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Study Question: Is there an added diagnosis value of buccal cell FISH analysis compared with blood lymphocyte chromosomal investigations in patients with Turner syndrome (TS)?Summary Answer: Buccal cell FISH analysis, a non-invasive technique, modified the chromosomal results obtained with the blood karyotype in 17 patients (12%) of our cohort.What Is Known Already: Few studies have evaluated buccal cell FISH analysis and compared them with blood karyotype in patients with TS.Study Design, Size, Duration: A prospective, monocentric cohort study was conducted in a rare diseases centre (CMERC) between July 2017 and August 2019.Participants/materials, Setting, Methods: In total, 142 adult patients with TS, and at least 5% 45,X cells in a previous blood karyotype, were recruited. All the patients' files were included in the CEMARA database. This national database has been declared to the French data protection agency (CNIL approval number 1187326). In compliance with French law, consent regarding non-opposition to collect and use the data was obtained from each patient. A FISH analysis on a buccal smear was performed.Main Results and the Role Of Chance: The percentage of 45,X cells was identical between the two tissues in only 32.4% of cases. The discrepancy was higher than 41% for 12% of the cohort. The percentage of 45,X cells was higher in blood in 53 (37.3%) patients, and higher in buccal cells in 43 (30.3%) of cases. In 17 (12%) cases, the blood karyotype had to be reconsidered in regard to the buccal cell analysis.Limitations, Reasons For Caution: It would have been interesting to evaluate karyotypes in cells from other tissues such as cells from skin biopsy or from the urinary tract and even from blood vessels or gonads in case of surgery and to compare them with each patient's phenotype. However, most of the time, these tissues are not available.Wider Implications Of the Findings: Although blood lymphocyte karyotype remains the gold standard for the diagnosis of TS, buccal cell FISH analysis is an efficient tool to evaluate the global chromosomal constitution in these patients, thus allowing them to have better care and follow-up. For instance, identifying a Y chromosome can prevent the occurrence of a gonadoblastoma, as gonadectomy should be discussed. On the other hand, finding normal XX cells in a patient with a previous diagnosis of homogenous 45,X TS, may be psychologically helpful and relevant for gynaecological care.Study Funding/competing Interest(s): No specific funding was sought for the study. The authors declare no competing interests.Trial Registration Number: N/A. [ABSTRACT FROM AUTHOR]

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Study Question: What are the consequences of radioactive iodine (RAI) therapy for testicular function?Summary Answer: A single activity of 3.7 GBq RAI for differentiated thyroid carcinoma (DTC) treatment in young men transiently altered Sertoli cell function and induced sperm chromosomal abnormalities.What Is Known Already: Few studies, mainly retrospective, have reported the potential impacts of RAI on endocrine and exocrine testicular function.Study Design, Size, Duration: A longitudinal prospective multi-center study on testicular function performed in DTC patients before a single 131I ablative activity of 3.7 GBq (V0) and at 3 months (V3) and 13 months (V13) after treatment.Participants/materials, Setting, Methods: Forty male patients, aged 18-55 years, with DTC participated. Hormonal analysis included FSH, LH, testosterone and inhibin B serum levels at V0, V3 and V13. Furthermore, sperm parameters, DNA fragmentation and sperm chromosomal abnormalities were evaluated at each time points. The differences in all parameters, between V0-V3, V0-V13 and V3-V13, were analyzed, using a Wilcoxon test.Main Results and the Role Of Chance: Prior to RAI administration, all patients had normal gonadal function. At V3, a statistically significant increase in FSH levels and a decrease in inhibin B levels were observed and sperm concentration, as well as the percentage of morphologically normal spermatozoa, were significantly decreased (P < 0.0001). These modifications were transient as both sperm concentration and normal morphology rate returned to baseline values at V13. However, at this later time point, FSH and inhibin B levels were still impacted by RAI administration but remained in the normal range. Although no DNA fragmentation was observed at V3 nor V13, our study revealed a statistically significant increase in the number of sperm chromosomal abnormalities both at V3 (P < 0.001) and V13 (P = 0.01).Limitations, Reasons For Caution: Among the 40 patients included in the study, only 24 had all the parameters available at all visits.Wider Implications Of the Findings: Prospective studies with longer term follow up would be helpful to determine whether the chromosome abnormalities persist. These studies would be required before sperm banking should be suggested for all patients. However, sperm preservation for DTC patients who require cumulative radioiodine activities higher than 3.7 GBq should be proposed.Study Funding/competing Interest(s): This study was supported by the Programme Hospitalier de Recherche Clinique, AP-HP (No. P040419). The authors report no conflict of interest in this work.Trial Registration Number: NCT01150318. [ABSTRACT FROM AUTHOR]

