Examination revealed an absence of body hair, cryptorchidism, micropenis, and gynecomasty. The patient had previously concealed these signs.
[elsevier.es]
• The diagnosis may be suggested by the observation of micropenis or cryptorchidism in infancy, or delayed onset of puberty at a later stage. • Affected individuals have
[medlink.com]
Males present with delayed puberty and may have micropenis (although congenital micropenis is not present in the majority of male KS cases).
[psychology.wikia.org]
This report of a 46,XY patient born with a micropenis consistent with etiology from isolated congenital growth hormone deficiency is used to (1) raise the question regarding
[ncbi.nlm.nih.gov]
Short children, other than those with the classical phenotype of immature chubby facies, truncal obesity and micropenis in boys, or those with history of cranial lesions with
[ncbi.nlm.nih.gov]
[…] perinatal events, prolonged jaundice • Micropenis, undescended testis. • Increased fat • High pitched voice • Low threshold for hypoglycemia 17.
[slideshare.net]
While micropenis and/or cryptorchidism may suggest the disease in infancy or childhood, it is not usually diagnosed until puberty.
[symptoma.com]
The majority of neonates is asymptomatic; nXHH doesn't usually affect intrauterine growth and sexual differentiation, but it may cause micropenis and/or cryptorchidism.
[symptoma.com]
Specific features of LCH may include a small penis (micropenis), a urethra opening (hole) on the underside of the penis rather than at the tip ( hypospadias ), and a scrotum
[rarediseases.info.nih.gov]
Type II, a milder form caused by partial inactivation of the gene, displays a broader range of phenotypic expression ranging from micropenis to severe hypospadias.
[ncbi.nlm.nih.gov]
However, micropenis persisted in six patients.
[ncbi.nlm.nih.gov]
RESULTS A micropenis was found in 46% of patients (n = 24) with a similar proportion in both groups.
[unboundmedicine.com]
Results A micropenis was found in 46% of patients (n = 24) with a similar proportion in both groups.
[scinapse.io]
Neonates and infants may present with micropenis and/or cryptorchidism.
[journals.plos.org]
Cryptorchidism ; Decreased testicular size ; Delayed skeletal maturation ; Gonadotropin deficiency ; Gynecomastia ; Hypogonadotrophic hypogonadism ; Hypoplasia of the uterus ; Micropenis
[mousephenotype.org]
In male individuals with complete forms of CHH, the antenatal and neonatal gonadotropin deficit leads to formation of a micropenis and cryptorchidism, which could undermine
[ncbi.nlm.nih.gov]
We report an 11-month-old boy who was referred for assessment of micropenis and cryptorchidism.
[unboundmedicine.com]
Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and
[ncbi.nlm.nih.gov]
Microcornea Microphthalmia Miosis Nystagmus Optic atrophy Shallow anterior chamber Abnormality of the genitourinary system Decreased testicular size Hypoplastic labia minora Micropenis
[ncbi.nlm.nih.gov]
KW - Malpuech syndrome KW - hydrops fetalis KW - cleft lip and palate KW - caudal appendage KW - micropenis KW - hypoplastic left heart KW - VSD KW - autosomal recessive KW
[rug.nl]
Malpuech syndrome shows IUGR, hypertelorism, cleft lip and palate, micropenis, hypospadias, renal anomalies, and caudal appendage. All are autosomal recessive.
[ncbi.nlm.nih.gov]
We report on two Italian brothers with facial clefting, hypertelorism, urogenital anomalies including micropenis, shawl scrotum, hearing loss, caudal appendage, and umbilical
[ncbi.nlm.nih.gov]
[…] include: mesomelic limb shortening : mesomelia hemivertebrae characteristic facies anomalies fetal facies hypertelorism 3 frontal bossing 3 long philtrum 3 hypogenitalism micropenis
[radiopaedia.org]
Soliman et al (1998) suggested that severe micropenis in patients with Robinow syndrome might improve, if they receive HCG and/or testosterone during infancy.
[cags.org.ae]
Micropenis may be present.
[ncbi.nlm.nih.gov]
We present a 1 month-old infant with Robinow syndrome and large inguinal hernia, undescended testes and micropenis mimicking penile agenesis.
[ncbi.nlm.nih.gov]
One of the patients had fetal facies and micropenis but unusually mild skeletal features.
[ncbi.nlm.nih.gov]
[…] tethered cord ... urinary incontinence ... lower extremity hypotonia ... scoliosis and vertebral fusion ... hypoplastic labia majora and clitoris ... cryptorchidism and micropenis
[ibis-birthdefects.org]
Infant boys with congenital IGD often have micropenis and cryptorchidism.
