European Journal of Endocrinology

OBJECTIVE: The c.1998delinsTTCT variant in the RET gene (codon 666) is linked to medullary thyroid carcinoma in Belgium. We aimed to study the clinical phenotype and the age-dependent penetrance in predictive variant carriers. DESIGN AND METHODS: retrospective study of index patients and predictive variant carriers, identified through familial cascade testing between 2001 and 2020. RESULTS: The total cohort comprised 119 patients: 15 index patients, 102 heterozygous and 2 homozygous predictive variant carriers...

BACKGROUND: Early puberty suppression (ePS; Tanner stage 2-3) through Gonadotropin-Releasing Hormone agonists (GnRHa) and gender-affirming hormones (GAH) interferes with growth and may impact final height (FH). AIM: To investigate the impact of ePS and GAH on FH in trans boys and trans girls. METHODS: Retrospective study, including 10 trans boys and 22 trans girls at FH. Bone age (BA) was determined at start of ePS and at start of GAH according to Greulich & Pyle; predicted adult height (PAH) was calculated according to Bayley & Pinneau's tables; target height (TH) was calculated as adjusted mean of maternal and paternal height...

BACKGROUND: Several rare loss-of-function mutations of delta-like noncanonical notch ligand 1 (DLK1) have been described in non-syndromic children with familial central precocious puberty (CPP). OBJECTIVE: We investigated genetic abnormalities of DLK1 gene in a French cohort of children with idiopathic CPP. Additionally, we explored the pattern of DLK1 serum levels in patients with CPP and in healthy children at puberty, as well as in wild-type female mice. PATIENTS AND METHODS: Genomic DNA was obtained from 121 French index cases with CPP...

OBJECTIVE: Our study aimed to assess the impact of genetic modifiers on the significant variation in phenotype that is observed in individuals with SHOX deficiency, which is the most prevalent monogenic cause of short stature. DESIGN AND METHODS: We performed a genetic analysis in 98 individuals from 48 families with SHOX deficiency with a target panel designed to capture the entire SHOX genomic region and 114 other genes that modulate growth and/or SHOX action...

OBJECTIVE: Anorexia nervosa is a primary psychiatric disorder characterized by self-induced negative energy balance. A number of hormonal responses and adaptations occur in response to starvation and low body weight including changes in adrenocortical hormones. Our objective was to systematically review adrenocortical hormone levels in anorexia nervosa. DESIGN/METHODS: We searched MEDLINE and EMBASE for studies that reported at least one adrenocortical hormone, including dehydroepiandrosterone (DHEA), DHEA-sulfate (DHEA-S), progesterone, 17-hydroxyprogesterone, pregnenolone, cortisol (serum, urine, cerebrospinal fluid, and hair sample), aldosterone, androstenedione and testosterone in patients with anorexia nervosa and normal-weight healthy controls from inception until October 2021...

OBJECTIVE: Benchmarks aid in improve outcomes for surgical procedures. However, best achievable results that have been validated internationally for transsphenoidal surgery (TS) are not available. We aimed to establish standardized outcome benchmarks for transsphenoidal surgery of pituitary adenomas. METHODS: A total of 2685 transsphenoidal tumor resections from 9 expert centers in 3 continents were analyzed. Patients were risk stratified and the median values of each center's outcomes were established...

BACKGROUND: An increased prevalence of depression has been reported in patients with acromegaly. However, most studies included a relatively small sample size owing to the rarity of acromegaly. We aimed to investigate the risk of depression in patients with acromegaly using the Korean National Health Information Database (NHID). METHODS: The data of patients with acromegaly in 2006-2016 were collected from the rare incurable disease registry of the NHID. Patients with acromegaly were matched with control participants without acromegaly for age and sex in a 1:5 ratio...

OBJECTIVES: The identification of myokines susceptible to improve glucose homeostasis following bariatric surgery could lead to new therapeutic approaches for type 2 diabetes. METHODS: Changes in the Homeostasis Model Assessment (HOMA) test were assessed in patients before and 3 months after bariatric surgery. Changes in myokines expression and circulating levels were assessed using RT-qPCR and ELISA. Myokines known to regulate glucose homeostasis were identified using literature (Targeted study) and putative myokines using RNA-Sequencing (Untargeted study)...

OBJECTIVE: The essential role of ACTH on the growth and function of the human foetal adrenal (HFA) has long been recognized. In addition, many studies have suggested a role of the pituitary hormone prolactin (PRL) in the regulation of the HFA, but the effects of this hormone on steroidogenesis and gene expression are still unknown. Our objective was to investigate the effect of ACTH and PRL on the steroidogenic capacities of the HFA. DESIGN: In vitro/ex vivo experimental study...

OBJECTIVE: To determine mechanisms contributing to impaired bone health in youth 24 months following sleeve gastrectomy (SG). DESIGN: 24-month longitudinal observational study. METHODS: Participants included 23 youth undergoing SG and 30 non-surgical controls (NS) 13-25 years old with moderate-to-severe obesity. Subjects underwent fasting labs for bone turnover markers (N-terminal propeptide of type 1 procollagen, C-telopeptide (CTX), sex hormones, enteric peptides, DXA for areal bone mineral density (aBMD) and body composition, high resolution peripheral quantitative CT for volumetric BMD (vBMD) at the distal radius and tibia, and microfinite element analysis for strength estimates...