DAX1/NR0B1 mutations are responsible for X-linked congenital adrenal hypoplasia (AHC) associated with hypogonadotropic hypogonadism (HH). Few data are available concerning testicular function and fertility in men with DAX1 mutations. Azoospermia as well as failure of gonadotrophin treatment have been reported. We induced spermatogenesis in a patient who has a DAX1 mutation (c.1210C>T), leading to a stop codon in position 404 (p.Gln404X). His endocrine testing revealed a low testosterone level at 1.2 nmol/l (N: 12–40) with low FSH and LH levels at 2.1 IU/l (N: 1–5 IU/l) and 0.1 IU/l (N: 1–4 IU/l), respectively. Baseline semen analysis revealed azoospermia. Menotropin (Menopur®:150 IU, three times weekly) and human chorionic gonadotrophin (1500 IU, twice weekly) were used. After 20 months of treatment, as azoospermia persisted, bilateral multiple site testicular biopsies were performed. Histology revealed severe hypospermatogenesis. Rare spermatozoa were extracted from the right posterior fragment and ICSI was performed. Four embryos were obtained and, after a frozen–thawed single-embryo transfer, the patient's wife became pregnant and gave birth to a healthy boy. We report the first case of paternity after TESE–ICSI in a patient with DAX1 mutation, giving potential hope to these patients to father non-affected children. Furthermore, this case illustrates the fact that patients with X-linked AHC have a primary testicular defect in addition to HH. [ABSTRACT FROM PUBLISHER]

Presents a study that investigated the X chromosome and ovarian function. Information on female infertility and ovarian failure; Analysis of cytogenetic abnormalities and impaired ovarian development; X-linked genes involved in ovarian and oocyte development.

The roles of oestradiol, inhibin A and inhibin B in the luteal-follicular transition were assessed by means of specific assays. Six premenopausal women were studied during a control and then a cycle treated with percutaneous oestradiol 0.1 mg/day from day 10 after the luteinizing hormone (LH) surge until day 4 of the following cycle. Inhibin A concentrations decreased similarly in control and treated cycles from day -5 to day 2, then increased in control cycle to 23.3 +/- 3.4 pg/ml on day 10 (mean +/- SEM). They remained low until day 5 in treated cycles and were lower than controls on day 10 (P < 0.01). Follicle stimulating hormone (FSH) concentrations increased on day 1 in controls and on day 5 in treated cycles when oestradiol concentration fell abruptly. Inhibin B concentrations remained low until day 1 in controls and day 4 in treated cycles. In both, inhibin B concentrations increased 1 day after FSH, peaking at 160 pg/ml. FSH concentrations began to plateau when inhibin B concentrations were >100 pg/ml and oestradiol concentrations below 200 pmol/l. These data suggest that inhibin A is not responsible for FSH suppression in the luteal phase and that the negative control of FSH shifts from oestradiol in the luteal phase to inhibin B in the mid-follicular phase. [ABSTRACT FROM AUTHOR]

The roles of oestradiol, inhibin A and inhibin B in the luteal–follicular transition were assessed by means of specific assays. Six premenopausal women were studied during a control and then a cycle treated with percutaneous oestradiol 0.1 mg/day from day 10 after the luteinizing hormone (LH) surge until day 4 of the following cycle. Inhibin A concentrations decreased similarly in control and treated cycles from day –5 to day 2, then increased in control cycle to 23.3 ± 3.4 pg/ml on day 10 (mean ± SEM). They remained low until day 5 in treated cycles and were lower than controls on day 10 (P < 0.01). Follicle stimulating hormone (FSH) concentrations increased on day 1 in controls and on day 5 in treated cycles when oestradiol concentration fell abruptly. Inhibin B concentrations remained low until day 1 in controls and day 4 in treated cycles. In both, inhibin B concentrations increased 1 day after FSH, peaking at 160 pg/ml. FSH concentrations began to plateau when inhibin B concentrations were >100 pg/ml and oestradiol concentrations below 200 pmol/l. These data suggest that inhibin A is not responsible for FSH suppression in the luteal phase and that the negative control of FSH shifts from oestradiol in the luteal phase to inhibin B in the mid-follicular phase. [ABSTRACT FROM PUBLISHER]

