Micropenis

BACKGROUND: Kenny-Caffey syndrome type 2 (KCS2) is an extremely rare inherited disorder characterized by proportionate short stature, skeletal defects, ocular and dental abnormalities, and transient hypocalcemia. It is caused by variants in FAM111A gene. Diagnosis of KCS2 can be challenging because of its similarities to other syndromes, the absence of clear hallmarks and the deficient number of genetically confirmed cases. Here, we aimed to further delineate and summarize the genotype and phenotype of KCS2, in order to get a better understanding of this rare disorder, and promote early diagnosis and intervention...

PURPOSE: Evaluation of preliminary cosmetic and functional outcomes of biodegradable scaffolds covered with platelet-rich plasma in penile girth augmentation. MATERIALS AND METHODS: Between June 2016 and June 2018, 36 males who had a mean age of 28.91 years (range 20 - 48 years) with micropenis underwent this procedure. A mixture of platelets-fibrin glue and mesenchymal cells obtained from dermal fat tissue were prepared. Then the mixture was seeded on the pretreated tube-shaped poly lactic-co-glycolic acid scaffold and underwent a whole day of incubation...

BACKGROUND: Limited research has been conducted regarding the elucidation of genotype-phenotype correlations within the 20q13.33 region. The genotype-phenotype association of 20q13.33 microdeletion remains inadequately understood. In the present study, two novel cases of 20q13.33 microdeletion were introduced, with the objective of enhancing understanding of the genotype-phenotype relationship. METHODS: Two unrelated patients with various abnormal clinical phenotypes from Fujian province Southeast China were enrolled in the present study...

Androgen insensitivity syndrome (AIS) is a rare disorder with X-linked recessive inheritance in 46 XY patients. The clinical manifestations vary between patients, especially regarding external genitalia development. Herein, the case of AIS in a 13-year-old male, who was born with hypospadias and presented to the hospital with gynaecomastia that had developed from 8 years of age, is reported. No micropenis, cryptorchidism or bifid scrotum were found. Testis volume was 12 ml on both sides. His testosterone and luteinizing hormone levels were normal compared with sex- and age-adjusted reference range...

PURPOSE: Leydig cell hypoplasia (LCH) type II is a rare disease with only a few cases reported. Patients presented with hypospadias, micropenis, undescended testes, or infertility. In this study, we report a new patient with compound heterozygous variants in the LHCGR gene and LCH type II phenotype. METHODS: Whole exome sequencing (WES) was performed followed by Sanger sequencing to confirm the detected variants in the patient and his parents. RESULTS: A novel missense variant (p...

Autosomal recessive ROR2-Robinow syndrome is caused by pathogenic variants in the ROR2 gene. Fetal ultrasound done on our patient at 24 + 3/7 weeks gestation showed macrocephaly, brachycephaly, flat face, prominent forehead, mild frontal bossing, lower thoracic hemivertebrae, digital abnormalities and micropenis. Fetal trio whole exome sequencing done on amniocytes showed two pathogenic compound heterozygous variants in the ROR2 gene, c.1324 C > T; p.(Arg442*) maternally inherited and c.1366dup; p...

Anti-Müllerian hormone (AMH) is a Sertoli cell-secreted glycoprotein involved in male fetal sex differentiation: it provokes the regression of Müllerian ducts, which otherwise give rise to the Fallopian tubes, the uterus and the upper part of the vagina. In the first trimester of fetal life, AMH is expressed independently of gonadotropins, whereas from the second trimester onwards AMH testicular production is stimulated by FSH and oestrogens; at puberty, AMH expression is inhibited by androgens. AMH has also been suggested to participate in testicular descent during fetal life, but its role remains unclear...

BACKGROUND: Although some male patients with congenital hypogonadotropic hypogonadism (CHH) undergo spontaneous reversal following treatment, predictors of reversal remain elusive. We aimed to assemble the largest cohort of male patients with CHH reversal to date and identify distinct classes of reversal. METHODS: This multicentre cross-sectional study was conducted in six international CHH referral centres in Brazil, Finland, France, Italy, the UK, and the USA...

There are 3 physiological waves of central hypothalamic-pituitary-gonadal (HPG) axis activity over the lifetime. The first occurs during fetal life, the second-termed "mini-puberty"-in the first months after birth, and the third at puberty. After adolescence, the axis remains active all through adulthood. Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disorder characterized by a deficiency in hypothalamic gonadotropin-releasing hormone (GnRH) secretion or action. In cases of severe CHH, all 3 waves of GnRH pulsatility are absent...

BACKGROUND: This study reported a case of micropenis caused by a novel hemizygous mutation in the ADGRG2 gene, which aimed to expand the understanding of sexual dysplasia caused by ADGRG2 gene mutation. CASE PRESENTATION: We present the clinical data and genetic test results of a patient with micropenis admitted in September, 2022, to the Tongji Hospital. The patient was a 9-year-10- month-old male whose chief complaint was the presence of a short penis over a period of three years...

