Publications by authors named "Samara-Boustani D"
Objective: Adreno CorticoTropic Hormone (ACTH)-independent Cushing's syndrome (CS) in children is very rare but potentially fatal. In bilateral nodular hyperplasia, synchronous bilateral adrenalectomy (SBA) represents the definitive treatment to correct hypercortisolism. We aim to report the multidisciplinary management of this rare condition.
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- * The French Endocrine Society and associated organizations created a reference document to address the complexities of managing these tumors, which can recur and lead to serious health issues, including impaired quality of life for patients, especially those with hypothalamic syndrome.
- * Recent research has identified two tumor types—papillary and adamantinomatous—with different molecular signatures and treatment strategies, prompting ongoing developments in therapeutic options, including new medications for associated symptoms like hyperphagia.
Objective: Adamantinomatous craniopharyngioma mainly affects children. Excessive weight gain is a major long-term complication. The primary objective of this study was to assess long-term weight changes in children treated for craniopharyngioma.
View Article and Find Full Text PDFBackground: While the risk for hypoglycemia during acute illness is well described in children with classical congenital adrenal hyperplasia (CAH), there is little evidence for the prevalence of asymptomatic hypoglycemia and the daily glucose patterns in CAH. Herein, we explored the daytime glucose profile of children with classical CAH.
Methods: We conducted an observational study in 11 children (6 female; age 3.
Identifying patient-related predictors of permanent growth hormone deficiency.
Front Endocrinol (Lausanne)
November 2023
Objective: Isolated childhood growth hormone deficiency (GHD) can persist into adulthood, and re-testing at the transition period is needed to determine whether continued growth hormone therapy is indicated. Here, our objective was to identify predictors of permanent GHD.
Design: Retrospective single-centre study of patients with childhood-onset GHD who were re-tested after adult height attainment.
Context: Endocrine complications are common in pediatric brain tumor patients.
Objective: To describe hypothalamic-pituitary-gonadal axis (HPGA) function in patients treated in childhood for a primary brain tumor more than 5 years earlier, in order to identify risk factors for HPGA impairment.
Methods: We retrospectively included 204 patients diagnosed with a primary brain tumor before 18 years of age and monitored at the pediatric endocrinology unit of the Necker Enfants-Malades University Hospital (Paris, France) between January 2010 and December 2015.
Article Synopsis
- Craniopharyngioma is a benign brain tumor that often leads to GH deficiency in children, prompting the use of growth hormone replacement therapy (GHRT).
- A study analyzed the timing of GHRT initiation post-treatment in 71 affected patients, grouping them based on whether they started treatment before or after 12 months.
- Results showed no significant difference in the risk of tumor recurrence or progression between patients who started GHRT sooner versus those who waited longer, indicating that the timing of therapy may not impact clinical outcomes.
Article Synopsis
- The study analyzed changes in the diagnosis and management of patients with two types of genetic deficiencies (SRD5A2 and HSD17B3) from 1994 to 2020, focusing on current diagnostic practices.
- Out of 52 patients, over half were diagnosed at birth, with a trend showing earlier diagnoses for those born after 2007, and a notable shift in initial sex assignment from predominantly female to increasingly male.
- Genetic testing revealed a variety of mutations in both genes, and the study concluded that there’s been a significant change in clinical approaches and therapeutic interventions based on evolving understanding of these conditions.
Article Synopsis
- - Turner syndrome (TS) is a rare genetic condition affecting about 1 in 2,500 liveborn girls, characterized by the absence of all or part of an X chromosome, with common karyotypes being 45,X and 45,X/46,XX mosaic.
- - The French National Diagnosis and Care Protocol (PNDS) aims to guide healthcare professionals in managing TS, providing insights based on expert consensus and literature review from the French National Reference Center for Rare Growth and Developmental Endocrine disorders.
- - TS can lead to several health issues, including growth retardation, gonadal dysgenesis, and increased risk of various congenital and acquired diseases, necessitating a collaborative approach among healthcare providers for effective patient
Article Synopsis
- Pediatric brain tumor patients often experience endocrine complications, requiring long-term follow-up due to a high incidence of disorders like growth hormone deficiency (GHD) and hypothyroidism.
- The study analyzed medical records of 221 patients, revealing significant differences between tumors located suprasellar and non-suprasellar, particularly in hormone deficiencies and post-treatment effects.
- The findings emphasize the need for regular endocrine consultations and nutritional evaluations for these patients, with a particular focus on those with suprasellar tumors or those who have undergone hypothalamus/pituitary radiation.
Article Synopsis
- The study focuses on a rare condition called 46,XX SRY-negative testicular and ovotesticular disorders/differences of sex development (T/OTDSD), where testicular tissue develops without a Y chromosome, and aims to understand its phenotype, management, and outcomes.
- Sixteen patients were reviewed, with the majority diagnosed as newborns, showing varied gender rearing and degrees of external masculinization, while some received treatment to prevent virilization.
