Charles Sultan

Charles Sultan
Johns Hopkins University | JHU · Department of Pediatrics

M.D.,Ph.D ,Professor ,chairman

About

560
Publications
48,341
Reads
How we measure 'reads'
A 'read' is counted each time someone views a publication summary (such as the title, abstract, and list of authors), clicks on a figure, or views or downloads the full-text. Learn more
11,498
Citations
Introduction
Chief,Ped Endocrine Unit, Univ Hospital of Montpellier,France -Director National teaching program in Ped Adol Gynecol -Member,Task Force on Pesticides
Additional affiliations
January 2004 - January 2012
Institut de Génétique Humaine
Position
  • clin research
January 1986 - September 2015
Centre Hospitalier Universitaire de Montpellier
Position
  • Professor of clinical,biological and molecular Pediatric Endocrinology)
Description
  • -Dis of Sex Develpt -Precoc puberty -growth disord -adol gynecol -endoc conseq of Endoc disrupt -pubert disord
January 1986 - January 2014
Université de Montpellier
Position
  • CEO
Education
June 1977 - October 1978
Johns Hopkins Medicine
Field of study
  • Pediatric endocrinology

Publications

Publications (560)
Article
This study investigated the potential role of quantitative ultrasound (QUS) to assess low bone mass in anorexia nervosa patients (AN). Bone parameters from QUS and DXA were positively correlated and significantly reduced in AN compared with controls, suggesting that QUS is a pertinent technique to assess low bone mass in these patients.PurposeThe a...
Chapter
Adolescent PCOS may have its origins in fetal life (intrauterine growth retardation, hyperandrogenism) or before puberty (through premature pubarche, obesity, early puberty). In the last few years, evidence has clearly emerged showing that peri-puberty is a high-risk period for PCOS development, through obesity and secondary insulin resistance, met...
Article
Full-text available
Background: Psychiatric disorders in children exposed in utero to diethylstilbestrol (DES) are still debated. We report here the impact of DES prescribed to suppress lactation on the children born after such treatment and their progeny, focusing particularly on psychiatric disorders. Case presentation: We report here an informative family in whi...
Article
Résumé Depuis une vingtaine d'années, de plus en plus de travaux cliniques, épidémiologiques et expérimentaux confirment l’impact des perturbateurs endocriniens environnementaux (PEE) sur la réduction de la fertilité masculine et féminine. Le concept de l’origine fœtale d’une pathologie à l’âge adulte s’est renforcé plus particulièrement dans le do...
Article
Full-text available
Background Endometriosis, which affects 10–15 % of women of reproductive age, is an estrogen-driven condition influenced by environmental and genetic factors. Exposition to estrogen-like endocrine-disrupting chemicals (EDCs) has been reported to contribute to the fetal origin of this disease. Case presentation We report here an informative family...
Article
Full-text available
This paper reviews the current knowledge on the environmental effects on penile development in humans. The specific focus is on endocrine-disrupting chemicals (EDCs), a heterogeneous group of natural or manmade substances that interfere with endocrine function, and whether they can induce hypospadias and micropenis in male neonates. Epidemiological...
Article
Full-text available
Previous studies have demonstrated that endocrine disruptors (EDs) can promote the transgenerational inheritance of disease susceptibility. Among the many existing EDs, 2,3,7,8-tetrachlordibenzo-p-dioxin (TCDD) affects reproductive health, including in humans, following direct occupational exposure or environmental disasters, for instance the Agent...
Article
Full-text available
Objective: Disorders of sex development (DSD) are defined as congenital conditions in which development of chromosomal, gonadal and anatomical sex is atypical. Despite wide laboratory and imaging investigations, the etiology of DSD is unknown in over 50% of patients. Methods: We evaluated the etiology of DSD by whole-exome sequencing (WES) at a mea...
