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1.
J Assoc Physicians India ; 72(4): 31-37, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38881081

ABSTRACT

OBJECTIVE: Assessment of Androgen Deficiency in Aging Males (ADAM) questionnaire in predicting serum testosterone levels in type 2 diabetes mellitus (T2DM). MATERIALS AND METHODS: A single centre, prospective, cross-sectional epidemiological study in 250 male individuals with T2DM. ADAM questionnaire and serum total testosterone (TT) levels were analyzed for correlation using a Chi-squared test. Jaccard analysis to evaluate the concordance and dissimilarity between ADAM score and TT levels, providing insights into ADAM's predictive ability for testosterone levels. RESULTS: The mean age of the study population was 49.1 ± 7.8 years. The mean duration of diabetes was 6.2 ± 5.1 years. 27.6% were diagnosed with hypogonadism, while 72.4% were eugonadal. The mean age was 51.1 and 48.4 years in the hypogonadal and eugonadal cohorts, respectively (p < 0.02). The mean TT in the hypogonadal cohort was 220.6 ± 61.3 ng/dL, and in the eugonadal cohort was 475.4 ± 152.9 ng/dL (p < 0.001). The mean body mass index (BMI) in the hypogonadal cohort was 26.5 ± 4.0 kg/m2, and in the eugonadal group was 25.2 ± 3.6 kg/m2 (p < 0.02). Chi-square analysis established a strong positive correlation between the positive ADAM score and hypogonadism (p < 0.011). Of the 69 hypogonadal subjects, 84.05% had a positive ADAM score, yielding a sensitivity of 84.05% in detecting hypogonadism with a specificity of 32.04%. CONCLUSION: The ADAM questionnaire is a practical and cost-effective initial screening tool for identifying symptoms suggestive of testosterone deficiency. It has high sensitivity in identifying men with hypogonadism, while caution must be in place as it has a very low specificity. In resource-poor settings, ADAM score could be a clinical marker of hypogonadism.


Subject(s)
Diabetes Mellitus, Type 2 , Hypogonadism , Testosterone , Humans , Male , Diabetes Mellitus, Type 2/blood , Diabetes Mellitus, Type 2/diagnosis , Testosterone/blood , Testosterone/deficiency , Cross-Sectional Studies , Middle Aged , Prospective Studies , Hypogonadism/blood , Hypogonadism/diagnosis , Hypogonadism/epidemiology , Surveys and Questionnaires , Adult , Androgens/blood , Androgens/deficiency
2.
BMJ Case Rep ; 17(6)2024 Jun 19.
Article in English | MEDLINE | ID: mdl-38901851

ABSTRACT

This case report describes a man in his 20s presenting with bilateral crypto-orchidism, micropenis and underdeveloped secondary sexual characteristics. The patient also exhibited hyposmia, eunuchoid stature and gynecomastia. Biochemical investigations revealed low levels of testosterone, luteinising hormone and follicle-stimulating hormone. Hence, he was diagnosed with Kallmann syndrome. Imaging studies showed an absent right kidney and cystic dilatation of the distal ureteric bud, seminal vesicle and absent/hypoplastic ejaculatory duct. The association of hypogonadotropic hypogonadism with Zinner syndrome, a rare condition characterised by renal agenesis, seminal vesicle cyst and ejaculatory duct obstruction, was noted.


Subject(s)
Hypogonadism , Kallmann Syndrome , Humans , Male , Hypogonadism/complications , Hypogonadism/diagnosis , Kallmann Syndrome/complications , Kallmann Syndrome/diagnosis , Seminal Vesicles/abnormalities , Seminal Vesicles/diagnostic imaging , Kidney/abnormalities , Ejaculatory Ducts/abnormalities , Ejaculatory Ducts/diagnostic imaging , Adult , Penis/abnormalities
3.
Ter Arkh ; 96(5): 486-493, 2024 Jun 03.
Article in Russian | MEDLINE | ID: mdl-38829810

