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Jesper Krogh Department of Endocrinology & Metabolism, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

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Peter Plomgaard Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark
Department of Clinical Biochemistry, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Ruth Frikke-Schmidt Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark
Department of Clinical Biochemistry, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Sten Velschow Fluisense ApS, Lillerød, Denmark

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Jesper Johannesen Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark
Department of Pediatrics, Copenhagen University Hospital - Herlev & Gentofte, Copenhagen, Denmark

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Linda Maria Hilsted Department of Clinical Biochemistry, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Malene Schrøder Fluisense ApS, Lillerød, Denmark

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Ulla Feldt-Rasmussen Department of Endocrinology & Metabolism, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

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Repeated blood sampling is required in certain clinical and research settings, which is currently performed by drawing blood from venous catheters requiring manual handling of each sample at the time of collection. A novel body-worn device for repeated serial samples, Fluispotter®, with automated extraction, collection, and storage of up to 20 venous dried blood spot samples over the course of 20 h may overcome problems with current methods for serial sampling. The purpose of this study was to assess the performance and safety of Fluispotter for the first time in healthy subjects. Fluispotter consists of a cartridge with tubing, a reservoir for flushing solution, pumps and filterpaper, and a multi-lumen catheter placed in the brachial vein. We recruited healthy subjects for testing in an in-hospital setting. Fluispotter was attached by an anesthesiologist to 22 healthy subjects of which 9/22 (40.9%) participants had all 20 samples taken, which was lower than the goal of complete sampling in 80% of the subjects (P = 0.02). The main reason for sample failure was clogging of blood flow which was observed in 11/22 (50%) of the participants. No serious adverse events occurred, and the participants rated the pain from the insertion and the removal of catheter as very low. A cortisol profile showed nadir values at midnight and highest values at 05:00 h. Although full sampling was not successful in all participants, the Fluispotter technology proved safe and highly acceptable to the participants producing the expected cortisol profile without the requirement of staff during sample collection.

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Jiaxi Li Department of Physiology, Xiangya School of Medicine, Central South University, Changsha, Hunan, China

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Pu Huang Department of Health Management Center, Changsha Central Hospital, University of South China, Changsha, Hunan, China

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Jing Xiong Department of Endocrinology, Xiangya Third Hospital, Central South University, Changsha, Hunan, China

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Xinyue Liang Department of Physiology, Xiangya School of Medicine, Central South University, Changsha, Hunan, China

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Mei Li Department of Physiology, Xiangya School of Medicine, Central South University, Changsha, Hunan, China

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Hao Ke Department of Physiology, Xiangya School of Medicine, Central South University, Changsha, Hunan, China

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Chunli Chen Department of Dermatology, Xiangya Third Hospital, Central South University, Changsha, Hunan, China

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Yang Han Department of Physiology, Xiangya School of Medicine, Central South University, Changsha, Hunan, China

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Yanhong Huang Department of Physiology, Xiangya School of Medicine, Central South University, Changsha, Hunan, China

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Yan Zhou Department of Physiology, Xiangya School of Medicine, Central South University, Changsha, Hunan, China

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Ziqiang Luo Department of Physiology, Xiangya School of Medicine, Central South University, Changsha, Hunan, China
Hunan Key Laboratory of Organ Fibrosis, Central South University, Changsha, Hunan, China

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Dandan Feng Department of Physiology, Xiangya School of Medicine, Central South University, Changsha, Hunan, China
Hunan Key Laboratory of Organ Fibrosis, Central South University, Changsha, Hunan, China

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Chen Chen School of Biomedical Sciences, University of Queensland, St Lucia, Brisbane, Queensland, Australia

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Objective

Ghrelin regulates body weight, food intake, and blood glucose. It also regulates insulin secretion from pancreatic islet cells. LEAP2 is a newly discovered endogenous ligand of the growth hormone secretagogue’s receptor (GHSR). It not only antagonizes the stimulation of GHSR by ghrelin but also inhibits the constitutive activation of GHSR as an inverse agonist. Type 2 diabetes (T2D) patients have endocrine disorders with metabolic imbalance. Plasma levels of ghrelin and LEAP2 may be changed in obese and T2D patients. However, there is no report yet on circulating LEAP2 levels or ghrelin/LEAP2 ratio in T2D patients. In this study, fasting serum ghrelin and LEAP2 levels in healthy adults and T2D patients were assessed to clarify the association of two hormones with different clinical anthropometric and metabolic parameters.