Article
Background Next-generation sequencing (NGS) is generally used for patients with severe disorders of sex development (DSD). However, NGS has not been applied extensively for patients with hypospadias only, and most affected children do not benefit from an etiological diagnosis. Objective To evaluate the clinical usefulness of NGS for patients with...
Chapter
Studies of psychiatric effects of progestins on in utero exposed children’s central nervous system (CNS) are scarce. Psychoses such as schizophrenia and bipolarity were described for in utero exposed children to progestins in a French cohort. Psychiatric disorders observed in these patients were compared with CNS disorders that appeared after in ut...
Article
To date, vaginal/cervical clear cell adenocarcinoma (CCAC) has not been reported in the granddaughters of women treated with diethylstilbestrol (DES) during pregnancy. We present an 8-year-old girl with a history of severe vaginal bleeding who was diagnosed with cervical CCAC. She underwent fertility-sparing surgery and radiotherapy. No sign of rec...
Article
Full-text available
Objectif Comprendre les bases moléculaires des insensibilités complètes aux androgènes (ICA) avec une séquence codante du RA normale. Patients et méthodes Deux patientes de 37 et 36 ans avec un phénotype typique d’ICA. Le diagnostic d’ICA a été évoqué pour la première dans l’enfance du fait de la palpation de gonades inguinales, et de l’absence d’...
Article
Hyperandrogenism is frequent and under investigated in adolescent girls. A 15-year-6-month-old French girl presented with oligomenorrhea and slowly progressing virilization 2 years post-menarche. Medical history revealed prenatal pesticide exposure through maternal professional activity and recurrent premature thelarche. Severe hirsutism, mild faci...
Article
Objective The threefold aim was to (1) compare areal bone mineral density (aBMD), bone turnover markers, and periostin levels in young women with either anorexia nervosa (AN) or obesity (OB) and controls (CON); (2) model the profiles according to age; and (3) determine the parameters associated with aBMD. Subjects and methods One hundred and fifty...
Article
Purpose: Testotoxicosis is an autosomal dominant form of limited gonadotropin-independent precocious puberty in boys. It is caused by a heterozygous constitutively activating mutation of the LHCGR gene encoding the luteinizing/hormone receptor (LHR). Some twenty mutations of the LHCGR gene have been reported. Most of them are constitutive mutations...
Chapter
Androgen excess in adolescent girls produces a variety of clinical signs that must be appropriately recognized, evaluated, and treated. Hyperandrogenism must be considered in any adolescents with excessive development of acne, hirsutism, menstrual irregularities, abdominal obesity, or masculinization of the body habitus. Management of adolescent gi...
Article
Introduction: To evaluate if torsion of an otherwise healthy ovary (THO) has a different prognosis than torsion with an underlying ovarian mass (TUOM) in children. Material and methods: Children with an ovarian torsion who were treated in our department from 1997 to 2016 were studied retrospectively. Patients with prenatal ovarian torsion and is...
Article
Full-text available
Objective To evaluate the potentially protective effects of oral contraceptives (OC) on bone loss in a large population of young women with anorexia nervosa (AN). Design Cross-sectional study. Setting University hospital. Patient(s) Three hundred and five patients with AN (99 of them using OC) and 121 age-matched controls. Intervention(s) None....
Article
Objectives 1‐To report the clinical spectrum of genital defects diagnosed before birth, 2‐ to identify predictive factors for severe phenotypes at birth 3‐ to determine the rate of associated malformations. Methods A retrospective study (2008‐2017) of 4580 fetuses identified prenatally with abnormalities evaluated by our Reference Center for Fetal...
Article
Full-text available
The medical and scientific communities have not yet fully acknowledged the undesirable effects of the synthetic hormones that have been administered to pregnant women for decades. The somatic effects of in utero exposure to diethylstilbestrol (DES), such as genital malformations, infertility, and cancer, have long been recognized but this has not b...
