Browsing by Author "Grob Lunecke, Francisca"

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    Cervical pain and swelling due to an autonomous adenoma of the thyroid in an adolescent girl
    (Elsevier, 2014) Grob Lunecke, Francisca; Campusano Montaño, Claudia; Jaimovich Fernández, Rodrigo José; Martínez Aguayo, Alejandro
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    Fertility outcomes in male adults with congenital hypogonadotropic hypogonadism treated during puberty with human chorionic gonadotropin and recombinant follicle stimulating hormone
    (2024) Grob Lunecke, Francisca; Keshwani, Rachna; Angley, Eleanor; Zacharin, Margaret
    Aim: Hormone replacement therapy with testosterone for pubertal induction in boys with congenital hypogonadotropic hypogonadism (CHH) achieves virilization but not spermatogenesis. By contrast, human chorionic gonadotropin (hCG) and recombinant follicle stimulating hormone (rFSH) provides both virilization and spermatogenesis. Fertility outcomes of boys treated with recombinant therapy during adolescence have been infrequently described. We report fertility induction and pregnancy outcomes in CHH patients treated with recombinant gonadotropins during puberty. Methods: Data of six subjects with CHH (n = 3 Kallmann syndrome & n = 3 Isolated hypogonadotropic hypogonadism) treated with hCG and FSH for pubertal induction were reviewed. Of these, five underwent subsequent fertility induction while one desired fertility at the end of pubertal induction. Results: Partners of all subjects achieved pregnancies using hCG and rFSH, all with full term live births. All infants were clinically normal. Conclusion: This study provides early evidence of proof of concept of use of gonadotropin induction of puberty being beneficial in subsequent fertility outcome.
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    Incidence of Congenital Hypothyroidism Is Increasing in Chile
    (2025) Grob Lunecke, Francisca; Cavada, Gabriel; Lobo, Gabriel; Valdebenito, Susana; Pérez, María Virginia; Donoso, Gilda
    Congenital hypothyroidism (CH) is a leading preventable cause of neurocognitive impairment. Its incidence appears to be rising in several countries. We analysed 27 years of newborn-screening data (1997–2023) from the largest Chilean screening centre, covering 3,225,216 newborns (51.1% of national births), to characterise temporal trends and potential drivers of CH incidence. Annual CH incidence was modelled with Prais–Winsten regression to correct for first-order autocorrelation; additional models assessed trends in gestational age, sex, biochemical markers, and aetiological subtypes. We identified 1550 CH cases, giving a mean incidence of 4.9 per 10,000 live births and a significant yearly increase of 0.067 per 10,000 (95 % CI 0.037–0.098; p < 0.001). Mild cases (confirmation TSH < 20 mU/L) rose (+0.89 percentage points per year; p = 0.002). The program’s recall was low (0.05%). Over time, screening and diagnostic TSH values declined, total and free T4 concentrations rose, gestational age at diagnosis fell, and a shift from thyroid ectopy toward hypoplasia emerged; no regional differences were detected. The sustained increase in CH incidence, alongside falling TSH thresholds and growing detection of in situ glands, suggests enhanced recognition of milder disease. Ongoing surveillance should integrate environmental, iodine-nutrition, and genetic factors to clarify the causes of this trend.
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    Outcomes of children diagnosed antenatally with sex chromosome aneuploidies
    (John Wiley and Sons Inc, 2024) Angley, Eleanor; Grob Lunecke, Francisca; McGillivray, George; Archibald, Alison; Fawcett, Susan; Hui, Lisa; Welch, John; Zacharin, Margaret; White, Mary
    Non-invasive prenatal testing (NIPT) identifies risk of potential foetal chromosomal anomalies. Sex chromosome aneuploidies (SCA) may be identified on NIPT, with 45,X (Turner Syndrome, TS) and 47,XXY (Klinefelter Syndrome (KS)) being the most common, occurring at a rate of 1/2000 liveborn females and 1/600 liveborn males respectively.1 Wide variation in severity is seen in both KS and TS with a need for lifelong specialist follow-up to ensure appropriate screening, diagnosis and management of potential associations.1 Historically, individuals with SCA were identified due to clinical features, and it is estimated that only 25% of KS males were identified.2 Despite increasing uptake of NIPT screening in Victoria3 there are no data on pregnancy or clinical outcomes of infants identified as being at high-risk of SCA.
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    Puberty in chronic inflammatory conditions
    (2020) Grob Lunecke, Francisca; Zacharin, Margaret
    Puberty in chronic conditions may be severely delayed or arrested, with resultant poor linear growth, potential truncation of final height, and reduced peak bone mass, thus significantly increasing osteoporosis risk throughout adulthood. Systemic inflammatory cytokines, malnutrition, and use of glucocorticoids all affect the hypothalamic pituitary gonadal axis. Endocrine outcomes are influenced by ability to reduce disease activity and relapse. Introduction of new therapeutic agents with promising results, together with improvements in nutritional management and reduction of glucocorticoids, has changed the trajectory of many chronic inflammatory conditions. However, despite therapeutic improvement occurring over recent years, pubertal delay remains a frequent complication. Timely and repeated assessment and intervention is imperative, to avoid short- and long-term adverse consequences of lack of appropriate sex steroids on linear growth, pubertal maturation, psychosocial and emotional maturity.