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Frontiers in Pediatrics 2024This study represents the first documentation of the coexistence of complete androgen insensitivity syndrome (CAIS) with Müllerian duct remnants (MDRs) in mainland...
This study represents the first documentation of the coexistence of complete androgen insensitivity syndrome (CAIS) with Müllerian duct remnants (MDRs) in mainland China. Additionally, we provide a comprehensive review of the existing literature concerning CAIS with MDRs resulting from gene mutations. This study broadens the clinical spectrum of CAIS and offer novel insights for further exploration into Müllerian duct regression. A 14-year-old patient, initially raised as female, presented to the clinic with complaints of "primary amenorrhea." Physical examination revealed the following: armpit hair (Tanner stage 2), breast development (Tanner stage 4 with bilateral breast nodule diameter of 7 cm), sparse pubic hair (Tanner stage 3), clitoris measuring 0.8 cm × 0.4 cm, separate urethral and vaginal openings, and absence of palpable masses in the bilateral groin or labia majora. The external genital virilization score was 0 points. Serum follicle-stimulating hormone level was 13.43 IU/L, serum luteinizing hormone level was 31.24 IU/L, and serum testosterone level was 14.95 nmol/L. Pelvic magnetic resonance imaging (MRI) did not reveal a uterus or bilateral fallopian tubes, but nodules on both sides of the pelvic wall indicated cryptorchidism. The karyotype was 46,XY. Genetic testing identified a maternal-derived hemizygous variation c.2359C > T (p.Arg787*) in the gene. During abdominal exploration, dysplastic testicles and a dysplastic uterus were discovered. Histopathological analysis revealed the presence of fallopian tube-like structures adjacent to the testicles. The CAIS patient documented in this study exhibited concurrent MDRs, thus expanding the spectrum of clinical manifestations of AIS. A review of prior literature suggests that the incidence of CAIS combined with histologically MDRs is not uncommon. Consequently, the identification of MDRs in AIS cases may represent an integral aspect of clinical diagnosis for this condition.
PubMed: 38895190
DOI: 10.3389/fped.2024.1400319 -
Geburtshilfe Und Frauenheilkunde Jun 2024Breast cancer (BC) stands as a global concern, given its high incidence and impact on women's mortality. This complex disease has roots in various risk factors, some...
Breast cancer (BC) stands as a global concern, given its high incidence and impact on women's mortality. This complex disease has roots in various risk factors, some modifiable and others not. Understanding and identifying these factors can be instrumental in both preventing BC and improving survival rates. Remarkably, women's reproductive behaviors have emerged as critical determinants of BC susceptibility. Numerous studies have shed light on how aspects including age of menarche, first pregnancy and menopause along with number of pregnancies, hormone replacement therapies, can influence one's risk of developing BC. Furthermore, the act of breastfeeding and its duration have shown an inverse relationship with BC risk. This review delves into the biological and molecular mechanisms associated with breastfeeding that contribute to BC protection. It highlights the role of endocrine processes triggered by suckling stimulation, the gradual onset of lactational amenorrhea, delayed weaning, reduced lifetime menstrual cycles, chromosomal repair mechanisms, and immunological events throughout the lactation cycle. These insights provide a potential explanation for the protective effects conferred by breastfeeding against breast carcinomas.
PubMed: 38884025
DOI: 10.1055/a-2313-0637 -
International Journal of Surgery Case... Jul 2024Ectopic pituitary neuroendocrine tumor (EPNET) is a very rare entity, seldom with apoplexy evolution. Only three cases of intracranial ectropic pituitary neuroendocrine...
INTRODUCTION AND IMPORTANCE
Ectopic pituitary neuroendocrine tumor (EPNET) is a very rare entity, seldom with apoplexy evolution. Only three cases of intracranial ectropic pituitary neuroendocrine tumor apoplexy were reported in the literature.
CASE PRESENTATION
We report the case of a 45-year-old woman with a history of amenorrhea, and headaches. Neuroimaging showed a very aggressive giant mass within the clivus with the invasion of the sphenoidal sinus and encasement of internal carotid arteries with an empty sella. Endocrinology work-up revealed an exceedingly high level of prolactin surprisingly without galactorrhea. Immunohistochemical analysis after an endonasal biopsy confirmed the diagnosis of prolactinoma. One month after Cabergoline initiation, an apoplexy of the ectopic pituitary neuroendocrine tumor occurred. Conservational management with a decrease in cabergoline dose was performed.
DISCUSSION
This article highlights data from various cases reported in the literature in addition to our case to confirm the extreme rarity of apoplexy as a complication of EPNET.
CONCLUSION
Pituitary apoplexy in ectopic pituitary neuroendocrine tumor is extremely rare. Therefore, in case of unusual localization of pituitary neuroendocrine tumor, a thorough follow-up is necessary to detect complications and ensure early management.