ABSTRACT

AIM: To study the frequency of hypogonadism (HG) in men with rheumatoid arthritis (RA), ankylosing spondylitis (AS) and psoriatic arthritis (PsA) and to evaluate the impact of HG on the course of RA and and concomitant diseases. MATERIALS AND METHODS: A single-stage continuous study included 170 men with RA, 57 men with AS and 85 men with PsA, who were hospitalized at the Nasonova Research Institute of Rheumatology. Patients were assessed for total testosterone (ТS) levels and subsequently divided into subgroups with normal (>12 nmol/l) and reduced levels. An intergroup comparison was carried out on the main indicators used in clinical rheumatological practice to assess the stage, activity and other medical and demographic characteristics of rheumatic disease, as well as on concomitant conditions. The second stage of the study involved a pairwise intergroup comparison among patients with HG with RA, AS and PsA. RESULTS: The incidence of ТS deficiency among patients with RA was 24.1%, among patients with AS - 17.5%, and with PsA - 31.8%. In patients with RA, HG was associated with a significantly higher mean body mass index, higher fasting blood glucose and uric acid, higher erythrocyte sedimentation rate and anemia. Patients with AS with HG had significantly lower hemoglobin levels and more frequent anemia, as well as higher levels of C-reactive protein and erythrocyte sedimentation rate. In PsA, older age was observed in the androgen deficiency group, as well as higher body mass index and fasting glucose levels; obesity was more common. An intergroup comparison of quantitative and qualitative indicators between patients with androgen deficiency in all three rheumatic diseases (RDs) did not reveal significant differences in the average concentrations of ТS, luteinizing hormone, sex hormone binding globulin, experience of RD, laboratory markers of inflammatory activity, as well as glucose and uric acid. A similar incidence of diabetes mellitus, obesity and anemia was noted for all three nosologies. CONCLUSION: ТS levels and the presence of HG were not associated with the stage and activity of RD, but ТS deficiency was accompanied by higher laboratory indicators of inflammatory activity, lower hemoglobin values, and metabolic disorders. Patients with HG, regardless of nosology, had similar levels of sex hormones and indicators reflecting RD and concomitant conditions.


Subject(s)
Arthritis, Psoriatic , Arthritis, Rheumatoid , Hypogonadism , Testosterone , Humans , Male , Hypogonadism/epidemiology , Hypogonadism/blood , Hypogonadism/diagnosis , Middle Aged , Testosterone/blood , Arthritis, Psoriatic/epidemiology , Arthritis, Psoriatic/complications , Arthritis, Psoriatic/diagnosis , Arthritis, Psoriatic/blood , Adult , Arthritis, Rheumatoid/epidemiology , Arthritis, Rheumatoid/complications , Arthritis, Rheumatoid/blood , Arthritis, Rheumatoid/diagnosis , Spondylitis, Ankylosing/epidemiology , Spondylitis, Ankylosing/complications , Spondylitis, Ankylosing/diagnosis , Spondylitis, Ankylosing/blood , Spondylitis, Ankylosing/physiopathology , Russia/epidemiology , Incidence , Blood Sedimentation
4.
Ann Med ; 56(1): 2356667, 2024 Dec.
Article in English | MEDLINE | ID: mdl-38776237

ABSTRACT

BACKGROUND: The lack of association between serum testosterone levels and symptoms suggestive of hypogonadism is a significant barrier in the determination of late-onset hypogonadism (LOH) in men. This study explored whether testosterone levels increase after morning awakening, likewise the cortisol awakening response (CAR) in the hypothalamic-pituitary-adrenal (HPA) axis, and whether testosterone levels during the post-awakening period are associated with age and symptoms suggestive of late-onset hypogonadism (LOH) in men. METHODS: Testosterone and cortisol levels were determined in saliva samples collected immediately upon awakening and 30 and 60 min after awakening, and scores of the Aging Males' Symptoms (AMS) questionnaire were obtained from 225 healthy adult men. RESULTS: A typical CAR (an increase in cortisol level ≥ 2.5 nmol/L above individual baseline) was observed in 155 participants (the subgroup exhibiting typical CAR). In the subgroup exhibiting CAR, testosterone levels sharply increased during the post-awakening period, showing a significant negative correlation with age, total AMS score, and the scores of 11 items on the somatic, psychological, and sexual AMS subscales. Of these items, three sexual items (AMS items #15-17) were correlated with age. Meanwhile, there was no notable increase in testosterone levels and no significant correlation of testosterone levels with age and AMS score in the subgroup exhibiting no typical CAR (n = 70). CONCLUSIONS: The results indicate that the hypothalamus-pituitary-gonad (HPG) axis responds to morning awakening, and determining testosterone levels during the post-awakening period in men with typical CAR may be useful for assessing HPG axis function and LOH.


The present study found that the HPG axis in healthy adult men responds to the morning awakening, characterized by increased salivary testosterone levels after the awakening period.The levels of salivary testosterone during the first hour after awakening are negatively associated with age and the severity of symptoms suggestive of LOH in adult men with typical CAR.


