Endocrine management of transgender adolescents: Expert consensus of the french society of pediatric endocrinology and diabetology working group.

Introduction: Requests for hormonal transition in minors are increasing. To date, there is no national recommendation to guide these practices in France. Therefore, the SFEDP (French Society of Pediatric Endocrinology and Diabetology) has commissioned a group of experts to draft the first national consensus on this topic.

Quality of life in men with Klinefelter syndrome: a multicentre study.

Background: Klinefelter syndrome (KS) is associated with an increased risk of lower socioeconomic status and a higher risk for morbidity and mortality, which may have a significant impact on quality of life (QOL). The objective of this study is to investigate QOL in a large European cohort of men with KS.

Design: Cross-sectional multicentre study.

DICER1 syndrome and embryonal rhabdomyosarcoma of the cervix: a case report and literature review.

Background: Embryonal rhabdomyosarcomas (ERMS) of the uterine cervix and corpus are rare pediatric tumors usually associated with a late age of onset and frequent somatic DICER1 mutation. It may also develop in the context of a familial predisposition such as DICER1 syndrome requiring specific medical care for children and young adults at risk for a broad range of tumors.

Case Presentation: This is a case of a prepubescent 9-year-old girl who was presented to our department for metrorrhagias due to a vaginal cervical mass, initially classified as a müllerian endocervical polyp on negative myogenin immunostaining.

The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.

Introduction: Congenital hypothyroidism with gland-in-situ (CH-GIS) is usually attributed to mutations in the genes involved in thyroid hormone production. The diagnostic yield of targeted next-generation sequencing (NGS) varied widely between studies. We hypothesized that the molecular yield of targeted NGS would depend on the severity of CH.

Gonadal function in Noonan syndrome.

Noonan syndrome (NS) is a relatively common developmental disorder characterised by the association of craniofacial abnormalities, congenital heart defects, short stature and skeletal abnormalities, variable developmental delay/learning disability, and predisposition to certain cancers. NS is caused by germline mutations in genes encoding components or regulators of the RAS/mitogen-activated protein kinase (MAPK) signaling pathway. Although abnormalities in the hypothalamic-pituitary-gonadal axis have long been reported in NS patients, there is only scarce published data on this subject.

Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis.

Context: Congenital hypothyroidism (CH) is related to dyshormonogenesis in 15% to 40% of the world population and associated with homozygous or heterozygous variants in the main genes of the hormone synthesis pathway. Emerging diagnostic tools, such as next-generation sequencing (NGS), have been used to efficiently explore panels of genes and identify complex mechanisms of pathogenesis.

Objective: We explored 19 candidate genes known to be causative for permanent or transient CH to evaluate the role of complex gene variations in CH phenotype.

[Contraception for adolescent : CNGOF Contraception guidelines].

Objective: The goal is to establish dialogue and determine the needs and skill levels of adolescence. This concerns sexuality, the prevention of STIs, the informed choice of contraception to avoid an unplanned pregnancy. MéTHODES: A systematic review based on literature about contraception AND teenagers was performed using Pubmed, Cochrane, national and international recommendations.

Noonan syndrome males display Sertoli cell-specific primary testicular insufficiency.

Context Abnormalities in the hypothalamo-pituitary-gonadal axis have long been reported in Noonan syndrome (NS) males with only few data available in prepubertal children. Objective The aim of this study was to describe the gonadal function of NS males from childhood to adulthood. Design It is a retrospective chart review.

[[How to perform a gynecological examination in the girl]?].

How to perform a gynecological examination in the girl ? Precautionary gynecological examination is very important in the pre-pubescent girl, since it allows the diagnosis of most pathologies. Parents should be present in order to establish a climate of trust. The most suitable position is that of "the frog".

Pituitary Stalk Interruption Syndrome from Infancy to Adulthood: Clinical, Hormonal, and Radiological Assessment According to the Initial Presentation.

Background: Patients with pituitary stalk interruption syndrome (PSIS) are initially referred for hypoglycemia during the neonatal period or growth retardation during childhood. PSIS is either isolated (nonsyndromic) or associated with extra-pituitary malformations (syndromic).

Objective: To compare baseline characteristics and long-term evolution in patients with PSIS according to the initial presentation.

New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity.

Syndromic obesity is defined by the association of obesity with one or more feature(s) including developmental delay, dysmorphic traits, and/or congenital malformations. Over 25 syndromic forms of obesity have been identified. However, most cases remain of unknown etiology.

Ovarian masses in adolescent girls.

Ovarian masses are the most frequent gynecological pathology seen in adolescent girls. Functional or organic tumors of the ovary are usually benign and the incidence rises with age. Most cysts are functional and adnexal torsion is the main complication, but a malignant etiology must nevertheless always be eliminated.

Ovarian cysts in prepubertal girls.

Visualization of follicles is perfectly physiological during childhood, their diameter generally does not exceed 10 mm. Ovarian cyst in childhood is well defined for a fluid image >20 mm. Generally mild and asymptomatic, ovarian cysts are fluid formations usually discovered incidentally by ultrasound.

[Klinefelter's syndrome and Turner's syndrome. For a better management].

Klinefelter's syndrome (KS) affects one in 600 men and Turner's syndrome (TS), one in 2500 women. These 2 diseases are the most sex chromosome disorders characterized by one extra X in the SK male (47XXY) and the loss of an X in the girls with ST (45 X). Their common characteristic is the gonadal dysgenesis, which is the main cause of male or female infertility.

Fetal ovarian cysts management and ovarian prognosis: a report of 82 cases.

Background/purpose: Fetal ovarian cysts are frequently complicated by intracystic hemorrhage without associated clinical signs, which is often secondary to ovarian torsion leading to loss of the ovary. The aim of this study was to evaluate ovarian outcome and the place of prenatal management and surgery in the first few days of life in order to save the ovary.

Methods: Between January 1987 and June 2006, 82 fetal ovarian cysts in 79 patients were managed and clinically and ultrasonographically followed up for several months (median, 11 months; range, 6 months to 10 years) in all of the cases where the ovary was not removed.

[Turner's syndrome and procreation. Ovarian function and Turner's syndrome].

Ovarian failure is a typical feature in Turner's syndrome. The majority of follicles disappears prematurely after a normal determination of the ovary. This results from an accelerated loss of oocytes from the ovaries after the 18th week of fetal life or over a few postnatal years, usually before the onset of puberty.

[Normal puberty].

Puberty refers to a collection of somatic and psychic maturation phenomena, leading from juvenile to adult state. It is characterized by the development of secondary sex characteristics, growth spurt and changes in body composition and bone mineralization. It leads to the establishment of the reproductive function.

User trial of Easypod, an electronic autoinjector for growth hormone.

Objective: A new electronic injection device, the Easypod, has been developed to administer growth hormone (GH). This study assessed the use of this device in common practice.

Materials And Methods: Results are from the French arm (one centre) of an international, open-label, uncontrolled study.