- Results revealed successful gonadal surgery in most cases, with some achieving spontaneous puberty or requiring hormonal treatments, and one patient having a successful pregnancy, along with genetic analyses identifying a mutation in the NR2F2 gene in one individual.
Objective: Short stature in children and adolescents may lead to social and emotional stress, with negative effects on quality of life (QoL). GH treatment may improve QoL through height normalization. Our objective here was to evaluate general and height-specific QoL after 1 year of GH treatment.
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- - The study investigates the clinical outcomes of boys with 45,X/46,XY mosaicism who have a normal or slightly abnormal male phenotype, focusing on their growth and puberty development from 1982 to 2017.
- - Results show that many of these boys experience stunted growth and related health issues, with about 70% exhibiting features similar to Turner syndrome and most experiencing puberty but with declining testicular function.
- - The findings highlight the importance of early diagnosis and continuous monitoring of these patients to manage potential fertility issues, as many are diagnosed later in life with conditions like azoospermia.
Background: Polycystic ovary syndrome (PCOS) is more frequently observed in type 1 diabetes mellitus (T1DM) adult women than in nondiabetic women. No such prevalence has yet been studied in adolescent girls with T1DM.
Aim: The aim of this study was to evaluate the prevalence of PCOS in adolescent girls with T1DM and to determine the clinical and hormonal features associated with the disorder.
Background: Early postnatal administration of gonadotropins to infants with congenital hypogonadotropic hypogonadism (CHH) can mimic minipuberty, thereby increasing penile growth. We assessed the effects of gonadotropin infusion on stretched penile length (SPL) and hormone levels in infants with congenital micropenis.
Methods: Single-center study including 6 males with micropenis in case of isolated CHH (n = 4), panhypopituitarism (n = 1), and partial androgen insensitivity syndrome (PAIS; n = 1).
Objective: Nicotinamide nucleotide transhydrogenase (NNT), one of the several genes recently discovered in familial glucocorticoid deficiencies (FGD), is involved in reactive oxygen species detoxification, suggesting that extra-adrenal manifestations may occur, due to the sensitivity to oxidative stress of other organs rich in mitochondria. Here, we sought to identify NNT mutations in a large cohort of patients with primary congenital adrenal insufficiency without molecular etiology and evaluate the degree of adrenal insufficiency and onset of extra-adrenal damages.
Methods: Sanger or massive parallel sequencing of NNT and patient monitoring.
Aims: To describe cortisol response to tetracosactide and to review the literature on adrenal function in non-classic congenital adrenal hyperplasia (NCCAH) patients.
Methods: We compared cortisol responses to tetracosactide (250 μg) between NCCAH patients and a comparison group (CG) of patients with premature pubarche and normal tetracosactide test. An adequate cortisol response was defined as a peak ≥18 μg/dl.
Background: Patients with brain tumours have a high risk of water and electrolyte disorders (WED). Postsurgery diabetes insipidus (DI) may be transient or permanent, the syndrome of inappropriate antidiuretic hormone secretion (SIADH) and cerebral salt-wasting syndrome (CSWS) are usually transient.
Methods: Retrospective study, including patients with suprasellar tumours, treated at Hôpital Necker, Institut Gustave-Roussy or Institut Curie, in Île-de-France, between 2007 and 2011.
Background/aims: Hypochondroplasia (HCH) is a skeletal dysplasia characterized by disproportionate short stature. The aims of the study are to evaluate efficacy and safety of recombinant human growth hormone (r-hGH) therapy in HCH children, when compared with a historical cohort of untreated HCH children.
Methods: Nineteen HCH patients with an initial height standard deviation score (SDS) ≤-2 and a mean age of 9.
Background: P450 aromatase (CYP19A1) is essential for the biosynthesis of estrogens from androgen precursors. Mutations in the coding region of CYP19A1 lead to autosomal recessive aromatase deficiency. To date over 20 subjects have been reported with aromatase deficiency which may manifest during fetal life with maternal virilization and virilization of the external genitalia of a female fetus due to low aromatase activity in the steroid metabolizing fetal-placental unit and thus high androgen levels.
View Article and Find Full Text PDFObjective: The prevalence of severe primary IGF1 deficiency (IGFD) is unclear. IGFD must be identified promptly as treatment with recombinant human IGF1 (rhIGF1) is now available. Our objective was to characterize and assess the prevalence of severe primary IGFD in a large cohort of patients evaluated for short stature at a pediatric endocrinology unit in France.
View Article and Find Full Text PDFObjective: To assess the prevalence of skeletal dysplasias (SDs) in patients with idiopathic short stature (ISS) or small for gestational age (SGA) status.
Setting: Rare Endocrine/Growth Diseases Center in Paris, France.
Design: A prospective study on consecutive patients with ISS and SGA enrolled from 2004 to 2009.