Growth Hormone Treatment Research Articles

7673 Genetic Analysis and Clinical Characterization of Patients with Congenital Hypopituitarism Due to Gene Defects

Abstract Disclosure: T.M. Sasson: None. I.J. Arnhold: None. B.B. Mendonca: None. L.R. Carvalho: None. Introduction: Congenital hypopituitarism is characterized by the deficiency of one or more hormones secreted by the anterior pituitary gland. The genetics of this pathology is complex, and the molecular diagnosis is established in approximately 13% of cases. Objectives: The aim of the present study is to characterize the phenotype harboring pathogenic variants causing congenital hypopituitarism. Methods: Among 393 subjects with congenital hypopituitarism followed up at a tertiary health center, 57 subjects (14,5%) were selected due to a confirmed molecular diagnosis by exome in 9 subjects or by gene panel or Sanger sequencing in 48 subjects. This was a retrospective study where data from medical records, clinical, laboratory and radiological characteristics were analyzed. Results: The most frequent variants identified by sequencing analyzes were in the following genes: PROP1 (29.8%), GH1 (22.8%), GHRHR (15.7%), followed by GLI2, OTX2, HESX1, POU1F1, TGIF1, GHRS, CDH2, SATB1, SOX3 e LZTR1. Consanguinity was reported in 50% of cases, and there was the presence of familial cases of short stature in 60%. The average age at the start of follow-up was 11.1 years (11 SD), 40% of them were male and 52.3% had physical stigmata typical of GH deficiency. Regarding hormonal deficiencies, 27 (47%) had isolated Growth Hormone Deficiency (DGHI) and the others, multiple deficiencies. MRI study of the pituitary gland showed some alteration in 66%, 54% of whom had adenohypophysis hypoplasia and 31% had an ectopic or non-visualized neurohypophysis. From 29 patients with IGF-1 levels available, 28 were below the reference range for sex and age. The serum GH peak after the stimulus test was on average 1.28 ng/mL (1.4SD), of these, only 4 cases had GH peak between 3.3 and 5.0 ng/mL and 1 patient with low IGF-1 and an ectopic neurohypophysis had GH peak of 6.0 ng/mL in a glucagon test. Regarding growth, the initial height in z-score was -4.8 and the average growth at the end of the first year of treatment was 10.7cm, with the average height after this period of Z-3.35. The average of final delta target height (final height Z-score minus the target height Z-score) of patients who underwent hormonal treatment was -0,53 (good response = delta <-1.5). Conclusion: In subjects with congenital hypopituitarism and an established molecular diagnosis, the most frequently affected genes were PROP1 and GH1, the great majority presented a stimulated GH peak < 3.3 ng/mL (only one patient had GH > 5), low basal serum IGF-1 and good increase in growth speed at the end of the first year of treatment with recovery of final height at the end of GH therapy. Presentation: 6/3/2024

Alternate-day fasting delays pubertal development in normal-weight mice but prevents high-fat diet-induced obesity and precocious puberty

Background/ObjectivesChildhood obesity, particularly in girls, is linked to early puberty onset, heightening risks for adult-onset diseases. Addressing childhood obesity and precocious puberty is vital to mitigate societal burdens. Despite existing costly and invasive medical interventions, introducing lifestyle-based alternatives is essential. Our study investigates alternate-day fasting’s (ADF) impact on pubertal development in normal-weight and high-fat diet (HFD)-induced obese female mice.MethodsFour groups of female mice were utilized, with dams initially fed control chow during and before pregnancy. Post-parturition, two groups continued on control chow, while two switched to an HFD. Offspring diets mirrored maternal exposure. One control and one HFD group were subjected to ADF. Morphometry and hormone analyses at various time points were performed.ResultsOur findings demonstrate that ADF in normal-weight mice led to reduced body length, weight, uterine, and ovarian weights, accompanied by delayed puberty and lower levels of sex hormones and growth hormone (GH). Remarkably, GH treatment effectively prevented ADF-induced growth reduction but did not prevent delayed puberty. Conversely, an HFD increased body length, induced obesity and precocious puberty, and altered sex hormones and leptin levels, which were counteracted by ADF regimen. Our data indicate ADF’s potential in managing childhood obesity and precocious puberty.ConclusionsADF reduced GH and sex hormone levels, contributing to reduced growth and delayed puberty, respectively. Therefore, parents of normal-weight children should be cautious about prolonged overnight fasting. ADF prevented HFD-induced obesity and precocious puberty, offering an alternative to medical approaches; nevertheless, further studies are needed for translation into clinical practice.