Design

A total of 16 females and 40 males, ages 23–68 years old normal (n  = 27), and T2D patients (n  = 29) were enrolled as a cross-sectional cohort.

Results

Serum levels of ghrelin were lower but serum levels of LEAP2 were higher in T2D patients. Ghrelin levels were positively correlated with fasting serum insulin levels and HOMA-IR in healthy adults. LEAP2 levels were positively correlated with age and hemoglobin A1c (HbA1c) in all tested samples. Ghrelin/LEAP2 ratio was negatively correlated with age, fasting blood glucose, and HbA1c.

Conclusions

This study demonstrated a decrease in serum ghrelin levels and an increase in serum LEAP2 levels in T2D patients. LEAP2 levels were positively correlated with HbA1c, suggesting that LEAP2 was associated with T2D development. The ghrelin/LEAP2 ratio was closely associated with glycemic control in T2D patients showing a negative correlation with glucose and HbA1c.

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Vanderlan O Batista Division of Psychiatry, Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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Michael Kellner Department of Psychiatry and Psychotherapy, University Hospital Hamburg-Eppendorf, Hamburg, Germany and Technical University of Munich, Munich, Germany

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Roberto Salvatori Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

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Walter Lisboa Department of Psychology, Federal University of Sergipe, São Cristovão, Sergipe, Brazil

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André Faro Postgraduate Program in Psychology, Federal University of Sergipe, São Cristovão, Sergipe, Brazil

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Lucas B Santos Division of Endocrinology, Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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Enaldo V Melo Statistics division, Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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Alécia A Oliveira-Santos Division of Endocrinology, Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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Carla R P Oliveira Division of Endocrinology, Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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Viviane C Campos Division of Endocrinology, Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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Cynthia S Barros-Oliveira Division of Endocrinology, Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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Elenilde G Santos Division of Endocrinology, Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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Nathalie O Santana Division of Endocrinology, Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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Keila R Villar-Gouy Division of Endocrinology, Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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Ângela C Leal Division of Endocrinology, Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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Rivia S Amorim Division of Geriatrics, Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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Davi A Oliveira Simões Division of Endocrinology, Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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Manuel H Aguiar-Oliveira Division of Endocrinology, Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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Individuals with untreated isolated GH deficiency (IGHD) due to a mutation in the GHRH receptor gene from Itabaianinha Brazil have increased insulin sensitivity, normal life expectancy, and an extended health span, i.e. the period of life free from disabilities. We hypothesize that their prolonged health span is accompanied by a delayed cognitive decline in senescence. To test this hypothesis, we have administered the Literacy-Independent Cognitive Assessment (LICA) to 15 IGHD individuals aged over 50 years and 15 controls matched by age, sex, years of education, and percentage of illiteracy. All individuals were negative for HIV and syphilis serology, and there were no differences in serum levels of folate, vitamin B12 and TSH between the two groups, while free T4 was higher in the IGHD group. IGHD subjects had a higher total LICA score than controls, 215 (22.7) vs 204.2 (18.1), without reaching statistical significance. Scores of memory, visuoconstruction, language and calculation were similar between the two groups, with better attention (9.5 (1.4) vs 8.3 (1.1), P = 0.01) and executive function (38.3 (4.8) vs 35.1 (2.5), P = 0.03) scores in IGHD. MANCOVA revealed that group (but no age) had a significant effect on the LICA variables (partial eta squared of 0.455, power of 0.812, P = 0.02). This effect is verified on attention (partial eta squared 0.216, power of 0.749, P = 0.01) and executive function (partial eta squared 0.154, power of 0.570, P = 0.03. In conclusion, IGHD in senescence is associated with similar total cognitive performance but better attention and executive function than controls.

