- Complete Kisspeptin Receptor Inactivation Does Not Impede Exogenous GnRH-Induced LH Surge in Humans. [Journal Article]
- JCJ Clin Endocrinol Metab 2018 Aug 16
- CONCLUSIONS: GnRH pulsatile therapy can induce a LH surge in a woman with a mutated KISS1R which is supposed to be completely inactivated in-vivo.
- The H Syndrome: A Genodermatosis. [Journal Article]
- CCureus 2018 Jun 08; 10(6):e2763
- H syndrome (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), ...
H syndrome (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, hyperglycemia/insulin-dependent diabetes mellitus, and hallux valgus/flexion contractures. Exophthalmos, malabsorption, renal anomalies, flexion contractions of interphalangeal joints and hallux valgus, and lytic bone lesions, as well as osteosclerosis, are also seen. If these are lacking, the constellation of additional findings should raise suspicion for H syndrome. As most of the patients reported to date with H syndrome are from traditional, low-income populations, where consanguinity is common, it is highly important to develop a cheap and affordable technique for a mutation analysis. Two siblings presented to us, diagnosed as having insulin-dependent diabetes mellitus (IDDM) since the age of eight years and progressive flexion contracture of the small joints for seven-eight years. On examination, both had short stature. One also had bilateral cervical lymphadenopathy. The female had the Tanner stage of B3P3A2 M0 and the male had the Tanner stage of prepuberty. Laboratory workup, including antinuclear antibodies, rheumatoid factor, erythrocyte sedimentation rate, thyroid profile, and Celiac serology were negative. Genetic studies confirmed the diagnosis of H syndrome.
- Male and Female Hypogonadism. [Review]
- NCNurs Clin North Am 2018; 53(3):395-405
- Hypogonadism is a clinical syndrome that results in hormone deficiency in men and women. Primary hypogonadism is caused by gonadal (testicular or ovarian) failure. Secondary hypogonadism is the resul...
Hypogonadism is a clinical syndrome that results in hormone deficiency in men and women. Primary hypogonadism is caused by gonadal (testicular or ovarian) failure. Secondary hypogonadism is the result of a dysfunction within the hypothalamus and/or pituitary. Diagnosis of hypogonadism requires a comprehensive health history, evaluation of the signs and symptoms, complete physical examination, as well as laboratory and diagnostic testing for both sexes. Hormone replacement is the hallmark of hypogonadism treatment. Restoring and/or maintaining quality of life is a major consideration in the management of patients with hypogonadism.
- Evaluation of Sexual Function in Women with Hypogonadotropic Hypogonadism Using the Female Sexual Function Index (FSFI) and the Beck Depression Inventory (BDI). [Journal Article]
- MSMed Sci Monit 2018 Aug 12; 24:5610-5618
- CONCLUSIONS: Women with HH require both physical and psychological support to improve their sexual function, self-esteem, mental health, and quality of life.
- Osteoporosis: Current Concepts. [Review]
- JJoints 2018; 6(2):122-127
- Osteoporosis is a worldwide disease characterized by reduction of bone mass and alteration of bone architecture resulting in increased bone fragility and increased fracture risk. Causes of osteoporos...
Osteoporosis is a worldwide disease characterized by reduction of bone mass and alteration of bone architecture resulting in increased bone fragility and increased fracture risk. Causes of osteoporosis include increasing age, female sex, postmenopausal status, hypogonadism or premature ovarian failure, low body mass index, ethnic background, rheumatoid arthritis, low bone mineral density (BMD), vitamin D deficiency, low calcium intake, hyperkyphosis, current smoking, alcohol abuse, immobilization, and long-term use of certain medications. The diagnosis of osteoporosis is established by measurement of BMD of the hip and spine using dual energy X-ray absorptiometry. According to the World Health Organization criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviation or more below the average value for young healthy women. Bone turnover biomarker detection may be useful in monitoring osteoporosis treatment and assessing fracture risk but not for diagnosis of osteoporosis. Management of osteoporosis consists of nonpharmacological interventions, which are recommended for all subjects, and pharmacological therapy in all postmenopausal women who have had an osteoporotic fracture or have BMD values consistent with osteoporosis.
- Delayed puberty versus hypogonadism: a challenge for the pediatrician. [Journal Article]
- APAnn Pediatr Endocrinol Metab 2018; 23(2):57-61
- Constitutional delay of growth and puberty (CDGP) is the most common cause of delayed puberty (DP), is mainly found in males, and is characterized by short stature and delayed skeletal maturation. A ...
