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Book: Puberty from bench to clinic

Bourguignon, Jean-Pierre / Parent, Anne-Simone

lessons for clinical management of pubertal disorders

(Endocrine development ; 29)

2016

Author's details	ed. Jean-Pierre Bourguignon ; Anne-Simone Parent
Series title	Endocrine development ; 29
Collection
Keywords	Puberty ; Generative organs/Abnormalities/Genetic aspects ; Generative organs/Abnormalities/Environmental aspects ; Sexual disorders/Genetic aspects ; Sexual disorders/Environmental aspects ; Teenagers/Diseases/Treatment ; Adolescent medicine ; Pubertät ; Entwicklungsstörung ; Endokrinopathie
Subject	Endokrine Krankheit ; Endokrine Drüse ; Endokrine Regulationsstörung ; Hormonstörung ; Hormonelle Störung ; Entwicklungsanomalie
Subject code	616.6900835
Language	English
Size	X, 263 S. : Ill., graph. Darst., 26 cm
Publisher	Karger
Publishing place	Basel u.a.
Publishing country	Switzerland
Document type	Book
Note	Includes bibliographical references and indexes
HBZ-ID	HT018880291
ISBN	978-3-318-02788-4 ; 9783318027891 ; 3-318-02788-X ; 3318027898
Database	Catalogue ZB MED Medicine, Health

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2016 A 396	available for loan (reading room)	Lesesaal EG

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Article ; Online: Emulsifiers during gestation: The risks of ultra-processed food revealed in mice.

Franssen, Delphine / Parent, Anne-Simone

PLoS biology

2023 Volume 21, Issue 8, Page(s) e3002265

Abstract: Several dietary components disrupt the control of energy balance. A new study in PLOS Biology shows that, in mice, maternal consumption of emulsifiers induces a rewiring of the hypothalamic feeding circuits and causes neuropsychological impairment in the ...

Abstract	Several dietary components disrupt the control of energy balance. A new study in PLOS Biology shows that, in mice, maternal consumption of emulsifiers induces a rewiring of the hypothalamic feeding circuits and causes neuropsychological impairment in the offspring.
MeSH term(s)	Animals ; Mice ; Pregnancy ; Female ; Food, Processed
Language	English
Publishing date	2023-08-25
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Comment
ZDB-ID	2126776-5
ISSN	1545-7885 ; 1544-9173
ISSN (online)	1545-7885
ISSN	1544-9173
DOI	10.1371/journal.pbio.3002265
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Article: Hyperinsulinisme congénital : apports de la biologie, de la réponse thérapeutique, de la génétique et de l’imagerie.

Vandendaele, Catherine / Kaschten, Sophie / Parent, Anne-Simone / Fudvoye, Julie

Revue medicale de Liege

2024 Volume 79, Issue 3, Page(s) 168–174

Abstract: Congenital hyperinsulinism is the most common cause of recurrent hypoglycemia in newborns and children. Early diagnosis and rapid management are essential to avoid hypoglycaemic brain injury and later neurological complications. Management of those ... ...

Title translation	Congenital hyperinsulinism : contributions of chemistry, therapeutic response, genetics and imaging.
Abstract	Congenital hyperinsulinism is the most common cause of recurrent hypoglycemia in newborns and children. Early diagnosis and rapid management are essential to avoid hypoglycaemic brain injury and later neurological complications. Management of those patients involves biological evaluation, molecular genetics, imaging techniques and surgical advances. We report the case of a newborn with recurrent hypoglycemia due to congenital hyperinsulinism (CHI) caused by a new variant in the ABCC8 gene. Fluorine 18-L-3,4 Dihydroxyphenylalanine Positron Emission Tomography (18F-DOPA PET/CT scan) reported a focal lesion at the isthmus of the pancreas which has been removed by laparoscopic surgery with a complete recovery for the patient.
MeSH term(s)	Child ; Humans ; Infant, Newborn ; Infant ; Positron Emission Tomography Computed Tomography ; Congenital Hyperinsulinism/diagnostic imaging ; Congenital Hyperinsulinism/genetics ; Congenital Hyperinsulinism/pathology ; Pancreas/pathology ; Pancreas/surgery ; Positron-Emission Tomography/methods ; Laparoscopy
Language	French
Publishing date	2024-03-15
Publishing country	Belgium
Document type	Case Reports ; English Abstract ; Journal Article
ZDB-ID	414001-1
ISSN	0370-629X ; 0035-3663
ISSN	0370-629X ; 0035-3663
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Zs.A 597: Show issues

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Article ; Online: Unusual Cardiac Manifestations of a Pheochromocytoma in a Girl

Lisa D’Angelo / Anne-Simone Parent / Céline Derwael / Roland Hustinx / Marie-Christine Seghaye

Pediatric Reports, Vol 15, Iss 19, Pp 237-

2023 Volume 244

Abstract: We report the case of an 11-year-old girl who complained about severe asthenia, orthostatic dizziness and abdominal pain for 4 weeks. The primary investigation concluded on febrile urinary tract infection treated by antibiotics. Symptom persistence ... ...