INTRODUCTION: The testicular regression syndrome (TRS) is a form of differences of sex development (DSD) in which the testes differentiate and function during early embryonic development, but subsequently regress. The clinical phenotype of TRS often overlaps with that of partial gonadal dysgenesis (PGD). Previous studies have demonstrated a causal association between TRS/PGD and heterozygous missense variants of DHX37. METHODS: We enrolled 11 Japanese 46,XY individuals (from 10 families) with TRS/PGD who exhibited undetected or hypoplastic testes, Müllerian duct regression, and low serum testosterone or anti-Müllerian hormone levels...

OBJECTIVE: To analyse the clinical and radiological characteristics of pituitary stalk interruption syndrome (PSIS). METHODS: A retrospective analysis of confirmed cases of PSIS was performed. The development of new pituitary hormonal deficiencies and response to recombinant human growth hormone (rhGH) therapy were assessed during follow-up. RESULTS: This study included 14 children (10 boys) of PSIS with median (range) age of 12.15 years (2 months - 18 years)...

BACKGROUND: Injectable hyaluronic acid (HA) gel has emerged as a widely used soft tissue filler for surgeries. In penile reconstructive surgery, HA gel has been employed for penile or glans augmentation in selected patients diagnosed with micropenis. This augmentation technique involves injecting the gel into submucosal tissue and increasing the size of the penis for approximately 1 year. A few studies have investigated the possible complications correlated with medically assisted penile injections of HA gel...

Kleefstra syndrome is caused by chromosome 9q34.3 deletion or heterozygous mutations in the euchromatin histone methyl transferase 1 (EHMT1) gene. It can be accompanied by intellectual disability, distinctive facial features, microcephaly, psychiatric disorders, hypotonia in childhood, hearing loss, heart defects, renal defects, epilepsy, speech anomalies, and obesity. Furthermore, genital anomalies are present in 30%-40% of male patients with Kleefstra syndrome, but their mechanisms have not been elucidated...

During a routine anatomical dissection of an 81-year-old male cadaver received through the Gift Body Program of Saint Louis University School of Medicine (SLU SOM), a massive bulging in the abdominal area was observed that was consistent with numerous hernia repairs noted in the donor's self-reported medical history. Gross anatomical dissection of the cadaveric body revealed extensive herniation of portions of the small intestine and peritoneal sac along the costal margin and extending to the left aspect of the abdomen...

INTRODUCTION: Variants in genes that play a role in maintaining cellular redox homeostasis in adrenocortical cells may be associated with glucocorticoid deficiency and it is unclear whether these cases may be associated with a wider phenotype. However, to date, only one case of a genetic variant in TXNRD2, the gene encoding thioredoxin reductase Type 2, in a South Asian kindred with familial glucocorticoid deficiency has been reported. CASE PRESENTATION: The index case was diagnosed with selective glucocorticoid deficiency at 10 years of age...

Pontocerebellar hypoplasia (PCH) is a rare neurodegenerative disorder characterized by hypoplasia of the pons and cerebellum and global developmental delay. Among several PCH types, PCH7 is a characteristic type that manifests with not only brain lesions but also sexual developmental disorders. The causative gene, TOE1 , encodes a protein involved in small ribonucleic acid maturation and processing. TOE1 mutation is associated with neuronal survival that causes hypoplasia of the cerebellum and pons. We report the case of a male patient with PCH7, developmental delay, ataxia, micropenis, and undescended testis...

OBJECTIVES: Our study aimed to compare the efficacy of transdermal dihydrotestosterone and testosterone enanthate in treating idiopathic micropenis. PATIENTS AND METHODS: It's a comparative randomized study of 49 patients with idiopathic micropenis who are followed up in the Endocrinology-Diabetology and Nutrition Department of Mohammed VI University Hospital Center of Oujda, Morocco. The study was conducted from December 2019 to April 2021. All patients received a clinical examination including measurement of penis size before and after hormonal treatment...

Objective We aimed to evaluate both the long-term surgical outcomes and patient-reported outcomes of free scapular flap (FSF) phalloplasty. Method The same surgical team performed phalloplasty in 66 patients using a FSF between March 2000 and September 2018. All patients had at least 24 months of follow-up. The surgical techniques used, complications observed, and surgical and patient-reported outcomes were retrospectively described. Results A total of 66 patients with indications of penile trauma (n = 19), micropenis (n = 42), and self-amputation (n = 5) underwent FSF phalloplasty...

In patients with congenital pubic diastasis, who present with polytrauma injury, pubic diastasis could be falsely attributed to the traumatic event. This generally occurs in asymptomatic patients whose anomaly is not diagnosed before the traumatic event. In this report, we present a case of a 26-year-old male with fracture-dislocation of the left hip and congenital agenesis of pubic bones that was initially misdiagnosed as post-traumatic pubic diastasis due to the patient's reduced consciousness. A closer examination led to noticing his micropenis and the scar from the earlier surgical intervention, and thereby, suspicion of the congenital etiology of the pubic diastasis, later confirmed by pre-trauma radiography...