PubMed: 38878728
DOI: 10.1016/j.ijscr.2024.109874 -
The Journal of Clinical Endocrinology... Jun 2024Teprotumumab is the only drug approval by The US Food and Drug Administration (FDA) for the treatment of thyroid eye disease (TED), which targets the insulin-like growth...
PURPOSE
Teprotumumab is the only drug approval by The US Food and Drug Administration (FDA) for the treatment of thyroid eye disease (TED), which targets the insulin-like growth factor-1 receptor. This study aimed to identify potential safety signals of teprotumumab by analyzing post-marketing safety data from the FDA Adverse Event Reporting System (FAERS) database in 2023.
METHODS
The case/non-case approach was used to estimate the reporting odds ratio (ROR) and information component (IC) with relevant confidence intervals (95% CI) for adverse events (AEs) that numbered three or more.
RESULTS
Total of 2158 cases were included in the analysis. Main safety signals identified were ear and labyrinth disorders, reproductive system and breast disorders, metabolism and nutrition disorders and gastrointestinal disorders. Specifically, autophony (ROR [95% CI] = 4188.34 [1403.29-12500.8]), eyelid retraction (ROR [95% CI] = 2094.17 [850.69-5155.29]), deafness permanent (ROR [95% CI] = 1552.35 [789.07-3053.98]), deafness bilateral (ROR [95% CI] = 73.12 [41.14-129.97]), inflammatory bowel disease (ROR [95% CI] = 23.26 [13.46-40.19]), hyperglycaemic hyperosmolar nonketotic syndrome (ROR [95% CI] = 17.75 [5.70-55.28]) and amenorrhoea (ROR [95% CI] = 47.98 [36.22-63.54]) showed significant safety signals of teprotumumab.
CONCLUSIONS
This study identified ear and labyrinth disorders, reproductive system and breast disorders, as specific safety signals of teprotumumab. Clinicians and pharmacists should be vigilant regarding these AEs. However, available data are currently insufficient, and further pharmacovigilance and surveillance are needed to fully understand this issue.
PubMed: 38878281
DOI: 10.1210/clinem/dgae417 -
American Journal of Obstetrics and... Jun 2024While many transgender and gender diverse individuals rapidly achieve amenorrhea on testosterone, emerging data has identified that breakthrough bleeding (BTB) can occur...
BACKGROUND
While many transgender and gender diverse individuals rapidly achieve amenorrhea on testosterone, emerging data has identified that breakthrough bleeding (BTB) can occur in up to one third of individuals with long term use. BTB can worsen dysphoria and patients may seek management to reattain amenorrhea. Because of this, there is a need to assess efficacy of management approaches.
OBJECTIVES
The primary aim of the study was to evaluate methods used by patients and their providers to manage BTB which arises after one year of testosterone use. Secondary aims included describing the diagnostic approaches to BTB, and proposing an algorithm for classification and management of BTB in this patient population.
STUDY DESIGN
This was an IRB-approved single tertiary center, retrospective chart review of transgender and gender diverse individuals on testosterone gender affirming hormone therapy who experienced BTB after one year of use. Charts were reviewed to determine patient characteristics, testosterone use, and BTB management approaches.
RESULTS
Of the 96 individuals who had been on testosterone for one year and experienced BTB, 97% (n=93) engaged in at least one approach to management. The mean age at initiation of testosterone was 21.9 (SD 5.4) and the median duration of time on testosterone was 54.5 months (IQR 33.5,82). Only 16% (n=15) were using menstrual suppression at the time of their BTB episode. BTB was successfully managed in 77 (79%), following between 1-4 attempted approaches. More than half of management attempts (63%) were successful on the first try. When management approaches were analyzed independently, the range of success associated with any particular approach was between 33-100%. Other than hysterectomy, which was fully successful at managing BTB, no approach was significantly better than no intervention. This was true both for individuals who did and did not bleed with missed testosterone doses. Regardless of what approach was used, after a failed attempt, the next attempt was successful in more than half of individuals. Of the 16 who underwent hysterectomy, one did so in part as a first line approach to manage BTB.
CONCLUSION
In this study, use of medical management methods was not found to be superior to observation alone in the management of BTB. In the absence of data supporting superiority of any method, we recommend tailoring method attempts to patients' goals.
PubMed: 38876414
DOI: 10.1016/j.ajog.2024.06.004 -
Post Reproductive Health Jun 2024It is widely known that estrogen has a fundamental role to play in skeletal homeostasis. In the most reductionist sense, the action of estrogen can be surmised as... (Review)
Review
A local audit evaluating bone health in patients with functional hypothalamic amenorrhoea secondary to an eating disorder and a review of the application of hormone therapy in this clinical setting.