Abstract	We report the case of an 11-year-old girl who complained about severe asthenia, orthostatic dizziness and abdominal pain for 4 weeks. The primary investigation concluded on febrile urinary tract infection treated by antibiotics. Symptom persistence prompted cardiological and endocrinological investigations. A fluctuation in blood pressure, long QT interval, dilation of the aortic root and left ventricular hypertrophy were documented. Elevated levels of urinary catecholamines together with the presence of a right-sided adrenal mass shown via abdominal ultrasound and magnetic resonance imaging were highly suggestive of a pheochromocytoma. This was confirmed by through iodine-123-metaiodobenzylguathdine ([ 123 I]-mIBG) scintigraphy. Genetic analysis allowed for the exclusion of pathogenic mutations in genes implicated in hereditary paragangliomas and pheochromocytomas but showed a rare somatic mutation in exon 3 of the von Hippel-Lindau gene. The patient was treated with a β-blocker and calcium channel antagonist and underwent laparoscopic right-sided adrenalectomy. Cardiac manifestations resolved soon after surgery indicating that they were secondary to the pheochromocytoma. After 5 years of follow-up, the patient remains asymptomatic without any sign of tumor recurrence. The presence of aortic root dilation, a prolonged QT-interval and left ventricular hypertrophy may be early cardiac manifestations of a pheochromocytoma in a child and should prompt this diagnosis to be evoked.
Keywords	aortic root dilation ; prolonged QT interval ; left ventricular hypertrophy ; pheochromocytoma ; von Hippel-Lindau gene mutation ; Medicine ; R ; Pediatrics ; RJ1-570
Subject code	610
Language	English
Publishing date	2023-03-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article: Unusual Cardiac Manifestations of a Pheochromocytoma in a Girl.

D'Angelo, Lisa / Parent, Anne-Simone / Derwael, Céline / Hustinx, Roland / Seghaye, Marie-Christine

Pediatric reports

2023 Volume 15, Issue 1, Page(s) 237–244

Abstract	We report the case of an 11-year-old girl who complained about severe asthenia, orthostatic dizziness and abdominal pain for 4 weeks. The primary investigation concluded on febrile urinary tract infection treated by antibiotics. Symptom persistence prompted cardiological and endocrinological investigations. A fluctuation in blood pressure, long QT interval, dilation of the aortic root and left ventricular hypertrophy were documented. Elevated levels of urinary catecholamines together with the presence of a right-sided adrenal mass shown via abdominal ultrasound and magnetic resonance imaging were highly suggestive of a pheochromocytoma. This was confirmed by through iodine-123-metaiodobenzylguathdine ([
Language	English
Publishing date	2023-03-17
Publishing country	Switzerland
Document type	Case Reports
ISSN	2036-749X
ISSN	2036-749X
DOI	10.3390/pediatric15010019
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Endocrine-disrupting chemicals and their effects on puberty.

Lopez-Rodriguez, David / Franssen, Delphine / Heger, Sabine / Parent, Anne-Simone

Best practice & research. Clinical endocrinology & metabolism

2021 Volume 35, Issue 5, Page(s) 101579

Abstract: Sexual maturation in humans is characterized by a unique individual variability. Pubertal onset is a highly heritable polygenic trait but it is also affected by environmental factors such as obesity or endocrine disrupting chemicals. The last 30 years ... ...

Abstract	Sexual maturation in humans is characterized by a unique individual variability. Pubertal onset is a highly heritable polygenic trait but it is also affected by environmental factors such as obesity or endocrine disrupting chemicals. The last 30 years have been marked by a constant secular trend toward earlier age at onset of puberty in girls and boys around the world. More recent data, although more disputed, suggest an increased incidence in idiopathic central precocious puberty. Such trends point to a role for environmental factors in pubertal changes. Animal data suggest that the GnRH-neuronal network is highly sensitive to endocrine disruption during development. This review focuses on the most recent data regarding secular trend in pubertal timing as well as potential new epigenetic mechanisms explaining the developmental and transgenerational effects of endocrine disrupting chemicals on pubertal timing.
MeSH term(s)	Animals ; Endocrine Disruptors/toxicity ; Female ; Humans ; Male ; Obesity/chemically induced ; Obesity/epidemiology ; Obesity/genetics ; Puberty ; Puberty, Precocious/chemically induced ; Puberty, Precocious/epidemiology ; Puberty, Precocious/genetics ; Sexual Maturation
Chemical Substances	Endocrine Disruptors
Language	English
Publishing date	2021-09-17
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2052339-7
ISSN	1878-1594 ; 1532-1908 ; 1521-690X
ISSN (online)	1878-1594 ; 1532-1908
ISSN	1521-690X
DOI	10.1016/j.beem.2021.101579
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Article ; Online: Near adult height and BMI changes in growth hormone treated short children with Noonan syndrome: the Belgian experience.