Article
Objective: Changes of sex hormone levels in disorders of sex development (DSD) can affect the body, including the vocal folds, during and after foetal development. The voice is a gender characteristic that may also be affected. There is a lack of knowledge on voice alteration in DSD. To explore this in different forms of DSD, we describe the preval...
Article
During the last decade, a tremendous amount of work has been devoted to the study of the molecular genetics of isolated hypospadias and cryptorchidism, two minor forms of disorders of sex development (DSD). Beyond the genes involved in gonadal determination and sex differentiation, including those underlying androgen biosynthesis and signaling, new...
Article
Full-text available
Mutations of the androgen receptor (AR) gene are the most frequent cause of 46,XY disorders of sex development. They are associated with a variety of phenotypes, ranging from phenotypic women (complete androgen insensitivity syndrome, CAIS) to milder degrees of undervirilization (partial forms) or men with only infertility (mild form). We identifie...
Article
Full-text available
On 28 April 2018 the European Parliament voted for a complete and permanent ban on all outdoor uses of the three most commonly used neonicotinoid pesticides. With the partial exception of the state of Ontario, Canada, governments elsewhere have failed to take action. Below is a letter, signed by 232 scientists from around the world, urgently callin...
Article
Full-text available
Objective This study compared the profiles of the two types of anorexia nervosa (AN; restrictive: AN‐R, and binge eating/purging: AN‐BP) in terms of body composition, gynaecological status, disease history, and the potential effects on bone metabolism. Design Two hundred and eighty‐six women with AN (21.8 ± 6.5 years; 204 AN‐R and 82 AN‐BP) and 13...
Article
Purpose: While familial forms of complex disorders/differences of sex development have been widely reported, data regarding isolated hypospadias are sparse and a family history is thought to be less frequent. We aimed to determine the frequency of hypospadias in families of boys with hypospadias, to establish whether these familial forms exhibit a...
Article
Background: Information on the psychosexual outcome of individuals with disorders of sex development (DSDs) and intersex conditions is of great importance for sex assignment at birth of newborns with DSD. Aim: To assess gender change and gender dysphoria in a large sample of individuals with different DSDs. Methods: A cross-sectional study was...
Article
Over the past 20 years, a clear secular trend toward the earlier onset of puberty has been described. A better knowledge should help clinicians attempting to define both precocious and delayed puberty (PP and DP, respectively). The definition of PP for girls is the appearance of secondary sex characteristics development before the age of 8 years, w...
Article
Full-text available
Objective: To investigate fertility outcome in individuals with different forms of disorders of sex development (DSD), if assisted reproductive technology (ART) was used, and the patients' satisfaction with the information they had received. Design: A cross-sectional multicenter study, dsd-LIFE. Setting: Not applicable. Patient(s): A total o...
Article
Full-text available
Objective: Disorders of sex development (DSD) are a heterogeneous group of conditions affecting the differentiation and development of the internal and external genitalia. Here, we aimed at identifying the genetic cause of DSD in two 46,XY sisters from a consanguineous family. Design: We performed a whole-exome sequencing of two 46,XY female ind...
Chapter
Anorexia nervosa (AN) is characterized by an intense fear of becoming fat despite an obvious thinness and extreme behaviours for weight loss, such as food restriction with or without self-induced vomiting or use of laxatives. The result is a massive weight loss and/or pathological thinness. Amenorrhoea is an important associated feature of the dise...
Chapter
Pubertal maturation involves two associated processes: adrenarche due to adrenal androgen production and gonadarche linked to the reactivation of the hypothalamus-pituitary-gonadal axis.
Chapter
Malformations of the external genitalia, formerly referred to as ambiguous genitalia, are today categorized as disorders of sex differentiation (DSD) [1]. They are secondary to the undervirilization of the 46,XY fetus or the excessive masculinization of the 46,XX fetus. These malformations are usually discovered in the neonatal period during the sy...