[ncbi.nlm.nih.gov]
A common cause of micropenis is congenital hypogonadotropic hypogonadism, whether isolated or associated with multiple pituitary hormone deficiencies.
[scienceopen.com]
These symptoms, such as micropenis in this case, can be useful in differentiating IHH and CDP.
[omicsonline.org]
These symptoms, such as micropenis in this case, can be useful in differentiating IHH and CDP.
[omicsonline.org]
Males born with hypogonadotropic hypogonadism often have an unusually small penis (micropenis) and undescended testes (cryptorchidism).
[ghr.nlm.nih.gov]
[…] ml, whereas the normal range is between 12 and 25 ml). [1] Primary amenorrhoea (failure to start menstruation ). [5] Poorly defined secondary sexual characteristics. [2] Micropenis
[en.wikipedia.org]
These symptoms, such as micropenis in this case, can be useful in differentiating IHH and CDP.
[omicsonline.org]
[…] the migration of olfactory neurons, and neurons producing GRH–gonadotropin-releasing hormone; ↓ FSH and LH impairs sperm and androgen production Clinical Delayed puberty, micropenis
[medical-dictionary.thefreedictionary.com]
1. micropenis 2. hypospadius 3. cryptorchidism What is the first measurable indicator that sexual maturation is beginning in boys and girls?
[quizlet.com]
Microcephaly mental retardation spasticity epilepsy Microcephaly mesobrachyphalangy tracheoesophageal fistula syndrome Microcephaly microcornea syndrome Seemanova type Microcephaly micropenis
[statemaster.com]
Malpuech syndrome shows IUGR, hypertelorism, cleft lip and palate, micropenis, hypospadias, renal anomalies, and caudal appendage. All are autosomal recessive.
[ncbi.nlm.nih.gov]
Micropenis MedGen UID: 1633603 •Concept ID: C4551492 • Congenital Abnormality Abnormally small penis.
[ncbi.nlm.nih.gov]
Syndrome (Malpuech Facial Clefting Syndrome; Gypsy Type Facial Clefting Syndrome): Characterized by intrauterine growth retardation, hypertelorism, cleft lip and palate, micropenis
[accesspediatrics.mhmedical.com]
The clinical picture with perineoscrotal hypospadia, micropenis, gynecomastia and delayed puberty and the serum hormone levels with elevated concentrations of testosterone
[ncbi.nlm.nih.gov]
After puberty they showed small testes, no palpable prostate, micropenis, azoospermia, and gynecomastia.
[ncbi.nlm.nih.gov]
In the two living members, one had a micropenis with otherwise normal genitalia, while the other had a small phallus, perineoscrotal hypospadias, bifid scrotum, and persistence
[jamanetwork.com]
Affected individuals presented a wide phenotypic spectrum, ranging from complete female external genitalia to males with micropenis.
[ncbi.nlm.nih.gov]
A carrier of a homozygous mutant LHR that is severely but not completely affected in its activity, such as the LHR-C131R mutant (8), has a micropenis with hypospadias.
[yumpu.com]
Here, we report the case of an adolescent who came to the pediatric endocrinologist at the age of 12 years old for micropenis and cryptorchidism.
[ncbi.nlm.nih.gov]
Mutations in the AR gene can be associated with isolated micropenis without other features of PAIS, such as hypospadias or gynecomastia.
[ncbi.nlm.nih.gov]
In two thirds of males, this results in micropenis.
[ncbi.nlm.nih.gov]
After a human chorionic gonadotropin stimulation test, a normal rise in testosterone (4.75 ng/ml) without growth of the micropenis was noted.
[doi.org]
Google Scholar 6 : Micropenis: medical and surgical implications. J Urol 1994 ; 152 : 4. Google Scholar 7 : Micropenis. I: Criteria, etiologies and classification.
[auajournals.org]
Four 46,XY individuals presented severe hypospadias at birth, one of them associated with micropenis and cryptorchidism.
[ncbi.nlm.nih.gov]
The clinical spectrum is heterogeneous, ranging from a female with a blind vaginal pouch to a fully male phenotype with hypospadias and micropenis.
[orpha.net]
[…] patients with lissencephaly are males who presented with a posterior-to-anterior gradient, moderately increased thickness of the brain cortex, agenesis of corpus callosum, micropenis
[ncbi.nlm.nih.gov]
Environmental endocrine disruptors have been implicated in the dramatic rise in neonatal ambiguous genitalia with variable rates of severity, such as micropenis, cryptorchidism
[ncbi.nlm.nih.gov]
Binocular depth perception appeared particularly useful in distinguishing either a micropenis or enlarged clitoris from labia minora, since it helps in the estimation of size
[ncbi.nlm.nih.gov]
Patients with micropenis must be carefully evaluated for other endocrine and central nervous system anomalies.