Subject(s)
Hydrocortisone , Hypogonadism , Hypothalamo-Hypophyseal System , Saliva , Testosterone , Humans , Male , Testosterone/analysis , Testosterone/blood , Testosterone/metabolism , Saliva/chemistry , Saliva/metabolism , Hypogonadism/metabolism , Hypogonadism/blood , Hypogonadism/diagnosis , Middle Aged , Adult , Hydrocortisone/metabolism , Hydrocortisone/blood , Hydrocortisone/analysis , Hypothalamo-Hypophyseal System/metabolism , Hypothalamo-Hypophyseal System/physiopathology , Aged , Pituitary-Adrenal System/metabolism , Pituitary-Adrenal System/physiopathology , Aging/metabolism , Aging/physiology , Surveys and Questionnaires , Age Factors , Young Adult , Wakefulness/physiology
5.
BMC Endocr Disord ; 24(1): 50, 2024 Apr 23.
Article in English | MEDLINE | ID: mdl-38654196

ABSTRACT

BACKGROUND: Human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS) is an endemic chronic disease which is characterized with progressive depletion of CD4 T cells and increased susceptibility to opportunistic infections. Previous studies have associated HIV infection with increased hypogonadism. However, the prevalence of hypogonadism remained poorly defined and widely ranging in various studies. This study aims to evaluate the serum gonadal hormonal levels and hypogonadism in antiretroviral therapy (ART) naïve newly diagnosed HIV infected-males in Mwanza, Tanzania. METHODS: This was a comparison study involving 81 ART naïve newly diagnosed HIV-infected adult males as study group and 81 apparently healthy HIV-negative males as comparison group. The participants in the study group and comparison group were matched by body mass index and age. Serum hormones [Total testosterone (TT), follicle stimulating hormone (FSH), luteinizing hormone (LH) and estradiol (E) were estimated. Serum testosterone < 300 ng/dl, or testosterone > 300 ng/dl with high LH and FSH (compensatory hypogonadism) were taken as markers of hypogonadism. Data were analyzed using STATA version 15. RESULTS: The median serum testosterone level among ART naïve newly diagnosed HIV-infected adult males was significantly lower as compared to their comparison group (447 [259-534] versus 517 [396-605]; p = 0.0074) and shown to decrease with decreasing CD4 level. The median [IQR] serum FSH level among ART naïve newly diagnosed HIV-infected adult males was significantly higher than among their comparison group (3.8 [2.1-6.5] versus 2.6 [1.8-4.2]; p = 0.0086). The differences in serum LH and Estradiol were not statistically significant. Furthermore, the proportion of hypogonadism was significantly higher among ART naïve newly diagnosed HIV-infected adult males than in their comparison group (37.0% [30/81] versus 14.8% [12/81]; p = 0.0006). Out of these 30, 24 HIV-infected males had secondary hypogonadism, one had primary, and the remaining five had compensatory hypogonadism. CONCLUSION: Serum testosterone was lower and follicle stimulating hormone was higher among ART naïve HIV-infected males as compared to the HIV negative controls. Hypogonadism, mainly secondary, is common endocrine abnormality among ART naïve HIV-infected male patients in this study. HIV is associated with variations in gonadal hormones which may lead to sexual dysfunction in infected individuals.


Subject(s)
HIV Infections , Hypogonadism , Testosterone , Humans , Male , Adult , HIV Infections/blood , HIV Infections/complications , HIV Infections/epidemiology , Hypogonadism/blood , Hypogonadism/epidemiology , Hypogonadism/etiology , Hypogonadism/diagnosis , Tanzania/epidemiology , Testosterone/blood , Luteinizing Hormone/blood , Follicle Stimulating Hormone/blood , Middle Aged , Young Adult , Gonadal Hormones/blood , Case-Control Studies , Estradiol/blood , Biomarkers/blood , Follow-Up Studies
6.
Acta Med Indones ; 56(1): 1-2, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38561883

ABSTRACT

Hypogonadism is a condition characterized by diminished or absent production of sex hormones by the testicles in men and the ovaries in women. Hypogonadism is classified into primary and secondary hypogonadism. Each type of hypogonadism can be caused by congenital and acquired factors. There are many factors that contribute to the occurrence of hypogonadism, including genetic and developmental disorders, infection, kidney disease, liver disease, autoimmune disorders, chemotherapy, radiation, surgery, and trauma. This represents the considerable challenge in diagnosing hypogonadism.The goals of treatment include restore sexual functionality and well-being, initiating and sustaining virilization, osteoporosis prevention, normalize growth hormone levels in elderly men if possible, and restoring fertility in instances of hypogonadotropic hypogonadism. The main approach to treating hypogonadism is hormone replacement therapy. Male with prostate cancer, breast cancer, and untreated prolactinoma are contraindicated for hormone replacement therapy. When selecting a type of testosterone therapy for male with hypogonadism, several factors need to be considered, such as the diversity of treatment response and the  type of testosterone formulation. The duration of therapy depends on individual response, therapeutic goals, signs and symptoms, and hormonal levels. The response to testosterone therapy is evaluated based on symptoms and signs as well as improvements in hormone profiles in the blood. Endocrine Society Clinical Practice Guideline recommend therapeutic goals based on the alleviation of symptoms and signs, as well as reaching testosterone levels between 400 - 700 ng/dL (one week after administering testosterone enanthate or cypionate) and maintaining baseline hematocrit.Hormone therapy is the primary modality in the management of hypogonadism. The variety of signs and symptoms makes early diagnosis of this condition challenging. Moreover, administering hypogonadism therapy involves numerous considerations influenced by various patient factors and the potential for adverse effects. This poses a challenge for physicians to provide targeted hypogonadism therapy with minimal complications.


