Morbidity in males with 45,X/46,XY resembles the morbidity pattern in Turner syndrome: a national population-based study.

Context: Few studies have reported on males with 45,X/46,XY mosaicism. Most studies stem from pediatric settings and knowledge of natural history and long-term health outcomes are therefore lacking.

Objective: To describe long-term health outcomes in males with 45,X/46,XY in comparison to the general population.

Evidence-based guideline: premature ovarian insufficiency.

Study Question: How should premature/primary ovarian insufficiency (POI) be diagnosed and managed based on the best available evidence from published literature?

Summary Answer: The current guideline provides 145 recommendations on symptoms, diagnosis, causation, sequelae, and treatment of POI.

What Is Known Already: Premature ovarian insufficiency (POI) presents a significant challenge to women's health, with far-reaching implications, both physically and emotionally. The potential implications include adverse effects on quality of life; fertility; and bone, cardiovascular, and cognitive health.

Evidence-based guideline: Premature Ovarian Insufficiency.

Study Question: How should premature/primary ovarian insufficiency (POI) be diagnosed and managed, based on the best available evidence from published literature?

Summary Answer: The current guideline provides 145 recommendations on symptoms, diagnosis, causation, sequelae and treatment of POI.

What Is Known Already: Premature ovarian insufficiency (POI) presents a significant challenge to women's health, with far-reaching implications, both physically and emotionally. The potential implications include adverse effects on quality of life; fertility; and bone, cardiovascular and cognitive health.

Evidence-based guideline: premature ovarian insufficiency.

Study Question: How should premature/primary ovarian insufficiency (POI) be diagnosed and managed, based on the best available evidence from published literature?

Summary Answer: The current guideline provides 145 recommendations on symptoms, diagnosis, causation, sequelae and treatment of POI.

What Is Known Already: POI presents a significant challenge to women's health, with far-reaching implications, both physically and emotionally. The potential implications include adverse effects on quality of life, on fertility and on bone, cardiovascular and cognitive health.

Prevalence, Incidence, and Age at Diagnosis of Boys With Hypospadias: A Nationwide Population-Based Epidemiological Study.

Purpose: The aim of this study was to assess the diagnostic prevalence, incidence, diagnostic age, and surgical volume of hypospadias in Denmark.

Materials And Methods: Males with a hypospadias diagnosis in the Danish National Patient Registry (n = 10,276) were identified (1977-2019). A diagnostic algorithm, validated by medical file review (n = 1710), confirmed diagnoses and severity (distal/proximal).

Evolution of Health Care in Turner Syndrome.

Turner syndrome was recognized nearly 90 years ago as a distinctive condition and the understanding of pathophysiology, and phenotype has incrementally and substantially changed along with the goals of treatment. Today, multidisciplinary care is imperative, and the latest international consensus guideline has been crafted as a source of comprehensive practical recommendations for interdisciplinary care of individuals with Turner syndrome throughout their lifespan. We review the evolution of health care in Turner syndrome while highlighting the novel recommendations in the recently published international consensus guideline for the care of girls and women with Turner syndrome.

Hyperammonaemic encephalopathy due to non-functioning urea cycle as a complication to gastric bypass surgery.

Hyperammonaemic encephalopathy in the absence of liver failure is a major diagnostic challenge. A rare cause is as a complication to previous gastric bypass surgery, a condition reported to be associated with high mortality. In this case report, we present the exhaustive diagnostic work-up and clinical reversal of deep and recurrent hyperammonaemic encephalopathy in a patient with previous gastric bypass surgery.

Genotype-Phenotype Correlation and Feminizing Surgery in Danish Children with Congenital Adrenal Hyperplasia.

Introduction: Congenital adrenal hyperplasia (CAH) is characterized by a broad spectrum of symptoms. This study aimed to describe genotype-phenotype correlations, clinical manifestations at diagnosis, and the frequency of feminizing surgery in childhood.

Methods: A nationwide retrospective cohort study of patients diagnosed with CAH, at the age of ≤18 years, between 1943 and 2018.

Inhibitory deficits in Klinefelter syndrome are secondary to deficits in the auditory and motor domain.

Deficits in several cognitive domains are prevalent in men with Klinefelter Syndrome (KS). Verbal deficits are among the most characteristic cognitive impairments of KS, yet other cognitive domains also exhibit deficits. Executive functions, especially working memory capacity and inhibitory control, are frequently affected as well.

Three Weeks on a Ketogenic Diet Reduces Free Testosterone and Free Estradiol in Middle-Aged Obese Men and Women.

Background: Beta-hydroxybuturate (-OHB) supplements are commonly utilized in sports by both recreational and professional athletes. In a recent study, we observed a drop in testosterone levels following the oral ingestion of racemic sodium--OHB. In this investigation, we aim to determine whether a single oral dose of ketone ester (study I) and prolonged endogenous ketosis (study II) also reduces testosterone levels.

Late diagnosis of partial 3β-hydroxysteroid dehydrogenase type 2 deficiency - characterization of a new genetic variant.

Summary: Congenital adrenal hyperplasia (CAH) is one of the most common inherited rare endocrine disorders. This case report presents two female siblings with delayed diagnosis of non-classical CAH 3β-hydroxysteroid dehydrogenase type 2 (3βHSD2D/HSD3B2) despite early hospital admission and apparent CAH manifestations such as infections, hirsutism, menstrual disturbances, and PCOS phenotype. Initially, sister 1 was misdiagnosed with PCOS and then 11-hydroxylase deficiency (CYP11B1), based on ultrasound, biochemical findings, and negative genetic testing for 21-hydroxylase deficiency (CYP21A2).