Résumé La prolactine est une hormone majeure de l’axe gonadotrope. En effet, son élévation induit une baisse des gonadotrophines et donc une insuffisance gonadotrope. Elle doit donc être suspectée devant des anomalies du cycle menstruel, une galactorrhée ou une infertilité. Si la prise de médicaments et/ou l’adénome à prolactine représentent les deux principales étiologies d’hyperprolactinémie, il est nécessaire de connaître les autres étiologies possibles et surtout les pièges à éviter dans la démarche diagnostique d’une hyperprolactinémie. Après avoir éliminé une grossesse, chez la femme en âge de procréer, la découverte d’une hyperprolactinémie doit être interprétée en fonction tout d’abord du type de dosage utilisé. En effet, la forme majoritaire de prolactine est la forme non glycosylée, d’un poids moléculaire de 23 kDA. Elle représente la forme active de la prolactine. Certains dosages mesurent non seulement cette forme active mais aussi une autre forme de prolactine, appelée macroprolactine. Cette molécule formée d’une prolactine glycosylée couplée à une immunoglobuline est une forme de prolactine non active. Cette immunoglobuline est le plus souvent de type IgG mais parfois de type IgA. Sa présence dans le sérum peut donner une fausse élévation du taux de prolactine, en général inférieure à 100 ng/mL. Sa présence ne nécessite pas d’IRM hypophysaire, pas de traitement ni de suivi. Elle doit être particulièrement évoquée en l’absence de troubles du cycle. La prise de médicaments hyerprolactinémiants donne un taux de prolactine, le plus souvent inférieur à 100 ng/mL. Si le taux de prolactine est supérieur à 250 ng/mL, il s’agit dans la majorité des cas d’un macro-adénome hypophysaire. S’il est compris entre 100 et 250 ng/mL, il s’agit plutôt d’un micro-adénome ou d’un macro-adénome nécrosé. Un adénome mixte PRL/GH doit toujours être suspecté. Une hyperprolactinémie inférieure à 150 ng/mL, avec un volume tumoral important doit faire suspecter une hyperprolactinémie de déconnexion par compression de la tige pituitaire, soit par une tumeur de la région hypothalamo-hypophysaire, soit par une infiltration de la tige ou un effet crochet. L’IRM hypophysaire est nécessaire. Une sécrétion ectopique de prolactine reste exceptionnelle. Une nouvelle étiologie d’hyperprolactinémie est la présence d’une mutation perte de fonction du récepteur de la prolactine. Prolactin is a major hormone, involved in gonadotroph axis regulation. Hyperprolactinemia induces gonadotropin deficiency and therefore hypogonadotropic hypogonadism. It should be suspected in front of menstrual cycle abnormalities, infertility and/or galactorrhea. If drugs and/or PRL adenoma represent the vast majority of causes of hyperprolactinemia, other etiologies and misleading diagnosis of hyperprolactinemia should be searched for. After eliminating a pregnancy, in women of childbearing age, the first step is to interpret the result of hyperprolactinemia, according to the assay technique used. Indeed, the major active form of prolactin is the 23 kDA non-glycosylated prolactin. However, some assays interfere with macroprolactinemia, an inactive form of prolactin, including glycosylated prolactin bound to an IgG immunoglobulin. Its presence in the serum is misleading as it may induce increased levels of prolactin, usually below 100 ng/mL. The diagnosis of macroprolactinemia has major issues as pituitary MRI does not need to be performed. Furthermore, neither treatment nor follow-up of patients with macroprolactinemia are necessary. It should be suspected in the presence of normal menstrual cycles. Drugs inducing hyperprolactinemia usually raise prolactin levels below 100 ng/mL. If prolactin level is higher than 250 ng/mL, the main diagnosis is pituitary macro-adenoma. If prolactin ranges between 100 and 250 ng/mL, it is usually related to a micro-adenoma or a necrotic macro-adenoma. A mixed PRL/GH should always be suspected. If prolactin level is below 150 ng/mL, in the presence of a large hypothalamic-pituitary tumor, the major diagnosis is hyperprolactinemia due to pituitary disconnection. Ectopic secretions of prolactin remain very rare. A new etiology of hyperprolactinemia is loss of function mutation of prolactin receptor. [ABSTRACT FROM AUTHOR]

Abstract: We report the case of a 21-year-old pregnant women (36WA) presenting intensive headaches and visual disturbances. Those sellar compression symptoms have made us suppose the diagnosis of autoimmune hypophysitis. MRI has confirmed the typical aspect of symmetric enlargement of the pituitary gland with a strong and homogenous enhancement after gadolinium. This pathology associated to a high morbidity and mortality due to partial or complete deficit of the anterior pituitary hormones, shall be reminded more often. [Copyright &y& Elsevier]