Subject(s)
Hypogonadism , Humans , Male , Female , Aged , Hypogonadism/diagnosis , Hypogonadism/drug therapy , Testosterone/therapeutic use , Testis , Hormone Replacement Therapy/adverse effects
7.
Endocrinol Metab Clin North Am ; 53(2): 293-305, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38677871

ABSTRACT

This review focuses on primary amenorrhea and primary/premature ovarian insufficiency due to hypergonadotropic hypogonadism. Following a thoughtful, thorough evaluation, a diagnosis can usually be discerned. Pubertal induction and ongoing estrogen replacement therapy are often necessary. Shared decision-making involving the patient, family, and health-care team can empower the young person and family to successfully thrive with these chronic conditions.


Subject(s)
Amenorrhea , Hypogonadism , Primary Ovarian Insufficiency , Humans , Primary Ovarian Insufficiency/therapy , Primary Ovarian Insufficiency/etiology , Female , Amenorrhea/etiology , Amenorrhea/therapy , Hypogonadism/therapy , Hypogonadism/diagnosis , Hypogonadism/etiology , Estrogen Replacement Therapy
8.
Int J Pharm Compd ; 28(1): 6-14, 2024.
Article in English | MEDLINE | ID: mdl-38306625

ABSTRACT

Male hypogonadism is a common condition widely associated with the aging process. Understanding of this condition is continuing to grow as new information is available. Pharmacists are in a very unique position to work with patients and physicians in achieving better diagnosis and treatment plans for the hundreds of thousands of men in the U.S. who are hypogonadal. This article discusses various methods that can be employed to restore testosterone in men and the varying expectations associated with each treatment method.


Subject(s)
Hypogonadism , Humans , Male , Hypogonadism/diagnosis , Hypogonadism/drug therapy , Testosterone
9.
Front Endocrinol (Lausanne) ; 15: 1335146, 2024.
Article in English | MEDLINE | ID: mdl-38344665

ABSTRACT

Introduction: Testosterone replacement therapy (TRT) is a generally accepted method treating for aging-related late-onset hypogonadism (LOH). However, the efficacy and safety of TRT remain controversial. An updated systematic review and meta-analysis aimed to determine the effectiveness and security of TRT treating for LOH. Methods: Randomized controlled trials (RCTs) of TRT for LOH were searched in the databases of Pubmed, Embase, Clinicaltrials.gov and Cochrane from 1990 to 2023 and an updated meta-analysis was conducted. Results: The results of 28 RCTs involving 3461 patients were included and scrutinized in this analysis. Among these, 11 RCTs were of long-term duration (≥12 months), while 18 RCTs were short-term studies (<12 months) comparing TRT with a placebo. TRT modalities comprised injection, oral administration, and transdermal administration. International Index of Erectile Function (IIEF) (Weighted Mean difference (WMD) 3.26; 95%; 95% confidence interval (CI) 1.65-4.88; P<0.0001) was obviously improved in the TRT group. International Prostate Symptom Score (IPSS) (WMD 0.00; 95% CI -0.45-0.45; P=1.0), Prostate Volume (PV) (WMD 0.38; 95% CI -0.64-1.41; P=0.46), Maximum Flow Rate (Qmax) (WMD 1.86; 95% CI -0.98-4.69; P=0.20), Postvoid Residual Urine Volume (PVR) (WMD 3.20; 95% CI -5.87-12.28; P=0.49) and Prostate-Specific Antigen (PSA) (WMD 0.08; 95% CI -0.00-0.17; P=0.06) were not significantly statistical between two groups. Conclusion: This meta-analysis reveals that TRT could improve the IIEF score of hypogonadal men without detriment to the IPSS score, PV, Qmax, PVR and PSA regardless of the administration method or duration of treatment.The meta-analysis was registered at PROSPERO (CRD42023413434).


