Endocrine Abstracts

Background: Hypogonadotropic hypogonadism is characterised by inadequate secretion of gonadotropins (luteinising hormone (LH) and follicle-stimulating hormone (FSH)) leading to absent, partial or arrested puberty. In males, classical treatment with testosterone promotes virilisation but does not facilitate testicular growth or spermatogenesis. Conversely, treatment with gonadotropins stimulates Sertoli and Leydig cells directly, leading to increased testicular...

The European Academy of Andrology (EAA) recently published consensus guidelines aiming to standardize the care provided to patients with Klinefelter syndrome (KS) across different stages of development. In this retrospective cross-sectional study, we reviewed the clinical care provided to 76 KS patients at Nottingham University Hospitals between 2000 and 2020.Methods: Data regarding age at presentation (n=30 paediatric, adult 46...

An underlying genetic/endocrine cause for severe hypospadias is found in up to 20% of affected boys as described in the literature, with environmental and epigenetic factors also believed to play a role. We conducted a retrospective analysis of 65 boys with severe hypospadias (penoscrotal, scrotal, perineal) managed by Paediatric Urology at Barts Health NHS Trust, born between January 2010 and 2021 (38% white caucasian, 28% asian, 22% black and 12% other/undefined). Boys with ...

Introduction: Timing of DSD surgery is debated. This study aimed to investigate outcomes of genitoplasty in CAH and assess patient’s opinion on surgery.Materials and methods: In this ethically approved prospective study, surgically treated CAH girls ≥16 years completed an electronic questionnaire.Results27 patients were contacted 13 completed questionnaires, 10 declined, 4 did not reply. Current median age 27 ...

XY disorders of sexual development (DSD) are rare causes of primary amenorrhea and are associated with significant diagnostic and therapeutic implications. We report a novel association of compound heterozygous missense NUP107 variants in a girl with hypergonadotropic hypogonadism and XY karyotype. This 17-year-old girl born of consanguineous marriage presented with absent breast development and primary amenorrhea. Her past medical history included the surgical removal of an a...

17 β-Hydroxysteroid Dehydrogenase Type 3 (17β-HSD3) deficiency is an autosomal recessive condition causing 46, XY disorder of sexual development (DSD). The enzyme is responsible for converting of Δ4-Androstenedione (A) to testosterone (T) in testicles. Affected individuals may present with abnormalities of the external genitalia at birth or during childhood and teenage years with virilisation or primary amenorrhea. The aim of this case series is to review the cl...

Recent advancements in genetic testing have revealed various X-chromosome abnormalities as causative factors for both familial and sporadic cases of Primary Ovarian Insufficiency (POI). In this case report, we present an intriguing instance of POI associated with a deletion in the critical region-1 on the long arm of the X-chromosome A 12.5-year-old girl of South Asian descent presented with 8 month history of irregular menstrual periods with bleeding lasting for 10 days and a...

Introduction: 46XY gonadal dysgenesis is one of the important cause of DSD with varied clinical presentation Genetic mutations like SRY, NR5A1, SOX9, DHX37 are common mutations that can cause gonadal dysgenesis. Genetic testing for reaching final diagnosis in 46 XY DSD is increasingly playing a crucial role in the management plan.Case: A 10-month-old patient presented in our DSD clinic with complaint of atypical genitali...

The Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is characterized by congenital absence or underdevelopment of the uterus and upper two thirds of the vagina in females with karyotype XX, alongside normal external genitalia. The prevalence is 1 in 4000 to 5000. It can be divided into two major categories. Type 1 occurs in isolation whilst type 2 involves other organ systems, particularly the renal, vertebral, auditory and cardiac systems. Whilst sporadic i...

Introduction: First described in 1944, the condition is a rare pediatric genetic disease estimated to affect 1 in 48 000 individuals. Kallmann syndrome is an uncommon hereditary disorder and is among the most frequent cause of isolated congenital hypogonadotropic hypogonadism (CHH). In its classical form, it is characterized by hypogonadotropic hypogonadism and anosmia/hyposmia. Absent endogenous GnRH-induced LH pulsations occur due to failure of neuronal migr...