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Saroj Kumar Sahoo Department of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
Division of Endocrinology, Mid and South Essex NHS Trust, Broomfield, UK

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Jayakrishnan C Menon Department of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

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Nidhi Tripathy Department of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

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Monalisa Nayak Department of Liver Intensive Care Unit, King’s College Hospital, London, UK

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Subhash Yadav Department of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

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Objective

We studied the temporal course of hypothalamic–pituitary–adrenal (HPA) dysfunction in patients with coronavirus disease 2019 (COVID-19).

Methods

Three hundred and two patients (median age 54 years (interquartile range (IQR) 42–64), 76% males) were recruited. The HPA axis was evaluated by morning cortisol and adrenocorticotrophic hormone (ACTH) at admission (n = 232). Adrenal insufficiency (AI) during acute illness was defined using a morning cortisol <83 nmol/L. AI at 12 months follow-up was defined using a peak cortisol <406 nmol/L in the ACTH stimulation test (APST) (n = 90). Those with AI at 12 months were further assessed by APST every 6 months for recovery of hypoadrenalism.

Results

The median morning cortisol and ACTH levels during COVID-19 were 295 (IQR 133–460) nmol/L and 3.9 (0.8–6.9) pmol/L, respectively. AI was present in 33 (14%) patients; ACTH was elevated in three and low or inappropriately normal in the rest 30 patients. At 12 months, AI was seen in 13% (12/90) patients, with all cases being hypothalamic–pituitary in origin; five (42%) of them had not met the diagnostic criteria for AI during COVID-19. AI diagnosed at admission persisted at 12 months in seven patients and recovered in seven; the remaining 19 patients were lost to follow-up. The presence of AI at 12 months was independent of severity and steroid use during COVID-19. A morning cortisol <138 nmol/L during COVID-19 predicted the presence of AI at 12 months. All patients showed recovery of the HPA axis in the ensuing 12 months.

Conclusion

Central AI was common during acute COVID-19 and at 12 months of follow-up. AI can be late onset, developing after recovery from COVID-19, and was transient in nature.

Open access
Antonella Giampietro Pituitary Unit, Department of Endocrinology, Fondazione A Gemelli, IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy

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Sabrina Chiloiro Pituitary Unit, Department of Endocrinology, Fondazione A Gemelli, IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy

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Claudio Urbani Endocrinology II Unit, Department of Medicine, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy

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Rosario Pivonello Dipartimento Di Medicina Clinica E Chirurgia, Sezione Di Endocrinologia, Università Federico II di Napoli, Naples, Italy

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Martin Ove Carlsson Global Medical Affairs, Pfizer Rare Disease, Brussels, Belgium

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Francesca Dassie Department of Medicine - DIMED, University of Padua, Padua, Italy

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Nunzia Prencipe Division of Endocrinology, Diabetology and Metabolism, Department of Medical Science, University of Turin, Turin, Italy

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Marta Ragonese Unit of Endocrinology, Department of Human Pathology, University of Messina, Messina, Italy

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Roy Gomez Global Medical Affairs, Pfizer Rare Disease, Brussels, Belgium

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Simona Granato Medical Department, Pfizer Italia, Rome, Italy

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Salvatore Cannavò Unit of Endocrinology, Department of Human Pathology, University of Messina, Messina, Italy

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Silvia Grottoli Division of Endocrinology, Diabetology and Metabolism, Department of Medical Science, University of Turin, Turin, Italy

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Pietro Maffei Department of Medicine - DIMED, University of Padua, Padua, Italy

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Annamaria Colao Dipartimento Di Medicina Clinica E Chirurgia, Sezione Di Endocrinologia, Università Federico II di Napoli, Naples, Italy

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Fausto Bogazzi Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

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Antonio Bianchi Pituitary Unit, Department of Endocrinology, Fondazione A Gemelli, IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy

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Purpose

The aim of this study was to examine the probability of achieving acromegaly disease control according to several patient-, disease- and treatment-related factors longitudinally.