Subject(s)
Erectile Dysfunction , Hypogonadism , Humans , Male , Erectile Dysfunction/drug therapy , Hypogonadism/drug therapy , Hypogonadism/diagnosis , Prostate , Prostate-Specific Antigen , Testosterone/therapeutic use , Aging
10.
Expert Opin Pharmacother ; 25(1): 25-35, 2024.
Article in English | MEDLINE | ID: mdl-38229462

ABSTRACT

INTRODUCTION: As an increasingly popular therapeutic option, testosterone replacement therapy (TRT) has gained significant notoriety for its health benefits in indicated populations, such as those suffering from hypogonadism. AREAS COVERED: Benefits such as improved libido, muscle mass, cognition, and quality of life have led to widened public interest in testosterone as a health supplement. No therapy exists without side effects; testosterone replacement therapy has been associated with side effects such as an increased risk of polycythemia, benign prostate hypertrophy (BPH), prostate cancer, gynecomastia, testicular atrophy, and infertility. Testosterone replacement therapy is often accompanied by several prophylactic co-therapies aimed at reducing the prevalence of these side effects. Literature searches for sections on the clinical benefits and risks associated with TRT were performed to include clinical trials, meta-analyses, and systematic reviews from the last 10 years. EXPERT OPINION: Data from clinical studies over the last decade suggest that the benefits of this therapy outweigh the risks and result in overall increased quality of life and remission of symptoms related to hypogonadism. With this in mind, the authors of this review suggest that carefully designed clinical trials are warranted for the investigation of TRT in symptomatic age-related hypogonadism.


Subject(s)
Hypogonadism , Prostatic Neoplasms , Male , Humans , Quality of Life , Testosterone/adverse effects , Hypogonadism/drug therapy , Hypogonadism/chemically induced , Hypogonadism/diagnosis , Prostatic Neoplasms/drug therapy , Libido
12.
Reprod Sci ; 31(1): 222-238, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37679557

ABSTRACT

As a rare disease leading to male infertility, idiopathic hypogonadotropic hypogonadism (IHH) has strong heterogeneity of clinical phenotype and gene mutation. At present, there is no effective diagnosis and treatment method for this disease. This study is to explore the possible new pathogenic gene of idiopathic hypogonadotrophic hypogonadism and the pathological mechanism affecting its occurrence. We performed a whole-exome sequencing on 9 patients with normosmic idiopathic hypogonadotropic hypogonadism (nIHH), 19 varicocele patients with asthenospermia, oligospermia, or azoospermia, 5 patients with simple nonobstructive azoospermia, and 13 normal healthy adult males and carried out comparative analysis, channel analysis, etc. After preliminary sequencing screening, 309-431 genes harbouring variants, including SNPs and indels, were predicted to be harmful per single patient in each group. In genetic variations of nIHH patients' analysis, variants were detected in 10 loci and nine genes in nine patients. And in co-analysis of the three patient groups, nine nIHH patients, 19 VC patients, and five SN patients shared 116 variants, with 28 variant-harbouring genes detected in five or more patients. We found that the NEFH, CCDC177, and PCLO genes and the Gene Ontology pathways GO:0051301: cell division and GO:0090066: regulation of anatomical structure size may be key factors in the pathogenic mechanism of IHH. Our results suggest that the pathogenic mechanism of IHH is not limited to the central nervous system effects of GnRH but may involve other heterogeneous pathogenic genetic variants that affect peripheral organs.


Subject(s)
Azoospermia , Hypogonadism , Varicocele , Adult , Humans , Male , Azoospermia/genetics , Exome Sequencing , Varicocele/genetics , Hypogonadism/genetics , Hypogonadism/diagnosis , Mutation
13.
J Clin Endocrinol Metab ; 109(2): e522-e530, 2024 Jan 18.
Article in English | MEDLINE | ID: mdl-37795977

ABSTRACT

CONTEXT: Metabolic dysfunction-associated steatotic liver disease (MASLD) is the most prevalent chronic liver disease, affecting one-fourth of the adult population worldwide. Recent data found an association between MASLD and hypogonadism, but this relation in patients with type 2 diabetes mellitus (T2DM) is still unclear. OBJECTIVE: To evaluate in men with T2DM the association between total testosterone (TT) and noninvasive indices of hepatic steatosis (Fatty Liver Index [FLI], Hepatic Steatosis Index [HSI], Dallas Steatosis Index [DSI]) and fibrosis (AST to Platelet Ratio Index [APRI], Fibrosis-4 Index [FIB-4]), and their predictive cutoff values in identifying hypogonadism. METHODS: Cross-sectional study on 189 men with T2DM, without history of liver diseases and alcoholism, recruited on an outpatient basis. Interventions were andrological evaluation, metabolic parameters, TT, and liver indices. The main outcome measures were comparison of steatosis and fibrosis indices with testosterone levels and presence of hypogonadism. Receiver operating characteristic curves were used to identify cutoff values of liver indices in predicting low testosterone (<12 nmol/L). RESULTS: FLI, HSI, and DSI were negatively related with TT and were higher in the low-testosterone group than in the normal-testosterone group (FLI: 74.1 [61.4-93.5] vs 56.5 [32.1-78.2], P < .001; HSI: 41.5 [39.2-45.9] vs 40.1 [36.6-43.2], P = .005; DSI: 0.45 [-0.08-+1.04] vs -0.07 [-1.02-+0.58], P < .001). FLI and DSI also correlated with clinical symptoms of hypogonadism. No differences between groups were observed for APRI and FIB-4. FLI ≥63 was the best parameter as predictive index of low TT (sensitivity 73%, specificity 64%). CONCLUSION: We found an association between noninvasive indices of steatosis and hypogonadism in patients with T2DM. These indices could be used to direct the patients to andrological evaluation.


