LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss.

Premature ovarian insufficiency (POI) affects 1 in 100 women and is a leading cause of female infertility. There are over 80 genes in which variants can cause POI, with these explaining only a minority of cases. Whole exome sequencing (WES) can be a useful tool for POI patient management, allowing clinical care to be personalized to underlying cause.

Prevalence of dysmenorrhea in adolescents in France: Results of a large cross-sectional study.

Backgrounds: Dysmenorrhea is the most common gynecological complaint in young women but is overlooked by recent studies. Our objective was to evaluate the prevalence of dysmenorrhea in adolescents in France and its impact on daily living.

Methods: It was a cross-sectional study conducted between April-May 2019, in eight randomly selected high schools in France.

Puberty and fertility in classic galactosemia.

Classic galactosemia is a rare inborn error of galactose metabolism with a birth prevalence of about 1/30,000-60,000. Long-term complications occurring despite dietary treatment consist of premature ovarian insufficiency (POI) and neurodevelopmental impairments. We performed with the French Reference Centers for Rare Diseases a multisite collaborative questionnaire survey for classic galactosemic patients.

Equivalent live-birth rate in antagonist IVF/ICSI protocol after oocyte triggering with GnRH agonist supplemented with 1500 r-hCG the day of oocyte retrieval vs r-hCG : A case-control study.

Objective: To compare live birth rate after fresh transfer and cumulative birth rates after vitrified embryo transfer in patients triggered by GnRHa, and 1500 r-hCG bolus on the day of the pick up to a selected population of patients triggered by r-hCG.

Design: Retrospective case-control study SETTING: Private hospital, Rennes, France PATIENTS: Patients with more than 18 follicles greater than 11 mm on the day of the triggering, or patients with a history of OHSS INTERVENTION: We triggered according to the European protocol by GnRHa and a bolus of 1500 UI of r-HCG on the day of the pick-up and performed if possible a fresh transfer on day 2, 3 or 5.

Main Outcome Measure: The live birth rate using fresh transfer (FT) and the cumulative birth rate by cycle of FT and frozen embryo transfer (FET) between patients triggered by GnRHa with a bolus injection of 1500 r-hCG and patients triggered by r-hCG.

Surgery is not superior to dilation for the management of vaginal agenesis in Mayer-Rokitansky-Küster-Hauser syndrome: a multicenter comparative observational study in 131 patients.

Background: Vaginal agenesis in Mayer-Rokitansky-Küster-Hauser syndrome can be managed either by various surgeries or dilation. The choice still depends on surgeon's preferences rather than on quality comparative studies and validated protocols.

Objective: We sought to compare dilation and surgical management of vaginal agenesis in Mayer-Rokitansky-Küster-Hauser syndrome, in terms of quality of life, anatomical results, and complications in a large multicenter population.

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.

Background: Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a multisystem inborn error of metabolism.

Objectives: To better characterise the natural history of PMM2-CDG.

Methods: Medical charts of 96 patients with PMM2-CDG (86 families, 41 males, 55 females) were retrospectively reviewed.

High Prevalence of Polycystic Ovary Syndrome in Type 1 Diabetes Mellitus Adolescents: Is There a Difference Depending on the NIH and Rotterdam Criteria?

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.

Efficacy and Safety of Continuous Subcutaneous Infusion of Recombinant Human Gonadotropins for Congenital Micropenis during Early Infancy .

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).

Long-term outcome of ovarian function in women with intermittent premature ovarian insufficiency.

Context: Spontaneous resumption of ovarian function is not a rare phenomenon in patients with premature ovarian insufficiency (POI). The outcome of this resumption is not known.

Objective: To describe the outcome following the resumption of ovarian function in POI patients.

Fertility preservation in Turner syndrome.

Premature ovarian insufficiency is a relatively rare condition that can appear early in life. In a non-negligible number of cases the ovarian dysfunction results from genetic diseases. Turner syndrome (TS), the most common sex chromosome abnormality in females, is associated with an inevitable premature exhaustion of the follicular stockpile.

Inadequate cortisol response to the tetracosactide (Synacthen®) test in non-classic congenital adrenal hyperplasia: an exception to the rule?

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.

[Contraception and congenital heart disease].

Contraception counselling should be an integral part of any adolescent or adult congenital heart disease program. Both the cardiovascular safety and contraceptive efficacy of each contraceptive method should be considered for each cardiac condition. The method recommended should combine acceptability to the woman with the highest efficacy and safety profile.

Resumption of ovarian function and pregnancies in 358 patients with premature ovarian failure.

Context: Resumption of ovarian activity and spontaneous pregnancies are described in patients with premature ovarian failure (POF), but there is a lack of data concerning the prevalence of and predictive factors for these phenomena.

Objective: The aim of the study was to determine both the prevalence of and predictive factors for spontaneous resumption of ovarian function in POF patients.

Design And Setting: A mixed retrospective and prospective study was performed at a referral center for reproductive endocrinology.

Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Objective: In contrast to subfertility often reported in women suffering from the classical form of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, fertility in nonclassical CAH (NC-CAH) has been rarely studied. Our objective was to evaluate fertility in NC-CAH women.

Material And Methods: We studied 190 NC-CAH women (161 probands + 29 first degree relatives).

A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes.

Context: Both biallelic and monoallelic mutations in PROK2 or PROKR2 have been found in Kallmann syndrome (KS).

Objective: The objective of the study was to compare the phenotypes of KS patients harboring monoallelic and biallelic mutations in these genes.

Design And Patients: We studied clinical and endocrine features that reflect the functioning of the pituitary-gonadal axis, and the nonreproductive phenotype, in 55 adult KS patients (42 men and 13 women), of whom 41 had monoallelic mutations and 14 biallelic mutations in PROK2 or PROKR2.

Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members.

Context: Nonclassical congenital adrenal hyperplasia (NC-CAH) due to partial 21-hydroxylase deficiency is one of the most frequent autosomal recessive diseases.

Objective: The aim of this study was to determine the genotype/phenotype relationship in probands and family members.

Patients And Methods: A total of 161 NC-CAH unrelated women diagnosed on late-onset symptoms, mainly hirsutism, and post-ACTH 17-hydroxyprogesterone more than 10 ng/ml, and 330 of their relatives was explored.

Premature ovarian failure: predictability of intermittent ovarian function and response to ovulation induction agents.

Purpose Of Review: To summarize our current knowledge about the predictability of intermittent ovarian function and the response to ovulation induction agents in patients with premature ovarian failure.

Recent Findings: In addition to clinical, histological or ultrasonographic features, a new biological marker anti-Müllerian hormone, was evaluated as a marker for ovarian reserve in premature ovarian failure patients with encouraging results. Moreover, even if no treatment has proven to be effective enough to restore ovarian function, a recent study has presented a therapeutic protocol leading to a significant increase in ovulation and a higher pregnancy rate.