Methods

We analyzed data from ACROSTUDY, an open-label, noninterventional, post-marketing safety surveillance study conducted in 15 countries. A total of 1546 patients with acromegaly and treated with pegvisomant, with available information on baseline IGF-1 level, were included. Factors influencing IGF-1 control were assessed up to 10 years of follow-up by mixed-effects logistic regression models, taking into account changing values of covariates at baseline and at yearly visits. Twenty-eight anthropometric, clinical and treatment-related covariates were examined through univariate and multivariate analyses. We tested whether the probability of non-control was different than 0.50 (50%) by computing effect sizes (ES) and the corresponding 95% CI.

Results

Univariate analysis showed that age <40 years, normal or overweight, baseline IGF-1 <300 µg/L or ranged between 300 and 500 µg/L, and all pegvisomant dose <20 mg/day were associated with a lower probability of acromegaly uncontrol. Consistently, in multivariate analyses, the probability of uncontrolled acromegaly was influenced by baseline IGF-1 value: patients with IGF-1 <300 µg/L had the lowest risk of un-controlled acromegaly (ES = 0.29, 95% CI: 0.23–0.36). The probability of acromegaly uncontrol was also lower for values 300–500 µg/L (ES = 0.37, 95% CI: 0.32–0.43), while it was higher for baseline IGF-1 values ≥700 µg/L (ES = 0.58, 95% CI: 0.53–0.64).

Conclusion

Baseline IGF-l levels were a good predictor factor for long-term acromegaly control. On the contrary, our data did not support a role of age, sex, BMI and pegvisomant dose as predictors of long-term control of acromegaly.

Significance statement

Among factors that could influence and predict the efficacy of pegvisomant therapy in controlling acromegaly, a central role of baseline IGF-1 values on the probability of achieving a biochemical control of acromegaly during the treatment with pegvisomant was identified, in a real-life setting.

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Ja Hye Kim Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Yunha Choi Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Soojin Hwang Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Ji-Hee Yoon Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Jieun Lee Department of Pediatrics, Ilsan Paik Hospital, Inje University College of Medicine, Goyang, Korea

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Min Jae Kang Department of Pediatrics, Hallym University Sacred Heart Hospital, Hallym University College of Medicine, Anyang, Korea

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Gu-Hwan Kim Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Han-Wook Yoo Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Jin-Ho Choi Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Objective

This study was performed to investigate the molecular characteristics and frequency of copy number variations (CNVs) of ANOS1 in patients with Kallmann syndrome (KS) or normosmic isolated hypogonadotropic hypogonadism (nIHH) using multiplex ligation-dependent probe amplification (MLPA) analysis and sequencing.

Methods

Among 45 patients from 43 independent families, Sanger sequencing, next-generation sequencing (NGS), or microarray was performed in 24 patients from 23 families, and MLPA was performed in 19 patients who did not show rare sequence variants (n = 18) or ANOS1 amplification by PCR (n = 1).

Results

Seven patients (four patients with KS, one patient with nIHH, one prepubertal boy with anosmia, and one newborn patient) from six families (6/43, 14%) harbored molecular defects in ANOS1 including a nonsense mutation (c.1140G>A (p.W380*)), a frameshift mutation (c.1260del (p.Q421Kfs*61)), a splice site mutation (c.1449+1G>A), an exon 7 deletion, a complete deletion, and 7.9 Mb-sized inversion encompassing ANOS1. The complete deletion of ANOS1 was identified in a neonate with a micropenis and cryptorchidism. Unilateral renal agenesis was found in three patients, whereas only one patient displayed both synkinesia and sensorineural hearing loss. There was no reversal of hypogonadotropic hypogonadism in any patient during 9.1 ± 2.9 years of treatment with testosterone enanthate.

Conclusions

Molecular defects in the ANOS1 gene could be identified in 14% of probands including various types of CNVs (3/43, 7.0%). Comprehensive analysis using sequencing and analysis for CNVs is required to detect molecular defects in ANOS1.

Open access