endocrinol (Paris) ; 83(4): 254-257, 2022 Aug.
Article in English | MEDLINE | ID: mdl-35750201

ABSTRACT

Reproduction and metabolism are intricately linked. Gut hormones play key roles in the regulation of body weight and glucose homeostasis, factors that influence the functioning of the hypothalamic-pituitary-gonadal axis and reproductive outcomes. Data from rodent models suggest gut hormones may have direct stimulatory effects on reproductive hormone release. However, the effects of gut hormones on reproductive function in humans are more complex, with possible involvement of direct (e.g. via gut hormone receptor agonism) as well as indirect (e.g. via weight reduction in people with obesity) mechanisms. The use of gut hormone receptor agonists has become an integral part of the management of metabolic diseases (including obesity and type 2 diabetes), with additional indications for their use on the horizon. Future work may identify specific roles for gut hormone receptor agonists in the treatment of reproductive co-morbidities that are increasingly being recognised in people with metabolic diseases.


Subject(s)
Diabetes Mellitus, Type 2 , Gastrointestinal Hormones , Diabetes Mellitus, Type 2/drug therapy , Diabetes Mellitus, Type 2/metabolism , Gastrointestinal Hormones/metabolism , Gastrointestinal Hormones/pharmacology , Glucagon-Like Peptide 1/metabolism , Humans , Obesity/metabolism , Peptide YY/metabolism , Reproduction/physiology
19.
Ann Endocrinol (Paris) ; 83(3): 172-176, 2022 Jun.
Article in English | MEDLINE | ID: mdl-35526602

ABSTRACT

Patients with a Klinefelter syndrome (KS), defined by a 47 XXY karyotype, were long considered infertile. Testicular sperm extraction (TESE) now allows them to access fatherhood. We will present the data of studies since first experiment of TESE. Several factors influencing TESE outcome were proposed in these different studies. Among them, clinical and hormonal parameters have reported by few studies, age has been one of the most discussed prognostic factor of positive sperm retrieval rate. Data seems to show that TESE carried out before an age greater than 30 has a poorer prognosis for positive sperm retrieval. In few studies performed in younger patient, before 20 years, SRR was closed to result for 20 to 30 year old patients. Offering a TESE before 16 years old does not improve positive sperm extraction rate. In fact, the few studies carried out before the age of 16 were of poorer prognosis, most often linked to insufficient maturation of the residual gametes. In addition, androgen therapy, frequently prescribed in case of Klinefelter syndrome, did not seem to show any effect on sperm retrieval but only few studies were interested in the possible impact of this treatment. In conclusion, further studies are necessary to determine the interest of new markers to predict the chance of sperm retrieval, taking into account age, hormonal therapy.


Subject(s)
Azoospermia , Klinefelter Syndrome , Adolescent , Adult , Fertility , Humans , Klinefelter Syndrome/complications , Klinefelter Syndrome/therapy , Male , Retrospective Studies , Sperm Retrieval , Spermatozoa , Testis , Young Adult
20.
Ann Endocrinol (Paris) ; 83(3): 203-206, 2022 Jun.
Article in English | MEDLINE | ID: mdl-35489412

ABSTRACT

Noonan syndrome (NS) is a relatively common developmental disorder characterised by the association of craniofacial abnormalities, congenital heart defects, short stature and skeletal abnormalities, variable developmental delay/learning disability, and predisposition to certain cancers. NS is caused by germline mutations in genes encoding components or regulators of the RAS/mitogen-activated protein kinase (MAPK) signaling pathway. Although abnormalities in the hypothalamic-pituitary-gonadal axis have long been reported in NS patients, there is only scarce published data on this subject. Puberty is usually delayed of about two years for both boys and girls with NS. However, in the majority of patients, it starts spontaneously suggesting a normal hypothalamic - pituitary input. The lower fat mass usually observed in NS patients may influence the timing of puberty. Although there is almost no reliable data on this issue, it is usually considered that fertility is not affected in NS females. In contrast, primary testicular insufficiency, predominant on Sertoli cell function, is reported in NS males. However, the exact frequency of infertility in adult males is unknown. More generally, although the features of NS are well described during childhood, little is known about the progression of the disease in adulthood. Prospective long-term follow-up studies are required to further investigate gonadal function and fertility in NS adults and to clarify the long-term follow-up of these patients.


Subject(s)
Noonan Syndrome , Adult , Female , Germ-Line Mutation , Gonads , Humans , Male , Mutation , Noonan Syndrome/genetics , Prospective Studies , Puberty
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