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172 Possible Causes for Dysmorphic Face, High Pitched Voice, Male Hypogonadism, Small Scrotum

  • Hypogonadism

    Hands and feet are small. Other features include cryptorchidism and a hypoplastic penis and scrotum.[msdmanuals.com] How does my doctor tell if I have male hypogonadism? How is male hypogonadism treated? What is male hypogonadism?[dartmouth-hitchcock.org] Adolescent boys with hypogonadism typically have undeveloped muscles and genitals, a high-pitched voice, and little or no body hair.[patients.uroweb.org] On physical examination, microcephaly, some dysmorphic face features, and ambiguous genitalia were determined.[ncbi.nlm.nih.gov]

  • Klinefelter Syndrome

    Link found between cryptorchidism and genetic mutations A small percentage of males born with cryptorchidism (failure of one or both testicles to descend into the scrotum)[news-medical.net] Klinefelter syndrome is the most common cause of male hypogonadism with a variety of clinical signs and symptoms.[ncbi.nlm.nih.gov] Sterility (inability to produce live sperm) Overweight Level of activity and endurance lower than others their age Restless sleep patterns, but hard to awake in the morning High-pitched[xxyaware.blogspot.com] […] feet and face, low birth weight and genetic study with e 48 XXYY karyotype.[actapediatrica.com]

  • Eunuchism

    Males Active, not recruiting NCT03335254 Phase 1, Phase 2 TSX-011 15 Study On Bioavailability And Pharmacokinetics Of Various Doses Of Testosterone Administered With And[malacards.org] , which retained a childlike and other-worldly flexibility and treble pitch (a high-pitched voice).[en.wikipedia.org] […] with prune belly syndrome Hypogonadism, male Hypotestosteronism Induced male hypogonadism syndrome Leydig cell failure in adult Male hypogonadism Primary testicular failure[icd9data.com] Androgen Deficient Ageing Males (ADAM), or late-onset hypogonadal males, are lethargic from disturbed sleep, depressed, irritable, have muscle weakness, increased fat at the[testocreams.com]

    Missing: Dysmorphic Face
  • Prader-Willi Syndrome

    All 14 boys had a small scrotum, including nine with cryptorchidism. Diagnoses were made with microarray comparative genomic hybridization.[ncbi.nlm.nih.gov] Hypogonadism is present in both males and females, and is seen as genital hypoplasia, incomplete pubertal development; and most individuals are infertile.[imprinting-disorders.eu] Genetic analyses were performed in a male patient with suspected Prader-Willi syndrome who presented with hypogonadism, excessive eating, central obesity, small hands and[ncbi.nlm.nih.gov] Males may have a small penis and scrotum. The testicles may be small or not descended from the abdomen into the scrotum (cryptorchidism).[mayoclinic.org]

    Missing: High Pitched Voice
  • Kallmann Syndrome

    Male hypogonadism that occur secondary to hypothalamic-pituitary dysfunction is known as hypogonadotropic hypogonadism (HH).[dnatesting.uchicago.edu] Associated findings were hyposmia, high pitched voice, absence of puncta and smooth philtrum. Hormonal assay showed hypogonadotropic hypogonadism.[ncbi.nlm.nih.gov] At the normal age of puberty, they show reduced growth of facial, pubic and body hair, and continue to have a high-pitched voice that does not deepen.[news-medical.net] Causes Male hypogonadism means the testicles don't produce enough of the male sex hormone testosterone. There are two basic types of hypogonadism: Primary.[mayoclinic.org]

    Missing: Dysmorphic Face
  • Klinefelter's Syndrome with XY/XXY Mosaic

    The Klinefelter-boys develop a normal scrotum, and penis is usually of normal size.[klinefelters.org] hypogonadism and increases strength and libido in all variants.[e-ijd.org] In severe cases, t hey have relatively high-pitched voices, asexual to feminine body contours as well as breast enlargement, and comparatively little facial and body hair.[www2.palomar.edu] The phallus has the appearance of a large clitoris, or a small, bent, penis, bound down in structures called chordee.[hemingways.org]

  • Primary Male Hypogonadism

    Hands and feet are small. Other features include cryptorchidism and a hypoplastic penis and scrotum.[merckmanuals.com] Aim: The creation of new experimental model of primary male hypogonadism.[ingentaconnect.com] As adults, affected patients have poor muscle development, a high-pitched voice, a small scrotum, decreased phallic and testicular growth, sparse pubic and axillary hair,[merckmanuals.com] In addition, the operated testes usually remain small in adulthood.[enotes.tripod.com]

    Missing: Dysmorphic Face
  • Laron Syndrome

    Hormonal therapy of male hypogonadism. Endocrinol Metab Clin North Am 1994; 23:857-75. Kbler A, Schulz G, Cordes U, Beyer J, Krause U.[saripediatri.org] Clinically, all three presented with the typical craniofacies of Laron syndrome, consisting of prominent forehead and hypoplastic nasal bridge, high-pitched voice, short stature[ncbi.nlm.nih.gov] The siblings had typical dysmorphic facies: frontal bossing, shallow orbit with blue sclera, saddle nose, mid-face hypoplasia, thin and silky hair and pale texture of skin[pubs.sciepub.com] They had characteristic features and biochemical findings including prominent forehead; depressed nasal bridge; central adiposity; high-pitched voices; micropenis; high GH[ncbi.nlm.nih.gov]

    Missing: Small Scrotum
  • Growth Hormone Deficiency

    We report a novel heterozygous mutation in the SOX2 gene in a male affected with congenital bilateral anophthalmia, hypogonadotrophic hypogonadism and growth hormone deficiency[ncbi.nlm.nih.gov] High pitched voice • Low threshold for hypoglycemia 17.[slideshare.net] A 20-year-old male patient with 4H syndrome.[ncbi.nlm.nih.gov] An additional phenotype of hypopituitarism, with anterior pituitary hypoplasia and hypogonadotropic hypogonadism, has been reported in patients carrying SOX2 alterations.[ncbi.nlm.nih.gov]

    Missing: Small Scrotum
  • Male Hypogonadism

    As adults, affected patients have poor muscle development, a high-pitched voice, a small scrotum, decreased phallic and testicular growth, sparse pubic and axillary hair,[merckmanuals.com] In most cases, male hypogonadism is diagnosed through detailed history, physical examination and a few basic hormonal evaluations.[ncbi.nlm.nih.gov] The scrotum was thin, and two small, soft testicles (testicular volume, 1 to 2 ml) were palpated.[nejm.org] There are many pitfalls in making the diagnosis of male hypogonadism.[ncbi.nlm.nih.gov]

    Missing: Dysmorphic Face

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