Endocrine Abstracts

Background: Klinefelter Syndrome (KS) affects approximately 1 in 500 males and presents with different phenotypes. KS affects spermatogenesis and causes infertility but can also impact neurocognitive and psychological development or affect other systems like cardiovascular, dental, skeletal. European Academy of Andrology has published recommendations regarding holistic KS management, including the fertility aspects, from childhood until adulthood.<p class=...

Background: Alstrom syndrome (AS) is a very rare multisystem disorder secondary to mutations in the ALMS1 gene, associated with infantile cardiomyopathy, retinal dystrophy, early onset obesity, and diabetes. Whilst a previous international review, including 35 males, cited pubertal delay and hypogonadism to be common, no detailed characterisation of puberty exists. This retrospective longitudinal analysis aims to describe puberty in boys with AS.<p class="...

Introduction: DSD includes variations in the development of chromosomal, gonadal, or anatomical sex and can be subdivided into (XY DSD, XX DSD, and sex chromosomal DSD). Most presentations occur in the neonatal period with atypical genitalia or discordant phenotype and antenatal genotype, but later presentations occur raising complex diagnostic and clinical management issues.Objective: To characterise the etiological, cl...

Background: Testosterone therapy is recommended for the management of puberty in Duchenne muscular dystrophy (DMD) from 12 years, according to the 2018 international standards of care with studies demonstrating improvement in linear growth. The majority become non-ambulant during mid-to-late adolescence. Accurately measuring height in non-ambulant adolescent boys can be challenging compounded by lower limb contractures. Estimated height from segmental body par...

Introduction: Testosterone(T) is converted to dihydrotestosterone(DHT), the most potent androgen, by the enzyme 5alpha-reductase type 2(SRD5A2). During foetal development, the masculinisation of male external genitalia crucially depends on DHT. Pathogenic variants in SRD5A2 cause 46,XY differences in sex differentiation(DSD). Early and accurate diagnosis is paramount to facilitate gender assignment since most reared as females may profoundly virilize at pubert...

Objective: Diagnostic uncertainty arises for paediatric patients when establishing a diagnosis of polycystic ovarian syndrome (PCOS) due to concurrent pubertal changes. Management decisions can also therefore be challenging. The investigations and management of patients referred to the Paediatric Endocrinology Service was audited against international guidelines.Methods: Retrospective audit of patients referred with susp...

Introduction: FKBP prolyl isomerase 4, encoded by the gene FKBP4, is a member of the FK506-binding protein family and is presumed to be a regulator of the androgen receptor (AR) pathway. Mutations in FKBP4 have been proposed to cause Androgen Insensitivity Syndrome (AIS), with only one case reported in the literature so far.Aim: To report the clinical, biochemical and genetic findings in an infant with 46, XY DSD a homoz...

17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects male sexual development. People with this condition are genetically male, with gonads (testes) intact. Their bodies, however, do not produce enough testosterone. Testosterone has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the male phenotype of external genitalia before birth.Case report: 12 years old, re...

Peripheral precocious puberty (PPP) in males is a rare condition characterized by the premature activation of the hypothalamic–pituitary–gonadal axis, resulting in the early onset of secondary sexual characteristics. We present the case of a one-year-old boy from Pakistan who exhibited PPP along with a left hip region mass.The patient’s initial workup revealed remarkably elevated levels of beta-human chorionic gonadotropin (Bhcg) and serum alphafetoprotein (AFP), indicating po...

Introduction: Kallmann syndrome (KS) is a developmental disorder characterised by hypogonadotropic hypogonadism and anosmia. 30% of cases are related with genetic causes, with FGFR1 mutations being identified in 10%. There are more than 140 FGFR1 gene mutations identified. We present a female patient with KS due to a FGFR1 mutation, where the presenting features included primary amenorrhoea and anosmia.Case description: ...