Subject(s)
Diabetes Mellitus, Type 2 , Fatty Liver , Hypogonadism , Adult , Humans , Male , Diabetes Mellitus, Type 2/complications , Diabetes Mellitus, Type 2/epidemiology , Cross-Sectional Studies , Hypogonadism/complications , Hypogonadism/diagnosis , Hypogonadism/epidemiology , Fatty Liver/complications , Testosterone , Fibrosis
14.
J Pediatr Endocrinol Metab ; 37(1): 1-7, 2024 Jan 29.
Article in English | MEDLINE | ID: mdl-37997801

ABSTRACT

Patients with congenital hypogonadism will encounter many health care professionals during their lives managing their health needs; from antenatal and infantile periods, through childhood and adolescence, into adult life and then old age. The pubertal transition from childhood to adult life raises particular challenges for diagnosis, therapy and psychological support, and patients encounter many pitfalls. Many patients with congenital hypogonadism and delayed or absent puberty are only diagnosed and treated after long diagnostic journeys, and their management across different centres and countries is not well standardised. Here we reconsider the management of pubertal delay, whilst addressing problematic diagnostic issues and highlighting the limitations of historic pubertal induction protocols - from the perspective of both an adult and a paediatric endocrinologist, dealing in our everyday work with the long-term adverse consequences to our hypogonadal patients of an incorrect and/or late diagnosis and treatment in childhood.


Subject(s)
Hypogonadism , Puberty, Delayed , Pregnancy , Adult , Adolescent , Child , Humans , Female , Puberty, Delayed/diagnosis , Puberty, Delayed/etiology , Puberty, Delayed/therapy , Hypogonadism/diagnosis , Hypogonadism/therapy , Hypogonadism/congenital , Puberty
15.
Am J Med Genet A ; 194(1): 100-102, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37706616

ABSTRACT

Woodhouse-Sakati syndrome consists of hypogonadism, diabetes mellitus, alopecia, ECG abnormalities, and dystonia. This condition is caused by the loss of function of the DCAF17 gene. Most of the patients have been reported from Greater Middle Eastern countries. We report a 38 male from southern India who presented with syncope and massive hemoptysis due to ruptured bronchopulmonary collaterals. He also had alopecia, cataracts, recently diagnosed diabetes and hypogonadism. Whole exome sequencing showed a novel homozygous truncating variant in the DCAF17 gene. Despite embolization of the aortopulmonary collaterals, the patient died of recurrent hemoptysis.


Subject(s)
Diabetes Mellitus , Hypogonadism , Intellectual Disability , Humans , Male , Hemoptysis , Nuclear Proteins/genetics , Diabetes Mellitus/diagnosis , Diabetes Mellitus/genetics , Diabetes Mellitus/pathology , Alopecia/complications , Alopecia/diagnosis , Alopecia/genetics , Intellectual Disability/diagnosis , Intellectual Disability/genetics , Intellectual Disability/pathology , Hypogonadism/diagnosis , Hypogonadism/genetics , Hypogonadism/pathology , Ubiquitin-Protein Ligase Complexes
16.
Z Gerontol Geriatr ; 57(1): 43-49, 2024 Feb.
Article in English | MEDLINE | ID: mdl-37674061

ABSTRACT

BACKGROUND: Clinical data regarding hypogonadism in very old men with multimorbidity are rare. Hypogonadism can contribute to osteoporosis, anemia and sarcopenia and is therefore a relevant problem for geriatric patients. METHODS: A total of 167 men aged 65-96 years (mean 81 ± 7 years) admitted to an acute geriatric ward were included in a cross-sectional study. Body composition derived from dual-energy X­ray absorptiometry, bone mineral density, handgrip strength, multimorbidity, polypharmacy and laboratory values were obtained from the routine electronic clinical patient file. RESULTS: Hypogonadism was present in 62% (n = 104) of the study participants, of whom 83% showed clinical manifestation of hypogonadism (hypogonadism in combination with anemia, sarcopenia and/or low T­score). The subgroups showed a distribution of 52% primary and 48% secondary hypogonadism. Compared to the eugonadal patients, hypogonadal patients had reduced handgrip strength (p = 0.031) and lower hemoglobin levels (p = 0.043), even after adjustment for age, body mass index and glomerular filtration rate. CONCLUSION: Hypogonadism is common in geriatric patients. If chronic anemia, sarcopenia, or osteoporosis are diagnosed, testosterone levels should be determined in geriatric settings.