Constitutional delay of growth and puberty (CDGP) is the most common cause of delayed puberty (DP), is mainly found in males, and is characterized by short stature and delayed skeletal maturation. A family history of the subject comprising the timing of puberty in the parents and physical examination may provide clues regarding the cause of DP. Delayed onset of puberty is rarely considered a disease in either sex. In fact, DP usually represents a common normal variant in pubertal timing, with favorable outcomes for final height and future reproductive capacity. In adolescents with CDGP, a linear growth delay occurs until immediately before the start of puberty, then the growth rate rapidly increases. Bone age is often delayed. CDGP is a diagnosis of exclusion; therefore, alternative causes of DP should be considered. Functional hypogonadotropic hypogonadism may be observed in patients with transient delay in hypothalamic-pituitary-gonadal axis maturation due to associated conditions including celiac disease, inflammatory bowel diseases, kidney insufficiency, and anorexia nervosa. Permanent hypogonadotropic hypogonadism (pHH) showing low serum value of testosterone or estradiol and blunted follicle-stimulating hormones (FSH) and luteinizing hormones (LH) levels may be due to abnormalities in the central nervous system. Therefore, magnetic resonance imaging is necessary to exclude morphological abnormalities and neoplasia. Moreover, pHH may be isolated, as observed in Kallmann syndrome, or associated with other hormone deficiencies, as found in panhypopituitarism. Baseline or gonadotropin-releasing hormone pituitary stimulated gonadotropin level is not sufficient to easily differentiate CDGP from pHH. Low serum testosterone in male patients and low estradiol values in female patients, associated with high serum FSH and LH levels, suggest a diagnosis of hypergonadotropic hypogonadism. A genetic analysis can reveal a chromosomal abnormality (e.g., Turner syndrome or Klinefelter syndrome). In cases where the adolescent with CDGP is experiencing psychological difficulties, treatment should be recommended.
- Prolactin-Producing Pituitary Carcinoma, Hypopituitarism, and Graves' Disease-Report of a Challenging Case and Literature Review. [Journal Article]
- FEFront Endocrinol (Lausanne) 2018; 9:312
- CONCLUSIONS: This report highlights an unusual presentation of a prolactin-producing pituitary carcinoma in a young female. The patient had multiple hormone deficiencies due to a pituitary lesion and treatments. The posterior development of hyperthyroidism and adrenal insufficiency brought an additional difficulty to the approach.
- Rhinencephalon changes in tuberous sclerosis complex. [Journal Article]
- NNeuroradiology 2018 Jun 17
- CONCLUSIONS: Olfactory bulb and/or forebrain changes are not rare among TSC subjects. Future studies investigating clinical consequences in older subjects (anosmia, gonadic development etc.) will define whether rhinencephalon changes are simply an imaging feature among the constellation of TSC-related brain changes or a feature to be searched for possible implications in the management of TSC subjects.
- Transition in Pediatric and Adolescent Hypogonadal Girls: Gynecological Aspects, Estrogen Replacement Therapy, and Contraception. [Journal Article]
- EDEndocr Dev 2018; 33:113-127
- Hypogonadism may be suspected if puberty is delayed. Pubertal delay may be caused by a normal physiological variant, by primary ovarian insufficiency (Turner syndrome), or reflect congenital hypogona...
Hypogonadism may be suspected if puberty is delayed. Pubertal delay may be caused by a normal physiological variant, by primary ovarian insufficiency (Turner syndrome), or reflect congenital hypogonadotropic hypogonadism (HH; genetic) or acquired HH (brain lesions). Any underlying chronic disease like inflammatory bowel disease, celiac disease, malnutrition (anorexia or orthorexia), or excessive physical activity may also result in functional HH. Thus, girls with delayed puberty should be evaluated for an underlying pathology before any treatment, including oral contraception, is initiated. Estrogen replacement is important and natural 17β-estradiol, preferably transdermally, is the preferred choice, whereas the oral route can be used as an alternative depending on patient preference and compliance. Sexual activity is often delayed in the hypogonadal adolescent girl. In the adolescent hypogonadal girl, hormone replacement therapy (HRT) most likely has been initiated at the time she becomes sexually active. If a risk of unwanted pregnancy cannot be ruled out, there is a need to consider contraception. This consideration does not contradict the principles of HRT but can be included as a part of the substitution, e.g. oral contraceptives containing 17β-estradiol or a progestogen intrauterine device combined with continuous 17β-estradiol (transdermal or oral).
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- Association between Low Testosterone Levels and Sarcopenia in Cirrhosis: A Cross-sectional Study. [Journal Article]
- AHAnn Hepatol 2018 July - August ,; 17(4):615-623
- CONCLUSIONS: Low testosterone levels are associated with sarcopenia in male cirrhotic patients. The potential therapeutic effect of testosterone to reverse sarcopenia in these patients warrants evaluation in future trials.