Patient and parent perspectives on testicular adrenal rest tumors in congenital adrenal hyperplasia
Conclusions: Although most responders were concerned about TARTs, less than half recalled discussing this issue with their endocrinologist, and less than half were aware of the possibility of infertility. Although TARTs are most often treated medically, several responders were referred to a urologist. Standardized patient education and consensus guidelines are needed for the surveillance and management of TARTs in males with classic CAH. (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - January 18, 2023 Category: Endocrinology Source Type: research
Adrenal Insufficiency in Peroxisomal Disorders: a Single Institution Case Series
Conclusions: Primary adrenal insufficiency is common in patients with peroxisomal disorder. Based on our data, patients with the compound heterozygous PEX1 pathogenic variants of exon 13 (c.2097dupT and c.2528G>A) tend to have adrenal insufficiency. Aldosterone deficiency, though rare, can occur in PD. (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - January 17, 2023 Category: Endocrinology Source Type: research
Raised Thyroid Stimulating Hormone in Girls with Polycystic Ovary Syndrome:
Effects of Randomized Interventions
Introduction
Polycystic ovary syndrome (PCOS) in women associates with raised levels of circulating thyroid stimulating hormone (TSH) and with high rates of gestational complications. A low range of preconception TSH is followed by low rates of gestational complications. It is unknown whether TSH levels are elevated in adolescents with PCOS and, if so, whether traditional or exploratory treatments can lower them into safe preconception range. We investigated TSH in non-obese adolescents with PCOS, including the effects of randomized interventions.
Methods
Morning TSH was a safety marker in randomized pilot studies compa...
Source: Hormone Research in Paediatrics - January 17, 2023 Category: Endocrinology Source Type: research
Five-Year Therapy with Recombinant Human Insulin-Like Growth Factor-1 in a Patient with PAPP-A2 Deficiency
Conclusion:
Therapy with rhIGF-1 modestly improved linear growth in one patient with PAPPA-2 deficiency, but without true catch-up. Therapy was associated with pseudotumor cerebri in a sibling . Initial improvement in BMD and glycemic pattern on rhIGF-1 was not sustained during puberty. (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - January 16, 2023 Category: Endocrinology Source Type: research
Challenges in the management of a 7 years old child with thyrotropin-secreting pituitary adenoma and the review of the literature
Conclusion: The diagnos is, treatment, and follow-up of TSHomas are challenging and short stature due to accelerated bone maturation is a complication of paediatric TSHomas. (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - January 11, 2023 Category: Endocrinology Source Type: research
Subtotal Parathyroidectomy Successfully Controls Calcium Levels of Patients with Neonatal Severe Hyperparathyroidism Carrying a Novel < b > < i > CASR < /i > < /b > Mutation
Conclusion: We report a novel heterozygous and homozygous missense variant (c.1817T#x3e;C; p.Leu606Pro) inCASR in two NSHPT patients. The mutation likely disrupts conformational changes of CASR and results in cinacalcet unresponsiveness. Intronic variants inCASR identified in the patient with heterozygous variant might have contributed to the clinical manifestations of the patient. Although total parathyroidectomy is widely accepted as a standard treatment for NSHPT, we demonstrate that subtotal parathyroidectomy is also an effective procedure to normalize Ca levels and allow these patients to be in normocalcemia or mild h...
Source: Hormone Research in Paediatrics - January 10, 2023 Category: Endocrinology Source Type: research
Subtotal parathyroidectomy successfully controls calcium levels of patients with neonatal severe hyperparathyroidism carrying a novel CASR mutation
Conclusion: We report a novel heterozygous and homozygous missense variant (c.1817T>C; p.Leu606Pro) in CASR in two NSHPT patients. The mutation likely disrupts conformational changes of CASR and results in cinacalcet unresponsiveness. Intronic variants in CASR identified in the patient with heterozygous variant might have contributed to the clinical manifestations of the patient. Although total parathyroidectomy is wildly accepted as a standard treatment for NSHPT, we demonstrate that subtotal parathyroidectomy is also an effective procedure to normalize Ca levels and allow these patients to be in normocalcemia or mild hyp...
Source: Hormone Research in Paediatrics - January 10, 2023 Category: Endocrinology Source Type: research
Erratum
Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - January 4, 2023 Category: Endocrinology Source Type: research
Higher Prepubertal IGF-1 Concentrations Associate to Earlier Pubertal Tempo in Both Sexes
Conclusions: Higher IGF-1 levels in mid-childhood are associated with earlier puberty onset. The role of IGF-1 in the onset of puberty requires further investigation.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - December 13, 2022 Category: Endocrinology Source Type: research