Subject(s)
Anemia , Hypogonadism , Osteoporosis , Sarcopenia , Male , Humans , Aged , Sarcopenia/diagnosis , Sarcopenia/epidemiology , Sarcopenia/complications , Hand Strength , Cross-Sectional Studies , Multimorbidity , Hypogonadism/diagnosis , Hypogonadism/epidemiology , Hypogonadism/complications , Osteoporosis/diagnosis , Osteoporosis/epidemiology , Osteoporosis/complications , Anemia/diagnosis , Anemia/epidemiology , Anemia/complications , Testosterone
17.
BMC Endocr Disord ; 23(1): 274, 2023 Dec 14.
Article in English | MEDLINE | ID: mdl-38093297

ABSTRACT

BACKGROUND: The nucleoside transport capabilities of the human equilibrative nucleoside transporter-3 (hENT3) are disrupted by mutations in SLC29A3 (10q22.2), which are genes for the nucleoside transporter and are the cause of the unusual autosomal recessive disease known as H syndrome. As a result, histiocytic cells invade a number of organs. CASE PRESENTATION: A 17-year-old Syrian male was admitted to the internal medicine department with a one-month history of polyuria, polydipsia, general weakness, and pallor. He had a history of progressive bilateral sensorineural hearing loss and failure to gain weight for three years. Physical examination revealed various abnormalities, including scrotal mass, small penis and testicles, absence of pubic and axillary hair, joint abnormalities, short stature, hallux valgus, fibrous protrusion near the navel, and hyperpigmented non-itchy painful skin plaques. Clinical signs along with laboratory test results confirmed hyperglycemia, primary hypogonadism, osteopenia, and growth hormone deficiency. After a review of the relevant medical literature, this patient's presentation of hyperglycemia with hypogonadism, hyperpigmentation, hallux valgus, hearing loss, hematological abnormalities, and short stature suggested the diagnosis of H syndrome. The patient received treatment with insulin and testosterone, leading to a significant improvement in his presenting symptoms. CONCLUSIONS: H syndrome is a very rare condition, and the fact that the first case has only recently been reported in Syria serves to emphasize how rare it is. H Syndrome should be suspected if a patient has short stature with signs of hyperglycemia and other endocrine and cutaneous abnormalities. We are reporting this case to increase physicians' awareness of this exceedingly rare and unique syndrome.


Subject(s)
Dwarfism , Hallux Valgus , Hearing Loss, Sensorineural , Hyperglycemia , Hyperpigmentation , Hypogonadism , Humans , Male , Adolescent , Syria , Hyperpigmentation/diagnosis , Hyperpigmentation/genetics , Hearing Loss, Sensorineural/diagnosis , Hearing Loss, Sensorineural/genetics , Hypogonadism/complications , Hypogonadism/diagnosis , Hypogonadism/genetics , Nucleoside Transport Proteins/genetics , Growth Hormone
18.
J Med Case Rep ; 17(1): 530, 2023 Dec 25.
Article in English | MEDLINE | ID: mdl-38143282

ABSTRACT

BACKGROUND: Prader-Willi syndrome is a complex multisystem disorder due to the absent expression of paternally active genes in the Prader-Willi syndrome-critical region on chromosome 15 (15q11.2-q13). The main clinical features are hyperphagia (which frequently results in early-onset obesity), hypogonadism, developmental delays, typical behaviors (such as obsessive-compulsive tendencies, tantrums, perseveration, insistence on sameness, and rigidity), and distinctive facial features. In infants, the most prominent findings are hypotonia and feeding difficulties. CASE PRESENTATION: This paper highlights a case of a 14 year old male patient of an Ethiopian ethnicity with diagnosis of Prader-Willi syndrome, which is first report in Ethiopia. He presented with progressive excessive weight gain, insatiable appetite, clinical and laboratory features of hypogonadism, ophthalmological refractory error, and facial features of Prader-Willi syndrome, which was further confirmed by genetic analysis. He is currently on lifestyle intervention, testosterone replacement, and treatment for vitamin D deficiency. CONCLUSION: Prader-Willi syndrome should be considered in a child who presents with progressive weight gain and other typical clinical features such as cognitive impairment, excessive insatiable eating, or hypothalamic hypogonadism. Early lifestyle intervention may help to reduce excessive weight gain. To our knowledge, this is the first case reported in Ethiopia.