Approach to the Patient: Diagnosis and Treatment with Growth Hormone of Turner Syndrome and its Variants.

Turner syndrome (TS) is characterized by a partial or complete absence of the second X chromosome in female. Here, patients with Xp deletion involving SHOX haploinsufficiency caused by unbalanced X-autosome translocations were discussed and considered as TS variants. This work aimed to expand the current knowledge of TS and unbalanced X-autosome translocations and to suggest the definition, clinical characteristics, diagnosis workflow and growth hormone (GH) treatment strategy of TS and its variants. A 9.0-year-old patient of TS variant with tall target height (+2.03SD) but low height velocity (3.6cm/y) and height (-1.33SD) was evaluated as an example. Patients similar to the index patient were systematically searched in MEDLINE and EMBASE and summarized. A diagnosis workflow and scores for risk assessment of GH treatment (RiGHT scores) for TS variants were also proposed in this study. According to the diagnosis workflow, the girl's karyotype was confirmed as 46,X,der(X)t(X;7)(p11.3; p14.1), and was evaluated as low risk using RiGHT scores. After 2-year GH treatment, she had a significantly increased height (-0.94SD). Moreover, a total of 13 patients from 10 studies were summarized, characterized as short stature, growth retardation, craniofacial abnormalities, disorders of intellectual development, and psychomotor delays. Risk assessment of GH treatment using RiGHT scores were also applied in these 13 patients. The patients with Xp deletion caused by unbalanced X-autosome translocations should be considered as TS variants. The diagnosis workflow and RiGHT scores is a useful approach for clinicians in addressing complex cases of TS variants with GH treatment in clinical practice.

Growth hormone attenuates obesity and reshapes gut microbiota in high-fat diet-fed mice

Growth hormone (GH) and gut microbiota are key regulators of metabolism and have been linked to the development and treatment of obesity. Although variations in GH levels are associated with changes in gut microbiota composition, the specific effects of GH on gut microbiota and its role in obesity remain unclear. This study explored the effects of various GH doses (0.25, 0.75 and 1.5 IU/kg) on adipose tissue mass and gut microbiota in high-fat diet-induced obese mice. Notably, high-dose GH (1.5 IU/kg) significantly reduced the adipose tissue mass. This dose also reversed high-fat diet-induced gut microbiota dysbiosis, restoring microbial diversity and increasing the abundance of beneficial genera such as Ruminococcaceae and Muribaculaceae. Additionally, high-dose GH normalized several obesity-related gut microbiota pathways, including starch and sucrose metabolism, galactose metabolism, and secondary bile acid biosynthesis. GH therapy also improved intestinal barrier function, a key determinant of gut microbial homeostasis. These findings underscore the therapeutic potential of GH in obesity management through its effects on gut microbiota, providing new avenues for obesity interventions.

The influence of genotype makeup on the effectiveness of growth hormone therapy in children with Prader-Willi syndrome