De Schepper, Jean / Thomas, Muriel / Huysentruyt, Koen / Becker, Marianne / Boros, Emese / Casteels, Kristina / Chivu, Olimpia / De Waele, Kathleen / Dotremont, Hilde / Lysy, Philippe A / Massa, Guy / Parent, Anne-Simone / Rochtus, Anne / Gies, Inge

Hormone research in paediatrics

2024

Abstract: Introduction A variable near adult height (NAH) outcome after growth hormone (GH) therapy in Noonan syndrome (NS) patients with short stature has been reported. The main objective of this study was to evaluate NAH and body mass index (BMI) evolution in a ...

Abstract	Introduction A variable near adult height (NAH) outcome after growth hormone (GH) therapy in Noonan syndrome (NS) patients with short stature has been reported. The main objective of this study was to evaluate NAH and body mass index (BMI) evolution in a large Belgian cohort of NS patients treated for short stature. The secondary objectives were to investigate whether sex, genotype, the presence of a thoracic deformity and/or a heart anomaly might affect NAH and to validate the recently developed NAH prediction model by Ranke et al. Methods Clinical and auxological data of GH treated short NS patients born before 2001 were extracted from the national Belgrow registry. NAH was available in 54 (35 male) genotyped NS using a gene panel of 9 genes, showing pathogenic variants in PTPN11 in 32 and in SOS1 in 5 patients, while in 17 patients gene panel analysis was inconclusive (no mutation group). Results After a median (P10; P90) duration of 5.4 (2.2-10.3) years of GH therapy with a median dose of 0.05 mg/kg/day NS patients reached a median NAH of -1.7 (-3.4; -0.8) SDS. Median total height gain was 1.1 (0.1; 2.3) SDS. Sex, genotype and the presence of a thoracic or cardiac malformation did not correlate with NAH or total height gain. Linear regression modelling revealed that height SDS at start (beta=0.90, p<0.001), mid-parental height SDS (beta =0.27; p=0.005), birth weight SDS (beta=0.15; p=0.051), age at start (beta=0.07; p=0032) were independently associated with NAH SDS. Median BMI SDS increased significantly (p<0.001) from -1.0 (-2.5; 0.0) at start to -0.2 (-1.5; 0.9) at NAH. The observed NAH in a subgroup of 44 patients with more than 3 years of GH treatment was not statistically different from the predicted NAH by the Noonan NAH prediction model of Ranke. Conclusion Long-term GH therapy at a dose of 0.05 mg/kg/day in short NS patients is effective in improving adult height and BMI, irrespective of the genotype and presence or absence of cardiac and or thoracic anomalies.
Language	English
Publishing date	2024-03-01
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2537278-6
ISSN	1663-2826 ; 1663-2818
ISSN (online)	1663-2826
ISSN	1663-2818
DOI	10.1159/000538034
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Article ; Online: Secular trends in growth.

Fudvoye, Julie / Parent, Anne-Simone

Annales d'endocrinologie

2017 Volume 78, Issue 2, Page(s) 88–91

Abstract: Human adult height has been increasing world-wide for a century and a half. The rate of increase depends on time and place of measurement. Final height appears to have reached a plateau in Northern European countries but it is still increasing in ... ...

Abstract	Human adult height has been increasing world-wide for a century and a half. The rate of increase depends on time and place of measurement. Final height appears to have reached a plateau in Northern European countries but it is still increasing in southern European countries as well as Japan. While mean birth length has not changed recently in industrialized countries, the secular trend finally observed in adult height mostly originates during the first 2 years of life. Secular trend in growth is a marker of public health and provides insights into the interaction between growth and environment. It has been shown to be affected by income, social status, infections and nutrition. While genetic factors cannot explain such rapid changes in average population height, epigenetic factors could be the link between growth and environment.
Language	English
Publishing date	2017-06
Publishing country	France
Document type	Journal Article
ZDB-ID	299-9
ISSN	2213-3941 ; 0003-4266
ISSN (online)	2213-3941
ISSN	0003-4266
DOI	10.1016/j.ando.2017.04.003
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Article ; Online: Exposure to the pesticides linuron, dimethomorph and imazalil alters steroid hormone profiles and gene expression in developing rat ovaries.