It is widely known that estrogen has a fundamental role to play in skeletal homeostasis. In the most reductionist sense, the action of estrogen can be surmised as anti-resorptive. Estrogen prevents the break-down of bone. It therefore follows that estrogen deficiency states, such as the menopause and functional hypothalamic amenorrhoea (FHA), are often characterised by increased bone remodelling and disrupted skeletal homeostasis. FHA is the cessation of menstruation secondary to abnormal signalling between the hypothalamus and pituitary gland due to deficient pulsatile secretion of Gonadotrophin Releasing Hormone (GnRH). Functional hypothalamic amenorrhoea is frequently a consequence of women suffering with eating disorders. The development of FHA secondary to eating disorders is an evolutionary adaptive response to chronic metabolic energy deficiency. Fundamentally, preservation of life is biologically prioritised over dispensable physiological process such as reproduction. Consequently, the hypothalamic-pituitary-ovarian (HPO) axis fails, which disrupts menstrual function and ovulation, culminating in a state of estrogen deficiency. One of the most important and long-lasting deleterious consequences of FHA is disrupted skeletal homeostasis and bone loss. Estrogen replacement, most commonly in the form of combined hormone replacement therapy (HRT) or the combined oral contraceptive pill (COCP), is advised for women with an early menopause to prevent bone loss. Arguably, estrogen replacement should also be utilised in the context of FHA. However, the optimum estrogen regime for women with FHA remains under-researched and so management is not evidence-based.
PubMed: 38874225
DOI: 10.1177/20533691241261749 -
Frontiers in Public Health 2024Low energy availability (LEA) is a state of inadequate energy reserves that results from a negative energy balance. This condition can lead to severe health risks such...
INTRODUCTION
Low energy availability (LEA) is a state of inadequate energy reserves that results from a negative energy balance. This condition can lead to severe health risks such as amenorrhea and osteoporosis. Various causes for LEA, such as eating disorders and exercise addiction, have been reported in the literature. However, data in Saudi Arabia are lacking. This cross-sectional study measures the prevalence of LEA, eating disorders, and exercise addiction among adult females in Saudi Arabia and identifies possible associated risk factors.
METHODS
The sample comprised 119 female athletes who filled out an online survey adapted from the LEA in Females Questionnaire, the Eating Disorder Examination Questionnaire, and the Exercise Addiction Inventory.
RESULTS
Participants showed a high prevalence of LEA (66.4%), eating disorder (33.6%), and exercise addiction (10.1%), confirming the association between normal weight and LEA in females living in Saudi Arabia ( < 0.00).
DISCUSSION AND CONCLUSION
With an increasing number of females in the country interested in following a healthy lifestyle, there is a need to raise the awareness of the population on the issues of LEA, eating disorders, and exercise addiction and their effects on the body by developing educational programs about energy intake and healthy physical activity routines.
Topics: Humans; Female; Saudi Arabia; Cross-Sectional Studies; Athletes; Adult; Feeding and Eating Disorders; Surveys and Questionnaires; Exercise; Prevalence; Risk Factors; Young Adult; Energy Intake; Adolescent; Behavior, Addictive
PubMed: 38873295
DOI: 10.3389/fpubh.2024.1411724 -
Endocrine Journal Jun 2024In the early 2000s, metastin, an endogenous ligand for G protein-coupled receptor 54 (GPR54), was discovered in human placental extracts. In 2003, GPR54 receptor...
In the early 2000s, metastin, an endogenous ligand for G protein-coupled receptor 54 (GPR54), was discovered in human placental extracts. In 2003, GPR54 receptor mutations were found in a family with congenital hypogonadotropic hypogonadism. Metastin was subsequently renamed kisspeptin after its coding gene, Kiss1. Since then, studies in mice and other animals have revealed that kisspeptin is located at the apex of the hypothalamic-pituitary-gonadal axis and regulates reproductive functions by modulating gonadotropin-releasing hormone (GnRH). In rodents, kisspeptin (Kiss1) neurons localize to two regions, the hypothalamic arcuate nucleus (ARC) and the anteroventral periventricular nucleus (AVPV). ARC Kiss1 neurons co-express neurokinin B (NKB) and dynorphin and are thus termed KNDy neurons. Kiss1 neurons in humans are concentrated in the infundibular nucleus (equivalent to the ARC), with few Kiss1 neurons localized to the preoptic area (equivalent to the AVPV), and the mechanisms underlying GnRH surge secretion in humans are poorly understood. However, peripheral administration of kisspeptin to humans promotes gonadotropin secretion, and administration of kisspeptin to patients with hypothalamic amenorrhea or congenital hypogonadotropic hypogonadism restores the pulsatile secretion of GnRH/luteinizing hormone. Thus, kisspeptin undoubtedly plays an important role in reproductive function in humans. Studies are currently underway to develop kisspeptin receptor agonists or antagonists for clinical application. Modification of KNDy neurons by NKB agonists/antagonists is also being attempted to develop therapeutic agents for various menstrual abnormalities, including polycystic ovary syndrome and menopausal hot flashes. Here, we review the role of kisspeptin in humans and its clinical applications.
PubMed: 38866494
DOI: 10.1507/endocrj.EJ24-0006