BackgroundPrader-Willi syndrome (PWS) is a rare multisystemic hereditary illness. Recombinant human growth hormone (rhGH) therapy is widely recognized as the primary treatment for PWS. This study aimed to examine how different PWS genotypes influence the outcome of rhGH treatment in children with PWS.MethodsA review was conducted on 146 Chinese children with PWS, genetically classified and monitored from 2017 to 2022. Unaltered and modified generalized estimating equations (GEE) were employed to examine the long-term patterns in primary outcomes (growth metrics) and secondary outcomes (glucose metabolism metrics and insulin-like growth factor-1 (IGF-1)) during rhGH therapy. The study also evaluated the prevalence of hypothyroidism, hip dysplasia, and scoliosis before and after rhGH treatment.ResultsChildren with PWS experienced an increase in height/length standard deviation scores (SDS) following rhGH administration. The impact of rhGH therapy on growth measurements was similar in both the deletion and maternal uniparental diploidy (mUPD) cohorts. Nevertheless, the deletion group was more prone to insulin resistance (IR) compared to the mUPD group. No significant variations in growth metrics were noted between the two groups (P > 0.05). At year 2.25, the mUPD group showed a reduction in fasting insulin (FINS) levels of 2.14 uIU/ml (95% CI, -4.26, -0.02; P = 0.048) and a decrease in homeostasis model assessment of insulin resistance (HOMA-IR) of 0.85 (95% CI, -1.52, -0.17; P = 0.014) compared to the deletion group. Furthermore, there was a decrease in the IGF standard deviation scores (SDS) by 2.84 (95% CI, -4.84, -0.84; P = 0.005) in the mUPD group during the second year. The frequency of hip dysplasia was higher in the mUPD group compared to the deletion group (P < 0.05).ConclusionsrhGH treatment effectively increased height/length SDS in children with PWS, with similar effects observed in both deletion and mUPD genotypes. Children with mUPD genetype receiving rhGH treatment may experience enhanced therapeutic effects in managing PWS.

8407 Baseline Clinical Factors Associated with Cessation of Growth Hormone Therapy in Patients with Severe Growth Hormone Deficiency: Real World Evidence

8407 Baseline Clinical Factors Associated with Cessation of Growth Hormone Therapy in Patients with Severe Growth Hormone Deficiency: Real World Evidence

Review Article: Impact of Growth Hormone Treatment on Height in Children with X-Linked Hypophosphatemic Rickets

الكساح الناقص الفوسفات المرتبط بـ X (XLHR) هو الشكل الأكثر شيوعًا للكساح الموروث. عند الأطفال، غالبًا ما يكون توقف النمو وقصر القامة بشكل غير متناسب من العلامات المبكرة لـ XLHR. قد يستمر تأخر النمو حتى بعد تلقي العلاج التقليدي المناسب (مكملات الفوسفات ونظائرها النشطة من فيتامين د)، حتى لو بدأ في وقت مبكر من مرحلة الطفولة. في الآونة الأخيرة، وبغض النظر عن المرض الذي يتم التحكم فيه جيدًا، تم اقتراح العلاج بهرمون النمو البشري المؤتلف (rhGH) كوسيلة فعالة لدعم النمو لدى الأطفال الذين يعانون من XLHR الذين يظهرون نقصًا في النمو. من الضروري المتابعة حتى الوصول إلى ارتفاع البالغين لتقييم التأثيرات طويلة المدى لعلاج هرمون النمو على الارتفاع النهائي.

Patients with Growth-Related Disorders and Caregivers Prefer the Somapacitan Device to the Somatrogon Device: Results from a Randomized Crossover Study Assessing Device Preference and Ease of Use Following Simulated Injections.

Adherence to growth hormone treatment is known to affect growth outcomes. Both device preference and ease of use have been shown to affect treatment adherence. In this study, we assessed device preference and ease of use with two long-acting growth hormones, somapacitan (Sogroya®, Novo Nordisk A/S) and somatrogon (Ngenla®, Pfizer). In a randomized, crossover study conducted between September 20 and November 2, 2023, we recruited 33 adolescents with a growth-related disorder, and 37 caregivers, at six locations in the United States. Each participant was trained in the use of both devices and asked to perform a simulated injection. Device training time, preparation and injection time, and injection completeness were recorded. Participants also completed the Device Handling and Preference Questionnaire (DHPAQ) to indicate their device preference and ease of use opinions. Following conclusion of the "standard" visit, 10 adolescents and 10 caregivers were randomly selected to participate in a sub-study to validate the relevance, comprehensiveness, and comprehension of the DHPAQ. The majority of participants (84.3%; 95% confidence interval [CI]: 74;92) preferred the somapacitan device to the somatrogon device (p<0.0001). Almost all (98.6%; 95% CI: 92;100) participants answered that the somapacitan device was easy or very easy to use, while three-quarters (74.3%; 95% CI: 62;84) answered the same for the somatrogon device. Average training and injection times were lower for the somapacitan device than for the somatrogon device. Also, more patients successfully completed the injection with the somapacitan device than with the somatrogon device (97.1% vs 92.9%). Cognitive debriefing interviews indicated the DHPAQ was relevant, comprehensive, and fully comprehended. The somapacitan device was preferred to the somatrogon device by a majority of participants. More participants considered the somapacitan device to be easy or very easy to use than the somatrogon device.