Chapter
Puberty leads to the completion of sexual maturation along with the acquisition of reproductive competence. It is the culmination of a complex series of maturational events which lead to the acquisition of an active pulsatility of gonadotropin-releasing hormone (GnRH) neurons, under the critical regulation of the Kisspeptine-Gpr54 signaling pathway...
Chapter
The premature appearance of secondary sexual characteristics like breast development and pubic hair is upsetting and prompts many families to consult endocrinologists. Yet the management of precocious puberty is not always straightforward [1], especially given the unusually wide range of clinical expression: most presentations of precocious puberty...
Book
This volume provides a comprehensive, up-to-date overview on pediatric and adolescent gynecological endocrinology. It covers a very wide range of topics with a particular focus on disorders of sex differentiation, pubertal maturation, growth disorders, primary and secondary amenorrhea, menstrual disorders in adolescents and young adults, sexuality,...
Article
Steroidogenic factor 1 (encoded by SF1/NR5A1) is a transcription factor with multiple target genes involved in the development and function of multiple steroidogenic and non-steroidogenic tissues. NR5A1 mutations lead to several phenotypes, including sex reversal, spermatogenesis failure, premature ovarian failure and adrenocortical insufficiency....
Article
Résumé La participation à une activité physique de loisir est largement reconnue pour offrir des avantages importants pour la santé. À l’inverse, un entraînement trop intensif génère de nombreux stress intermittents ou chroniques d’ordres métaboliques et psychologiques associés à un faible poids corporel pour maximiser les performances. Les adolesc...
Article
Introduction Le gène NR5A1 code pour le facteur stéroïdogénique de transcription (SF-1), très impliqué dans la différenciation sexuelle, entraînant en cas de mutation un tableau clinique de DSD 46XY extrêmement polymorphe, associé ou non à une insuffisance surrénalienne. Observation Fille de 19 ans, en aménorrhée primaire, sportive de haut niveau,...
Article
Introduction La FSH est impliquée dans le contrôle sertolien de la spermatogenèse. D’exceptionnelles mutations de la sous-unité bêta de la FSH ont été observées dans des cas d’azoospermie ou d’anomalies sévères de la spermatogénèse mais avec inhibine B basse. Observations Nous rapportons l’exploration de deux patients infertiles présentant une FSH...
Article
Full-text available
Hashimoto’s thyroiditis is a well-known cause of growth retardation in adolescence. It is less frequently seen in children and rarely seen in infants. A 4-year-old girl was referred to our clinic for a second opinion before starting growth hormone (GH) treatment. Linear growth had markedly declined in the past 2 years, with height −3.4 standard dev...
Article
Pubertal gynecomastia is a common condition observed in up to 65% of adolescent males. It is usually idiopathic and tends to regress within 1-2 years. In this descriptive cross-sectional study, we investigated 25 adolescent males with prominent (>B3) and/or persistent (>2 years) pubertal gynecomastia (P/PPG) to determine whether a hormonal/genetic...
Conference Paper
Full-text available
Aim of the work In utero diethylstilbestrol (DES) exposure has been demonstrated to be associated with somatic abnormalities in adult men and women as well as shown for its trangenerationnal effect (1). Conversely, the data are contradictory regarding the association with psychological or psychiatric disorders during adolescence and adulthood (2)....
Article
Recent experimental data suggest that circulating serotonin interacts with bone metabolism, although this is less clear in humans. This study investigated whether serum serotonin interferes with bone metabolism in young women with anorexia nervosa (AN), a clinical model of energy deprivation. Serum serotonin, markers of bone turnover [osteocalcin (...
Article
Full-text available
Juvenile granulosa cell tumors (JGCTs) of the ovary are pediatric neoplasms representing 5% of all granulosa cell tumors (GCTs). Most GCTs are of adult type (AGCTs) and bear a mutation in the FOXL2 gene. The molecular basis of JGCTs is poorly understood, although mutations in the GNAS gene have been reported. We have detected in-frame duplications...
