Endocrine Abstracts

Gonadotropin-releasing hormone analogues (GnRHa) are prescribed to adolescents with gender dysphoria under age 15 who have reached Tanner stage 2/3 to prevent progression through puberty and allow them time to consider their gender identity. The possible effects of the therapy on the pubertal growth spurt are poorly understood. A height more congruent with their identified gender is desired by transgender individuals, thus it is crucial that they are fully informed of its pote...

Context: Turner syndrome (TS) is associated with short stature, delayed puberty, primary ovarian insufficiency, infertility, and other features. The majority of girls with TS require pubertal induction and life-long oestrogen replacement therapy. There is paucity of data in adult TS on the efficacy of pubertal induction, such as breast satisfaction. Patient-related outcome measures (PROMs) assess the quality of care and treatment from the patient’s perspective. We have em...

Gonadal dysgenesis (GD) is characterised by maldevelopment of the gonads and is classified as complete (CGD) or partial (PGD) depending on gonadal morphology and function. The phenotype of PGD is variable and diagnosis is based on clinical and biochemical features, coupled with gonadal histology and genetic findings. “46,XY Gonadal Dysgenesis: diagnosis and long-term outcome” has recently been approved as an I-DSD Registry-based study. The aim is to characterise the ...

Background and Purpose: AHC (X-linked adrenal hypoplasia congenita) is a rare cause of adrenal insufficiency due to mutations in NROB1 gene. It traditionally causes hypogonadotropic hypogonadism. Rare cases of central precocious puberty due to NROB1 mutation has been reported so far. We present two interesting cases of NROB1 mutation from a same family with different presentations. This is first case report of NROB1 mutation from Pakistan. Case Report: I...

Background: Turner’s syndrome (TS) affects 25-50 per 100,000 females. Germinal cell tumour risk is described for TS with Y-chromosome presence (12%) and gonadal dysgenesis (15-35%) but other cancer risk is less well described. Neuroblastoma accounts for 6% of UK childhood cancer registrations, is the commonest cancer diagnosed in the first year of life and the most common extra-cranial solid tumour in childhood. It carries a UK incidence of 10.9 cases/million children. Pr...

Background: Klinefelter syndrome is the most common sex chromosome abnormality causing primary hypogonadism and affects approximately 1 to 2.5 per 1000 males. However, other rarer sex chromosomal abnormalities have been associated to testicular dysfunction.Clinical Case: A thirteen-year-old male was referenced to Pediatric consultation due to obesity starting around age four. Perinatal background: maternal gestational diabetes controlled with diet and 10...