Policy for transitioning childhood-onset growth hormone deficiency from pediatric to adult endocrine care in Belgium.

Growth hormone (GH) deficiency (GHD) in children and adolescents can vary in severity and origin, with GH replacement therapy proving effective in achieving genetic target height. Optimal outcomes are seen in those treated early and with higher doses. As patients approach adult height, priorities shift towards optimizing metabolic effects, maintaining body composition, and enhancing bone mass and muscle strength. Transitioning from pediatric to adult care presents challenges, including accurately identifying candidates for continued GH therapy, reevaluating persistent GHD, and preventing treatment discontinuation. Assessing readiness for transition and self-management skills is crucial. This Policy and Practice Review provides a comprehensive overview of current policies, regulations, and guidelines pertinent to managing GHD transition in Belgium. We integrate perspectives from national academic and nonacademic clinical stakeholders in pediatric and adult endocrine care to provide an updated policy framework. This framework underscores the importance of sustained GH therapy during transition, particularly for individuals with persistent GHD, with the goal of optimizing practices and improving outcomes during this critical period.

Nutritional Status and Growth Outcomes in Pediatric Idiopathic Growth Hormone Deficiency: A Retrospective Study in Turkey

Objective: Growth and development in children are significantly influenced by nutritional status. Nutritional deficiencies such as low hemoglobin (Hb), ferritin, vitamin B12, and vitamin D have been linked to impaired growth. This study aims to evaluate the impact of these nutritional markers on growth outcomes in children with idiopathic growth hormone deficiency (IGHD) undergoing recombinant growth hormone therapy (rhGH). Material and Methods: A cross-sectional, retrospective study was conducted on 100 children with IGHD, aged under 16, diagnosed between 2000 and 2023. Data were collected from medical records, including height, body mass index (BMI), pubertal status, bone age, and nutritional markers [Hb, ferritin, vitamin B12, 25-hydroxy-vitamin D3 (25(OH)D3]. Growth parameters were assessed at the start and end of the first year of rhGH treatment. Results: The cohort had a median age of 11.3 years; 30% were female, and 50% were prepubertal. The median height standard deviation score (SDS) was -2.8, and median BMI SDS was -0.7. Prevalence of nutritional deficiencies included 23% with low Hb, 31% with low ferritin, 44% with low 25(OH)D3, and 15% with low vitamin B12. Despite these deficiencies, no significant differences were observed in height SDS or growth velocity when grouped by nutritional markers or supplementation status. Growth velocity showed a significant positive correlation with Hb levels and mid-parental height (MPH). Conclusion: Nutritional deficiencies were common among IGHD patients; there was no significant difference in terms of growth-related metrics in the first year of the rhGH therapy in comparisons between the groups with and without common nutritional deficiencies. This finding underscores the resilience of growth in the presence of these deficiencies. In contrast, growth velocity correlated positively with Hb levels and MPH, suggesting that these factors may play a significant role in influencing growth. Further research with larger samples and extended follow-up is needed to explore the long-term impact of nutritional supplementation on growth in IGHD.

A Rare Coexistence of Turner Syndrome and Mycosis Fungoides: A Case Report.

Turner syndrome (TS) is the most common sex chromosome abnormality among females, characterised by short stature, hypergonadotropic hypogonadism, congenital heart anomalies, and an increased risk of autoimmune diseases. Although TS does not typically increase the absolute risk of malignancy, specific cancers, such as those affecting the nervous system and gastrointestinal tract and malignant melanoma, may occur more frequently. Mycosis fungoides (MF) is the most common type of primary cutaneous T-cell lymphoma, typically affecting adults but also seen in children and adolescents. We report an 11.2-year-old girl with TS presenting with substantial weight gain and short stature. Clinical examination revealed characteristic TS features and karyotype analysis confirmed mosaic TS. Following growth hormone (GH) therapy, the patient developed persistent, erythematous, itchy skin lesions diagnosed as CD4+ MF. GH therapy was discontinued, and topical steroids controlled the skin lesions effectively. MF in TS is rare and unexpected, especially in a child. The coexistence of these conditions suggests a potential link between TS and an increased risk of MF, possibly due to T-cell dysregulation or autoimmune processes. While the clinical course of MF is typically indolent, careful monitoring and annual dermatologic evaluations are recommended for TS patients, particularly when skin lesions are present. This is the first reported case of MF in a child with TS. This case emphasises the importance of carefully evaluating skin lesions in patients with TS and suggests considering MF as a differential diagnosis.