Mild liver dysfunction in Klinefelter syndrome is associated with abdominal obesity and elevated lipids but not testosterone treatment.

Context: Klinefelter syndrome (KS) is associated with hypergonadotropic hypogonadism, which contributes to characteristic phenotypical manifestations including metabolic alterations. Extensive research has demonstrated important associations between androgens and liver function.

Objectives: Investigation of the association between metabolic parameters, sex hormones and liver function in males with KS, both treated (T-KS) and untreated (U-KS) and healthy control males.

Acute effects of testosterone on whole body protein metabolism in hypogonadal and eugonadal conditions: a randomized, placebo-controlled, crossover study.

Chronic testosterone (T) substitution and short-term T administration positively affect protein metabolism, however, data on acute effects in humans are sparse. This study aimed to investigate T's acute effects on whole body protein metabolism in hypogonadal and eugonadal conditions. We designed a randomized, double-blind, placebo-controlled, crossover study, including 12 healthy young males.

Endocrine, cardiac and neuropsychological aspects of adult congenital adrenal hyperplasia.

Objective: To investigate the metabolic, cardiovascular, and neuropsychological phenotype, quality of life (QoL), and hormonal regulation in individuals with congenital adrenal hyperplasia (CAH), a group of autosomal recessive disorders characterized by impaired synthesis of cortisol in the adrenal cortex and, if untreated compensatory hyperandrogenism. CAH is associated with an increased cardiovascular and metabolic morbidity, possibly due to overtreatment with glucocorticoids, leading to weight gain, insulin resistance, and metabolic syndrome.

Design, Participants, Measurements: Thirty-seven individuals with CAH and 33 age- and sex-matched controls were evaluated at a single centre at Aarhus University Hospital with echocardiography, electrocardiogram, 24-h blood pressure, biochemistry, anthropometrics, and autism spectrum, anxiety, depression, personality, cognitive failures, and QoL were assessed using questionnaires.

Multi-stakeholder opinion statement on the care of individuals born with differences of sex development: common ground and opportunities for improvement.

Background: In the last 15 years, the care provided for individuals born with differences of sex development (DSD) has evolved, with a strong emphasis on interdisciplinary approaches. However, these developments have not convinced some stakeholders to embrace the current model of care. This care model has also paid insufficient attention to socio-cultural differences and global inequalities.

Rare Case of a Turner Syndrome Patient with Metastatic Dysgerminoma and No Y-Chromosomal Material with Pathogenic Variants Found in KIT and MTOR.

Introduction: The presence of Y-chromosomal material in females with Turner syndrome (TS) is a well-established risk factor for developing gonadoblastoma and malignant transformations thereof. However, these events are rarely seen in TS patients with no Y-chromosomal material. Thus, it is the current understanding that parts of the Y-chromosome are essential for the malignant transformation of gonadoblastoma in the dysgenetic gonad.

Complete or partial loss of the Y chromosome in an unselected cohort of 865 non-vasectomized, azoospermic men.

Background: Structural abnormalities as well as minor variations of the Y chromosome may cause disorders of sex differentiation or, more frequently, azoospermia. This study aimed to determine the prevalence of loss of Y chromosome material within the spectrum ranging from small microdeletions in the azoospermia factor region (AZF) to complete loss of the Y chromosome in azoospermic men.

Results: Eleven of 865 azoospermic men (1.

Testosterone Replacement Therapy in Klinefelter Syndrome-Follow-up Study Associating Hemostasis and RNA Expression.

Background: Men with Klinefelter syndrome (KS) develop hypergonadotropic hypogonadism, are in need of testosterone replacement therapy (TRT), and present with a more than 4-fold increased risk of thrombosis. TRT in KS has the potential to modify thrombotic risk, but data are scarce.

Aim: To assess effects of 18 months of TRT on hemostasis in KS and identify genes associated with the prothrombotic phenotype.

The testicular microvasculature in Klinefelter syndrome is immature with compromised integrity and characterized by excessive inflammatory cross-talk.

Study Question: Does Klinefelter syndrome (KS) lead to a distinct gene expression pattern at single-cell level in the testes that could provide insight into the reported microvascular dysfunction in the testes?

Summary Answer: A distinct gene expression pattern within microvascular-associated cells of males with KS suggests excessive endothelial cell (EC) activation, disorganized vessel formation, and the presence of immature vessels with compromised integrity.

What Is Known Already: Recent studies show that males with KS exhibit microvascular dysfunction in their testes, which affects blood flow and is associated with lower circulating levels of testosterone.

Study Design, Size, Duration: A comparative cross-sectional study of males with KS (n = 6), non-obstructive azoospermia (NOA) (n = 5), cryptozoospermia (n = 3), and controls (n = 15) was carried out.

A Prospective Study of Lipids in Adult Women With Turner Syndrome.

Context: Turner syndrome (TS) is a rare genetic syndrome with an increased mortality, mainly attributed to cardiovascular disease.

Objective: This work aimed to investigate and correlate the lipid profile in adult women with TS to clinical characteristics.

Methods: A 12-year prospective cohort study, including 4 study visits, was conducted at a specialist hospital.