Search Results - "Ropelato, Maria Gabriela"
-
1
Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome
Published in Frontiers in genetics (11-03-2024)“…Pubertal delay can be due to hypogonadotropic hypogonadism (HH), which may occur in association with anosmia or hyposmia and is known as Kallmann syndrome…”
Get full text
Journal Article -
2
Hypogonadotropic Hypogonadism in Infants with Congenital Hypopituitarism: A Challenge to Diagnose at an Early Stage
Published in Hormone research in paediatrics (01-01-2015)“…Combined pituitary hormone deficiency (CPHD) presents a wide spectrum of pituitary gland disorders. The postnatal gonadotropic surge provides a useful period…”
Get more information
Journal Article -
3
Diagnosis of Male Central Hypogonadism During Childhood
Published in Journal of the Endocrine Society (01-11-2021)“…Abstract The diagnosis of male central (or hypogonadotropic) hypogonadism, typically based on low luteinizing hormone (LH) and testosterone levels, is…”
Get full text
Journal Article -
4
Male Central Precocious Puberty: Serum Profile of Anti-Mullerian Hormone and Inhibin B before, during, and after Treatment with GnRH Analogue
Published in International Journal of Endocrinology (01-01-2013)“…We aimed to describe the functional changes of Sertoli cells, based on the measurement of serum anti-Müllerian hormone (AMH) and inhibin B during treatment…”
Get full text
Journal Article -
5
Basal Follicle-Stimulating Hormone and Peak Gonadotropin Levels after Gonadotropin-Releasing Hormone Infusion Show High Diagnostic Accuracy in Boys with Suspicion of Hypogonadotropic Hypogonadism
Published in The journal of clinical endocrinology and metabolism (01-06-2010)“…Context: Differential diagnosis between hypogonadotropic hypogonadism (HH) and constitutional delay of puberty in boys is challenging. Most tests use an acute…”
Get full text
Journal Article -
6
Establishment of testicular endocrine function impairment during childhood and puberty in boys with Klinefelter syndrome
Published in Clinical endocrinology (Oxford) (01-12-2007)“…Summary Objective To precisely characterize the chronology of testicular endocrine function impairment during childhood and adolescence in patients with…”
Get full text
Journal Article -
7
Prospective and Descriptive Study on Serum Androstenedione Concentration in Healthy Children from Birth until 18 Years of Age and Its Associated Factors
Published in Disease markers (01-01-2017)“…Introduction. Androstenedione (A4) is an adrenal and gonadal steroid biomarker, useful in the assessment of children in whom steroidogenic disorders are…”
Get full text
Journal Article -
8
Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting With Dissociated Central Hypogonadism: Case Report
Published in Frontiers in pediatrics (03-06-2022)“…Pubertal delay in males is frequently due to constitutional delay of growth and puberty, but pathologic hypogonadism should be considered. After general…”
Get full text
Journal Article -
9
Spontaneous ovarian hyperstimulation syndrome caused by a follicle-stimulating hormone-secreting pituitary macroadenoma in an early pubertal girl
Published in Hormone research in paediatrics (01-01-2010)“…Gonadotroph adenomas are difficult to diagnose since they usually show as nonsecreting tumors or produce biologically inactive hormones with no clinical…”
Get more information
Journal Article -
10
Prevalence of Polycystic Ovarian Syndrome in Girls with a History of Idiopathic Central Precocious Puberty
Published in Hormone research in paediatrics (2024)“…The prevalence of polycystic ovarian syndrome (PCOS) in adolescent girls is between 1 and 4.3%. It remains controversial whether women with a history of…”
Get more information
Journal Article -
11
Safety of standardised treatments for haematologic malignancies as regards to testicular endocrine function in children and teenagers
Published in Human reproduction (Oxford) (01-12-2019)“…Abstract Study question Does standardised treatments used in children and adolescents with haematologic malignancies, including acute lymphoblastic (ALL) or…”
Get full text
Journal Article -
12
A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency
Published in European journal of endocrinology (01-11-2019)“…Background IGF1 is a key factor in fetal and postnatal growth. To date, only three homozygous IGF1 gene defects leading to complete or partial loss of IGF1…”
Get full text
Journal Article -
13
Testicular dysfunction at diagnosis in children and teenagers with haematopoietic malignancies improves after initial chemotherapy
Published in Frontiers in endocrinology (Lausanne) (16-05-2023)“…Hematopoietic malignancies are the most frequent type of cancer in childhood. Recent advances in cancer treatment have significantly improved survival until…”
Get full text
Journal Article -
14
Identification of a Novel Variant in Myelin Regulatory Growth Factor by Next-Generation Sequencing Led to the Detection of a Clinically Inapparent Congenital Heart Defect in a Patient with a 46,XY Disorder of Sex Development
Published in Journal of personalized medicine (01-07-2023)“…In patients with 46,XY disorders of sex development (DSDs), next-generation sequencing (NGS) has high diagnostic efficiency. One contribution to this…”
Get full text
Journal Article -
15
High diagnostic accuracy of subcutaneous Triptorelin test compared with GnRH test for diagnosing central precocious puberty in girls
Published in Clinical endocrinology (Oxford) (01-03-2013)“…Summary Context The GnRH test is the gold standard to confirm the diagnosis of central precocious puberty (CPP); however, this compound is not always readily…”
Get full text
Journal Article -
16
Serum concentration of 17α-hydroxyprogesterone in children from birth to adolescence
Published in Hormone research in paediatrics (01-01-2014)“…Reference intervals (RI) of serum 17α- hydroxyprogesterone (17OHP) are useful to confirm congenital adrenal hyperplasia (CAH) in neonates with abnormal…”
Get more information
Journal Article -
17
Predicting hypocalcemia after thyroidectomy in children
Published in Surgery (01-07-2014)“…Background and aims Hypocalcemia after thyroidectomy is caused by parathyroid trauma. There are no studies regarding the usefulness of intact parathyroid…”
Get full text
Journal Article -
18
Assessment of Estradiol Response after Depot Triptorelin Administration in Girls with Central Precocious Puberty
Published in Hormone research in paediatrics (01-01-2016)“…Estradiol at baseline or after a classical gonadotropin-releasing hormone test did not reflect ovarian steroidogenesis in central precocious puberty (CPP)…”
Get more information
Journal Article -
19
Spreading the clinical window for diagnosing fetal-onset hypogonadism in boys
Published in Frontiers in endocrinology (Lausanne) (01-01-2014)“…In early fetal development, the testis secretes - independent of pituitary gonadotropins - androgens and anti-Müllerian hormone (AMH) that are essential for…”
Get full text
Journal Article -
20
Development and Validation of a Prediction Rule for Growth Hormone Deficiency Without Need for Pharmacological Stimulation Tests in Children With Risk Factors
Published in Frontiers in endocrinology (Lausanne) (03-02-2021)“…Practice guidelines cannot recommend establishing a diagnosis of growth hormone deficiency (GHD) without performing growth hormone stimulation tests (GHST) in…”
Get full text
Journal Article