The Effects of Growth Hormone Treatment Beyond Growth Promotion in Patients with Genetic Syndromes: A Systematic Review of the Literature.

Recombinant human growth hormone therapy (rhGH) has been widely accepted as the safe treatment for short stature in children with such genetic syndromes as Prader-Willi syndrome and Turner or Noonan syndrome. Some patients with short stature and rare genetic syndromes are treated with rhGH as growth hormone-deficient individuals or as children born small for their gestational age. After years of experience with this therapy in syndromic short stature, it has been proved that there are some aspects of long-term rhGH treatment beyond growth promotion, which can justify rhGH use in these individuals. This paper summarizes the data of a literature review of the effects of rhGH treatment beyond growth promotion in selected genetic syndromes. We chose three of the most common syndromes, Prader-Willi, Turner, and Noonan, in which rhGH treatment is indicated, and three rarer syndromes, Silver-Russel, Kabuki, and Duchenne muscular dystrophy, in which rhGH treatment is not widely indicated. Many studies have shown a significant impact of rhGH therapy on body composition, resting energy expenditure, insulin sensitivity, muscle tonus, motor function, and mental and behavioral development. Growth promotion is undoubtedly the primary benefit of rhGH therapy; nevertheless, especially with genetic syndromes, the additional effects should also be considered as important indications for this treatment.

Unveiling the psychiatric dimensions of hypopituitarism: investigating associations, challenges, and treatment strategies.

Dear Editor, Hypopituitarism is a disorder characterized by insufficient hormone production from the pituitary gland,1,2 manifesting as either pan or partial dysfunction.2 Hypopituitarism is considered a rare disorder by National Institute of Health and there is limited information on its occurrence. A study in Spain demonstrated prevalence of 45.5 cases per 100,000 people.2 Hypopituitarism can be caused by pituitary tumours, head injury, infections, radiation therapy, autoimmune conditions, and genetic abnormalities.2 Hypopituitarism occurs when about 75% of the pituitary gland is affected, causing a spectrum of clinical features from mild to severe.2 Sheehan syndrome, resulting from anterior pituitary ischaemia typically after postpartum haemorrhage, occurs in approximately 5/10,000 births in developing countries.3 Hypopituitarism diagnosis may take a decade or longer due to its diverse clinical presentations.3 As of now, the link between psychotic disorders and hypopituitarism is not completely understood.1 While a few case reports have documented a link between pituitary insufficiency and mental health issues, larger-scale studies are limited in number. Hypopituitarism raises depression and anxiety risk, especially in females and those over 18, with females having tenfold higher risk of depression than males.1 Growth hormone deficiency (GHD) is linked to cognitive impairments, and atypical depression.4 In their 1949 report, Sheehan and Summer noted that one-third of total 143 hypopituitarism patients displayed loss of drive and initiative, and disinterest in social connections.5 Acute psychosis as an initial presentation of hypopituitarism has been reported in cases involving Sheehan's syndrome, traumatic brain injury, and glucocorticoid therapy.5 A 37-year-old pregnant woman diagnosed with Sheehan syndrome exhibited neuropsychiatric symptoms, prompting early diagnosis.3 The 2010 study found that growth hormone therapy improved cognitive function and reduced depression severity in traumatic brain injury patients with GHD. However, discontinuation of therapy led to worsened cognitive function and increased psychiatric symptoms, highlighting the potential benefits of growth hormone therapy and the need for more experimental studies to confirm its effects on neurophysiological and psychiatric wellbeing.4 Adults with Childhood Onset Multiple Pituitary Hormone Deficiency have a notably lower quality of life, underscoring the importance of addressing psychosocial and psychosexual challenges in this population.6 A 60-year-old man with macroprolactinoma and hypopituitarism developed acute psychosis due to non-adherence to cabergoline, treatment with hydrocortisone, and thyroxine lead to full recovery within 48 hours.5 A 41-year-old man with osmophobia improved with sertraline transiently. Later, he was diagnosed with partial hypopituitarism with adrenocorticotropic hormone deficiency. Prednisolone supplementation significantly improved his condition.7 ---Continue