OBJECTIVE: Congenital hypogonadotropic hypogonadism (CHH) is a rare, genetically heterogeneous reproductive disorder caused by gonadotropin-releasing hormone (GnRH) deficiency. Approximately half of CHH patients also have decreased or absent sense of smell, i.e. Kallmann syndrome (KS). We describe a patient with White-Sutton syndrome (developmental delay and autism spectrum disorder) and KS due to a heterozygous de novo mutation in POGZ (c.2857C > T, p.(Gln953*)), a gene encoding pogo transposable element derived with zinc finger domain, which acts as a transcriptomic regulator of neuronal networks...

OBJECTIVE: Adrenocortical carcinoma (ACC) is a rare aggressive malignancy with heterogeneous clinical outcomes. Recent studies proposed a combination of clinical/histopathological parameters (S-GRAS score) or molecular biomarkers (BMs) to improve prognostication. We performed a comparative analysis of DNA-based BMs by evaluating their added prognostic value to the S-GRAS score. DESIGN AND METHODS: 194 formalin-fixed, paraffin-embedded (FFPE) ACC samples were analysed, including a retrospective training cohort (n=107) and a prospective validation cohort (n=87)...

OBJECTIVE: Frailty, characterized by multisystem decline, increases vulnerability to adverse health outcomes and can be measured using Frailty Index (FI). We aimed to assess the prevalence of frailty in patients with adrenal disorders (based on hormonal subtype) and examine association between FI and performance-based measures of physical function. DESIGN: Multicenter, cross-sectional study (03/2019-08/2022). METHODS: Adult patients with adrenal disorders (nonfunctioning adrenal adenomas [NFA], mild autonomous cortisol secretion [MACS], Cushing syndrome [CS], primary aldosteronism [PA]) and referent subjects without adrenal disorders completed a questionnaire encompassing 47 health variables (comorbidities, symptoms, daily living activities)...

OBJECTIVE: Treatment in transgender girls can consist of puberty suppression (PS) with a GnRH agonist (GnRHa) followed by gender affirming hormonal treatment (GAHT) with estrogen. Bone mineral density (BMD) Z-scores decrease during PS and remain relatively low during GAHT, possibly due to insufficient estradiol dosage. Some adolescents receive high dose estradiol or ethinylestradiol (EE) to limit growth allowing comparison of BMD outcome with different dosages. DESIGN: Retrospective study...

OBJECTIVE: Assessment of the efficacy and safety/tolerability of the aromatase inhibitor leflutrozole to normalise testosterone in Obesity-associated Hypogonadotropic Hypogonadism (OHH). DESIGN: Placebo-controlled, double-blind, RCT, in 70 sites in Europe/USA. METHODS: Patient inclusion criteria: men with BMI of 30-50 kg/m2, morning total testosterone (TT) < 10.41 nmol/L, and two androgen deficiency symptoms (at least one of sexual dysfunction)...

OBJECTIVE: Autoantibodies against the adrenal enzyme 21-hydroxylase is a hallmark manifestation in autoimmune Addison's disease (AAD). Steroid 21-hydroxylase is encoded by CYP21A2, which is located in the HLA region together with the highly similar pseudogene CYP21A1P. A high level of copy number variation is seen for the two genes, and therefore we asked if genetic variation of the CYP21 genes is associated with AAD. METHODS: Using next-generation DNA sequencing, we estimated the copy number of CYP21A2 and CYP21A1P together with HLA alleles in 479 Swedish patients with AAD and autoantibodies against 21-hydroxylase, and in 1,393 healthy controls...

OBJECTIVE: Data on pre- and postoperative pituitary function in nonfunctioning pituitary adenomas (NFPA) are not consistent. We aimed to investigate pituitary function before and up to five years after transsphenoidal surgery with emphasis on the hypothalamic-pituitary-adrenal axis (HPA). DESIGN AND METHODS: Data from the Swedish Pituitary Register was used to analyze anterior pituitary function in 838 patients with NFPA diagnosed between 1991 and 2014. Patients who were reoperated or had received radiotherapy were excluded...

BACKGROUND: Acromegaly is associated with an increased left ventricular (LV) mass, as reported in echo-based and more recently in few cardiac MRI studies. One possible explanation of this increased LV mass could be water retention and subsequent myocardial edema. METHODS: In this prospective, cross-sectional study 26 patients with active acromegaly before and after treatment and 31 controls of comparable age and sex were investigated using cardiac MRI. Cardiac morphology, function and myocardial tissue characteristics were evaluated...

OBJECTIVE: The results of previous studies on sex differences in mortality and comorbidities among patients with acromegaly are diverse. We assessed the sex differences in mortality and the risk of complications in patients with acromegaly. METHODS: We included 1884 patients with acromegaly with 1:50 age- and sex-matched 94200 controls using the Korean nationwide claims database from 2009 to 2019. RESULTS: During the median 5.51 years of follow-up, the acromegaly group had higher all-cause mortality than the control group (hazard ratio [HR] 1...

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