Subject(s)
Cognitive Dysfunction , Hypogonadism , Prader-Willi Syndrome , Adolescent , Humans , Male , Ethiopia , Hypogonadism/diagnosis , Prader-Willi Syndrome/complications , Prader-Willi Syndrome/diagnosis , Prader-Willi Syndrome/genetics , Weight Gain
19.
Eur J Endocrinol ; 189(6): 601-610, 2023 Dec 06.
Article in English | MEDLINE | ID: mdl-38102386

ABSTRACT

OBJECTIVE: Symptomatic hypogonadism discourages men from stopping anabolic-androgenic steroids (AAS). Some men illicitly take drugs temporarily stimulating endogenous testosterone following AAS cessation (post-cycle therapy; PCT) to lessen hypogonadal symptoms. We investigated whether prior PCT use was associated with the normalization of reproductive hormones following AAS cessation. METHODS: Retrospective analysis of 641 men attending a clinic between 2015-2022 for a single, nonfasting, random blood test <36 months following AAS cessation, with or without PCT. Normalized reproductive hormones (ie, a combination of reference range serum luteinizing hormone, follicle-stimulating hormone, and total testosterone levels) were the surrogate marker of biochemical recovery. RESULTS: Normalization of reproductive hormones was achieved in 48.2% of men. PCT use was associated with faster biochemical recovery (13.0 (IQR8.0-19.0) weeks, PCT; 26.0 (IQR10.5-52) weeks, no-PCT; P < .001). Odds of biochemical recovery during multivariable analysis were: (1) higher with PCT (OR3.80) vs no-PCT (P = .001), in men stopping AAS ≤3 months previously; (2) reduced when 2 (OR0.55), 3 (OR0.46), or 4 (OR0.25) AAS were administered vs 1 drug (P = .009); (3) lower with AAS >6 vs ≤3 months previously (OR0.34, P = .01); (4) higher with last reported AAS >3 months (OR 5.68) vs ≤3 months (P = .001). PCT use was not associated with biochemical recovery in men stopping AAS >3 months previously. CONCLUSION: Without evidence-based withdrawal protocols, men commonly try avoiding post-AAS hypogonadism with PCT, which is illicit, ill-defined, and not recommended. Only half of men had complete biochemical testicular recovery after stopping AAS. The surprising association of self-reported PCT use with short-term biochemical recovery from AAS-induced hypogonadism warrants further investigation.


Subject(s)
Anabolic Agents , Hypogonadism , Male , Humans , Retrospective Studies , Anabolic Androgenic Steroids , Anabolic Agents/adverse effects , Testosterone Congeners/adverse effects , Testosterone , Hypogonadism/chemically induced , Hypogonadism/drug therapy , Hypogonadism/diagnosis , Androgens/adverse effects
20.
Niger J Clin Pract ; 26(10): 1552-1556, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37929534

ABSTRACT

Background: Delayed puberty (DP) affects approximately 2% of adolescents. In most patients of both genders, delayed puberty is due to constitutional delay in growth and puberty (CDGP); it is a self-limiting condition starting later than usual during puberty but progressing normally. Other causes of DP include permanent hypogonadotropic hypogonadism, functional hypogonadotropic hypogonadism, and gonadal insufficiency. Methods: Nine patients admitted to the Ankara Atatürk Sanatoryum Training and Research Hospital Pediatric Endocrinology Department with hypogonadotropic hypogonadism between January 2012 and December 2022 were analyzed. Results: Nine patients who applied to our pediatric endocrinology clinic with delayed puberty were analyzed. These nine patients were diagnosed and reported as hypogonadotropic hypogonadism with molecular methods. We aimed to determine the status of these cases from a molecular point of view, to emphasize the importance of hypogonadotropic hypogonadism in patients with delayed puberty, and to reveal the rarely encountered delayed puberty together with the clinical and laboratory data set of the patients. Conclusions: To emphasize the importance of hypogonadotropic hypogonadism, which is a rare cause of delayed puberty, the molecular predispositions of our patients followed in our clinic are reviewed, and the data we have provided will contribute to the accumulation of data in this area.


Subject(s)
Hypogonadism , Puberty, Delayed , Adolescent , Female , Humans , Male , Diagnosis, Differential , Growth Disorders/complications , Hypogonadism/complications , Hypogonadism/diagnosis , Puberty , Puberty, Delayed/etiology
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