Effect of recombinant growth hormone therapy in chromosome 15q26.3 deletion encompassing the IGF1R

Effect of recombinant growth hormone therapy in chromosome 15q26.3 deletion encompassing the IGF1R

No Association Between Growth Hormone Therapy and Upper Extremity Physeal Tension Injuries: A Matched Case-control Study.

Recent evidence has identified a strong association between growth hormone therapy and physeal injuries in the lower extremity; however, few studies have investigated this association in the upper extremity. (1) Do pediatric patients with physeal tension injuries of the shoulder and elbow have higher odds of having exposure to recombinant growth hormone therapy than matched controls? (2) Are the odds of having exposure to recombinant growth hormone therapy in physeal tension injuries different when stratified by shoulder and elbow injuries? Using a matched case-control study design, patients between 4 and 18 years of age treated at a large, urban, academic center from February 1, 2016, to November 6, 2023, were identified by ICD-10 codes using EPIC SlicerDicer, an electronic medical record-based data mining tool. Patients diagnosed with physeal tension injuries in the shoulder or elbow were included in the case group, and those with midshaft radius, metaphyseal radius, or both-bone forearm fractures were included in the control group. A total of 618 patients with physeal injuries and 1244 with non-physeal fractures were identified and screened for inclusion. After further chart review to confirm diagnoses, 46% (283) of patients with physeal injuries and 54% (670) of patients with non-physeal fractures were included. A further 6% (16) of patients with physeal injuries and 2% (15) of patients with non-physeal injuries were excluded due concomitant dislocations or missing data, resulting in 267 eligible patients with physeal injuries and 655 eligible patients with non-physeal fractures. Two patients with concurrent elbow and shoulder physeal injuries were additionally excluded from stratified analyses. Patients with physeal injuries and non-physeal fractures were 1:1 matched by age ± 0.5 years, sex, and BMI ± 2 kg/m2. In all, 522 patients were included in the analysis, including 261 patients with physeal injuries and 261 with non-physeal fractures. The mean ± SD ages for both patient groups was 13 ± 2 years (p = 0.44), 88% (229 of 261) of all participants were male, and the mean BMIs were 19.9 ± 3.0 kg/m2 and 19.4 ± 3.0 kg/m2 (p = 0.11), respectively. Growth hormone exposure was compared between patients with physeal injuries and non-physeal fractures using a conditional logistic regression model. Overall, 4% (10 of 261) of patients with physeal injuries had exposure to growth hormone therapy as compared with 2% (4 of 261) of patients with non-physeal fractures (OR 2.5 [95% confidence interval 0.8 to 8.0]). Subgroup analyses of shoulder and elbow injuries demonstrated no difference in growth hormone exposure between patients with physeal injuries and non-physeal fractures (OR 2 [95% CI 0.4 to 10.2] and OR 3 [95% CI 0.6 to 14.9], respectively). In light of these results, clinicians may not need to advise precaution against sports or other activities that put the upper extremity physes under stress when treating patients with growth hormone supplementation therapy. Future multicenter studies, however, are indicated to further investigate for the existence of any subtle association between growth hormone therapy and upper extremity physeal injuries relative to the large association previously noted in the lower extremity in pediatric and adolescent patients. Level III, therapeutic study.

Exogenous Growth Hormone Exacerbates Post-Irradiation Atherosclerosis in Susceptible Epicardial Coronary Arteries.