Boberg, Julie / Johansson, Hanna K L / Franssen, Delphine / Draskau, Monica Kam / Christiansen, Sofie / Cramer, Johannah / Pedersen, Mikael / Parent, Anne-Simone / Svingen, Terje

Toxicology letters

2022 Volume 373, Page(s) 114–122

Abstract: Inhibition of androgen signaling during critical stages of ovary development can disrupt folliculogenesis with potential consequences for reproductive function later in life. Many environmental chemicals can inhibit the androgen signaling pathway, which ... ...

Abstract	Inhibition of androgen signaling during critical stages of ovary development can disrupt folliculogenesis with potential consequences for reproductive function later in life. Many environmental chemicals can inhibit the androgen signaling pathway, which raises the question if developmental exposure to anti-androgenic chemicals can negatively impact female fertility. Here, we report on altered reproductive hormone profiles in prepubertal female rats following developmental exposure to three pesticides with anti-androgenic potential: linuron (25 and 50 mg/kg bw/d), dimethomorph (60 and 180 mg/kg bw/d) and imazalil (8 and 24 mg/kg bw/d). Dams were orally exposed from gestational day 7 (dimethomorph and imazalil) or 13 (linuron) until birth, then until end of dosing at early postnatal life. Linuron and dimethomorph induced dose-related reductions to plasma corticosterone levels, whereas imazalil mainly suppressed gonadotropin levels. In the ovaries, expression levels of target genes were affected by linuron and dimethomorph, suggesting impaired follicle growth. Based on our results, we propose that anti-androgenic chemicals can negatively impact female reproductive development. This highlights a need to integrate data from all levels of the hypothalamic-pituitary-gonadal axis, as well as the hypothalamic-pituitary-adrenal axis, when investigating the potential impact of endocrine disruptors on female reproductive development and function.
Language	English
Publishing date	2022-11-21
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	433788-8
ISSN	1879-3169 ; 0378-4274
ISSN (online)	1879-3169
ISSN	0378-4274
DOI	10.1016/j.toxlet.2022.11.010
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Zs.A 1367: Show issues

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Article ; Online: Male minipuberty involves the gonad-independent activation of preoptic nNOS neurons.

Delli, Virginia / Dehame, Julien / Franssen, Delphine / Rasika, S / Parent, Anne-Simone / Prevot, Vincent / Chachlaki, Konstantina

Free radical biology & medicine

2022

Abstract: Background: The maturation of the hypothalamic-pituitary-gonadal (HPG) axis is crucial for the establishment of reproductive function. In female mice, neuronal nitric oxide synthase (nNOS) activity appears to be key for the first postnatal activation of ...

Abstract	Background: The maturation of the hypothalamic-pituitary-gonadal (HPG) axis is crucial for the establishment of reproductive function. In female mice, neuronal nitric oxide synthase (nNOS) activity appears to be key for the first postnatal activation of the neural network promoting the release of gonadotropin-releasing hormone (GnRH), i.e. minipuberty. However, in males, the profile of minipuberty as well as the role of nNOS-expressing neurons remain unexplored. Methods: nNOS-deficient and wild-type mice were studied during postnatal development. The expression of androgen (AR) and estrogen receptor alpha (ERα) as well as nNOS phosphorylation were evaluated by immunohistochemistry in nNOS neurons in the median preoptic nucleus (MePO), where most GnRH neuronal cell bodies reside, and the hormonal profile of nNOS-deficient male mice was assessed using previously established radioimmunoassay and ELISA methods. Gonadectomy and pharmacological manipulation of ERα were used to elucidate the mechanism of minipubertal nNOS activation and the maturation of the HPG axis. Results: In male mice, minipubertal FSH release occurred at P23, preceding the LH surge at P30, when balanopreputial separation occurs. Progesterone and testosterone remained low during minipuberty, increasing around puberty, whereas estrogen levels were high throughout postnatal development. nNOS neurons showed a sharp increase in Ser Conclusions: Our results show that the timing of minipuberty differs in male mice when compared to females, but as in the latter, nNOS activity in the preoptic region plays a role in this process. Additionally, akin to male non-human primates, the profile of minipuberty in male mice is shaped by sex-independent mechanisms, and possibly involves extragonadal estrogen sources.
Language	English
Publishing date	2022-12-02
Publishing country	United States
Document type	Journal Article
ZDB-ID	807032-5
ISSN	1873-4596 ; 0891-5849
ISSN (online)	1873-4596
ISSN	0891-5849
DOI	10.1016/j.freeradbiomed.2022.11.040
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