[accessmedicine.mhmedical.com]
Ruling out micropenis in this situation is important.
[emedicine.medscape.com]
The approach to management of micropenis has undergone gradual change in recent years, but androgen replacement is the basic requirement.
[accessmedicine.mhmedical.com]
In the first, amniocentesis was performed at 26 weeks' gestation for polyhydramnios, unilateral clubfoot and micropenis.
[ncbi.nlm.nih.gov]
We report a case of 49, XXXXY syndrome confirmed by chromosomal study in neonatal period, whose clinical features included a coarse face, short neck, micropenis, and other
[kjp.or.kr]
Four patients were treated with prepubertal testosterone for micropenis and two of them are in puberty under testosterone replacement treatment.
[abstracts.eurospe.org]
Clinical features included hypoplasia or aplasia of upper limbs on the ulnar side in the three affected individuals, micropenis with or without cryptorchidism, and hypoplastic
[ncbi.nlm.nih.gov]
Genital anomalies, such as micropenis, shawl scrotum, and imperforate hymen are further features. A wide range of phenotypic expression exists in UMS.
[link.springer.com]
[…] nipples. 3 Reduced or inability to lactate and uterine defects can be seen in females. 1, 2, 4 Delayed puberty and genital hypoplasia is frequently seen in males, resulting in micropenis
[ncbi.nlm.nih.gov]
We report a male neonate with no family history of reproductive disorders who was born with micropenis and cryptorchidism.
[ncbi.nlm.nih.gov]
Micropenis combined with cryptorchidism was the most common phenotype (39%).
[ncbi.nlm.nih.gov]
The 20-year-old male was referred because of typical signs of complete hypogonadism, with small intrascrotal testes (2 ml), no pubic hair (P1), and a micropenis.
[ncbi.nlm.nih.gov]
Ruling out micropenis in this situation is important.
[emedicine.medscape.com]
After birth, either disrupting the androgen signal or increasing the estrogen signal resulted in micropenis, according to the findings.
[sciencedaily.com]
Often called micropenis, it may affect fertility when the child becomes adult.
[tandurust.com]
Sex chromosome abnormalities should especially be kept in mind in the evaluation of patients with micropenis, mental retardation and accompanying behavioral disturbances.
[unboundmedicine.com]
Case presentation Here, we report a boy with 48,XXXY/49,XXXXY mosaicism, phenotypically characterized by hypotonia, intellectual disability, ventricular septal defect, micropenis
[paperity.org]
The term “micropenis” is often used. As a result of early language deficits, they have increased propensity for reading and spelling problems and social difficulties.
[gagesstory48syndrome.weebly.com]
In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism.
[orpha.net]
The patient had intrauterine growth restriction (IUGR) and dysmorphic features comprising small, low-set ears, micrognathia, bilateral cryptorchidism, micropenis, and skeletal
[ncbi.nlm.nih.gov]
[…] characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies (such as cryptorchidism, posterior hypospadias, and micropenis
[orpha.net]
More on Talipes equinovarus » Micropenis : Summary : Abnormally small penis.
[familydiagnosis.com]
[…] mandible condyle Microcephaly Triangular face Abnormality of limbs Brachydactyly Short middle phalanx of finger Talipes equinovarus Abnormality of the genitourinary system Micropenis
[familydiagnosis.com]
Abnormality of the cardiovascular system Abnormal cardiac septum morphology Abnormality of the eye Strabismus Abnormality of the genitourinary system Cryptorchidism Hypospadias Micropenis
[ncbi.nlm.nih.gov]
In the first patient a history of cryptorchidism and the clinical findings of anosmia, micropenis and bimanual synkinesis suggested a contiguous gene syndrome, comprising
[researchprofiles.herts.ac.uk]
Micropenis: an animal model and its human correlates. Adv. Exp. Med. Biol. 511, 41–54 (2002). 36. Baker, T. G. & Scrimgeour, J. B.
[nature.com]
Congenital hypogonadotropic hypogonadism and micropenis: effect of testosterone treatment on adult penile size why sex reversal is not indicated. J.
[nature.com]
Ruling out micropenis in this situation is important.
[emedicine.medscape.com]
Micropenis Micropenis refers to an extremely small penis with a stretched penile length of less than the average for age or stage of sexual development.
[penileboost.com]
Penis small but normal ratio of shaft length to circumference Defined as stretched length < 2.5 standard deviations below mean for age (Wikipedia: Micropenis [Accessed 28
[pathologyoutlines.com]