Cardiac exposure to ionizing radiation can damage both the microvasculature and coronary arteries, as well as increase the long-term risk of heart disease, myocardial fibrosis, and conduction abnormalities. Therapeutic agents capable of promoting recovery from radiation injury to the heart are limited. Growth hormone is linked to improved cardiac function following injury. Here, we leveraged a cynomolgus macaque model to determine the long-term outcomes of recombinant human growth hormone (rhGH) therapy on the heart following low-dose ionizing radiation. Macaques were exposed to 2 Gy radiation, treated with rhGH for one month, and assessed after 2 years. Overall, plasma lipid profile, cardiac function, and coronary artery disease were similar between rhGH and placebo treated animals. However, a subgroup of rhGH-treated animals exhibited more extensive atherosclerotic plaques in the coronary arteries. Together, these findings indicate that transient human growth hormone therapy subsequent to a single low dose of ionizing radiation involving the heart does not result in long-term changes to plasma cholesterol but may promote exacerbated coronary artery disease in a subset of individuals.

Single-Center Experience in Patients with Mixed Gonadal Dysgenesis.

Mixed gonadal dysgenesis (MGD) is an uncommon chromosomal Disorder of Sexual Development (DSD). There is insufficient information regarding clinical findings and growth patterns. This study aimed to provide more information about mixed gonadal dysgenesis, which has not yet been sufficiently defined. Data from 10 patients diagnosed with mixed gonadal dysgenesis were retrospectively reviewed. Clinical presentations, complaints at admission, imaging, genetic results, and treatments received by the patients were examined. Gonadal status and the gender of the patients were reared and evaluated by a multidisciplinary council decision. If received, growth hormone treatment doses and height gains were examined. The patients' ages at admission range from 6 months to 17.5 years. The median height SDS of the patients was -0.75 (2.73), the mean body weight SDS was -0.49 (±1.46), and the mean body mass index (BMI) SDS was 0.26 (±0.97). The complaints at admission varied, including ambiguous genitalia, short stature, and absence of menstruation. Some patients are completely in the female phenotype, while some are inadequately virilized male phenotype. External Masculinization Score (EMS) ranges from 1 to 6.5. The decision to raise 6 patients as female and 4 patients as male was made by a multidisciplinary council. Growth hormone treatment was administered to patients raised as female and diagnosed with short stature. The height SDS gain in treated patients was 0.42 (±0.49). Due to its rarity and varied clinical presentation, our knowledge about mixed gonadal dysgenesis is limited. Therefore, early diagnosis and individualized treatment plans are crucial for this patient group.

Efficacy and safety of growth hormone therapy in children with systemic lupus erythematosus: A systematic review

Introduction Childhood-onset systemic lupus erythematosus (cSLE) is a chronic autoimmune disease with long-term consequences, including growth failure and short stature. Growth hormone (GH) therapy is a potential treatment for short stature in cSLE. Objective The aim of the study was to evaluate the current evidence on the efficacy and safety of GH therapy in cSLE. Methods A systematic review was conducted through PubMed, Cochrane, and Web of Science databases to identify relevant publications from January 1988 to October 2023. This review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses checklist. Articles focusing on GH therapy in cSLE were included after an initial screening of their titles and abstracts. The articles were extracted and analyzed by two independent reviewers, with a third reviewer addressing any discrepancies that arose to reach an agreement. Results Among the 6364 screened citations, only two case reports fulfilled the inclusion criteria. Both were for males with cSLE who had short stature due to the disease and corticosteroids. Both case reports demonstrated improved linear growth; however, GH therapy was discounted because of a lupus flare concurrent with GH use, with one case necessitating treatment escalation to control disease activity. Conclusion GH therapy has shown favorable effects on growth in cSLE; however, it may increase the risk of disease flare. Limited evidence precludes a definitive conclusion, highlighting the need for further studies to fill the knowledge gap on the safety and efficacy of GH therapy in cSLE patients.

Effects of combined human growth hormone and leuprolide treatment on growth and bone metabolism in girls with adolescent idiopathic short stature.

Effects of combined human growth hormone and leuprolide treatment on growth and bone metabolism in girls with adolescent idiopathic short stature.

P.352: Recombinant growth hormone treatment in two patients with progressive familial intrahepatic cholestasis.

P.352: Recombinant growth hormone treatment in two patients with progressive familial intrahepatic cholestasis.