Article
Introduction Le déficit en 5a-réductase de type 2 est une DSD46XY qui peut être diagnostiquée en péri-pubertaire du fait d’une virilisation secondaire liée à la srd5A1, posant alors le choix entre réassignation dans le sexe masculin ou maintien de l’état civil féminin avec gonadectomie, reconstruction chirurgicale et estrogénothérapie. La littératu...
Article
Full-text available
The genital system is derived from the urogenital ridge and the primordial germ cells migrate from the posterior extremity of the embryo at 6th week to participate in the formation of the primitive sex cords. The sex-determining region Y (SRY) gene is necessary to induce the male determination and subsequent genital differentiation. The female geni...
Article
Low bone mass is a consequence of anorexia nervosa (AN). This study assessed the effects of energy deficiency on various bone and hormonal parameters. The interrelationships between energy deficiency and bone remodelling, glucose homeostasis and adipokines underscore the importance of preventing energy deficiency to limit demineralisation and hormo...
Article
Full-text available
In utero diethylstilbestrol (DES) exposure has been demonstrated to be associated with somatic abnormalities in adult men and women. Conversely, the data are contradictory regarding the association with psychological or psychiatric disorders during adolescence and adulthood. This work was designed to determine whether prenatal exposure to DES affec...
Article
Numerous studies have focused on the association between endocrine-disrupting chemicals (EDCs) and hypospadias. Phenotype variability, the absence of representative comparison groups and concomitant genetic testing prevent any definitive conclusions. To identify the role of occupational and environmental exposures to EDCs in nongenetic isolated hyp...
Article
Acne occurs because the sebaceous glands are overstimulated by high levels of androgens or are hypersensitive to normal levels of testosterone. In women with mild or moderate acne, the association of norgestimate (NG), and ethinyl estradiol (EE) is an effective treatment. This is related to the effect of oral contraceptives on androgen production a...
Article
McCune-Albright syndrome (MAS), due to a somatic mutation of the GNAS1 gene, begins usually in girls with peripheral precocious puberty. Ovarian autonomy may persist in adulthood with acyclic hyperestrogenemia, infertility, and a potential risk of estrogen-dependent cancer. A 22-year-old woman, with MAS, was referred for infertility with left macro...
Article
Full-text available
Ovarian granulosa cell tumors are the most common sex-cord stromal tumors and have juvenile (JGCTs) and adult forms. In a previous study we reported the occurrence of activating somatic mutations of Gαs, which transduces mitogenic signals, in 30% of the analyzed JGCTs. We have searched for alterations in other proteins involved in ovarian mitogenic...
Chapter
Androgen excess during puberty produces a variety of clinical signs and symptoms that need to be recognized, evaluated, and promptly treated. In addition to the cosmetic concerns and psychological distress it causes, hyperandrogenism impairs hypothalamic sensitivity to progesterone, resulting in a persistent, rapid gonadotropin-releasing hormone (G...
Article
Full-text available
The use of complementary and alternative medicine and herbal products, especially traditional Chinese medicines, is progressively rising for both adults and children. This increased use is based on the popular belief that these medicines are safe and harmless. In this report, we describe the results of a bedside-to-bench study that involved a short...
Conference Paper
Background: The investigation of patients with 46,XY DSD is often difficult, with no definitive diagnosis in more than 50% of cases investigated. We describe a new mutation of MAMLD1 in a patient with 46,XY DSD who also showed an alteration in the NR5A1 gene. Case report: A 5-year-old boy was referred to our clinic for DSD. He was born to non-cons...
Article
Abstract Adolescence has been described as period of life when emotions are heightened and regulatory controls are reduced, and this can result in an escalation in risk-taking. Importantly for younger females, risk behaviors associated with the onset of sexual activity, and alcohol and substance abuse may coincide with pathologies such as polycysti...